Sonographic Differential Diagnosis

of Fetal Cardiac Abnormalities
Sharon R. Weil and James C. Huhta
Ultrasonographic evaluation of the fetal heart for structural and functional abnormalities is vital for prenatal
diagnosis and perinatal management. Even more important than up-to-date diagnostic equipment is keen
observation and an understanding of fetal cardiac abnormalities. One diagnostic approach begins with the
four-chamber view with particular attention to the normal symmetric sizes of all four cardiac chambers. Ventricular
disproportion, inequality in ventricular size, is often an easily detectable sign of a cardiovascular abnormality.
Segmental diagnosis of cardiac and visceral situs, ventricular outflow tracts for conotruncal abnormalities and the
aortic and ductal arches is also vital for diagnosing affected fetuses.
Copyright 9 1993 by W.B. Saunders Company

LTRASOUND EXAMINATION of the

U human fetus is playing an ever increasing
role in obstetrical diagnosis and management.
Two-dimensional (2-D) imaging, M-mode, and
Doppler ultrasound methods have been improved markedly by technological advances in
ultrasound equipment. Both the screening ultrasound examination and the in-depth fetal echocardiogram play important roles in caring for
the fetus at risk for cardiovascular disease
(Table 1). 1-8 The normal fetal echocardiographic examination is discussed elsewhere in
this issue. It is presumed that an in-depth fetal
echocardiogram will incorporate the routine
views adapted from postnatal echocardiography.9 These include the following: (1) the abdominal transverse and sagittal views, which
establish abdominal and atrial situs; (2) the
transverse thoracic views, which assess cardiac
position, apex location, and the cardiothoracic
size ratios; (3) the four-chamber view which is
used to identify the atrial and ventricular locations, relationships, and relative sizes and also
to assess the atrial and ventricular septa and
atrioventricular valves; (4) the long- and shortaxis views of the right and left ventricular
outflow tracts; and (5) views of the aortic and
ductal arches. This article reviews important
abnormal findings that lead to more specific
diagnoses and suggests directed examinations
for special clinical situations.

From The Pennsylvania Hospital, Philadelphia, PA.
Address reprint requests to Sharon R. Weil, MD, Perinatal
Cardiology, Pennsylvania Hospital, 800 Spruce St, Philadelphia, PA 19107.
Copyright 9 1993 by W.B. Saunders Company
0887-2171/93/1404-000655. 00/0
298

DIFFERENTIAL DIAGNOSIS
OF ABNORMAL FINDINGS

Disproportion
Because of the normal right-to-left fetal shunts
through the foramen ovale and the ductus
arteriosus, the fetal ventricles work in parallel,
rather than in series. Thus, inability of one side
of the heart to handle normal blood flow (eg,
because of obstruction or abnormal chamber
filling) leads to redistribution of blood flow
through the contralateral chambers, resulting in
preserved "combined ventricular output." This
redistribution can be partially inferred from the
presence of chamber and vessel disproportion.~0,11

Ventricular disproportion: right greater than left.
Ventricular disproportion may be demonstrated best on a four-chamber view. A shortaxis view through the ventricles may support
this impression, and M-mode measurements
plotted on gestational age nomograms may
establish the abnormal dimensions. Some authors 12 propose using a ventricular dimension
ratio to identify patients with significant disproportion suggestive of structural heart disease.
Differentiating a large right ventricle with a
normal left ventricle from a right ventricle
enlarged to compensate for a small left ventricle
may be difficult.
A large right and a normal left ventricle may
result from dysrhythmias, pulmonary valve abnormalities, constriction or occlusion of the
ductus arteriosus, ventricular dysfunction, tricuspid regurgitation, or intrauterine growth retardation.
Fetal supraventricular tachydysrhythmias(eg,
supraventricular tachycardia or atrial flutter)
may result in disproportion or even enlarge-

Seminars in Ultrasound, CT, andMRI, Vo114, No 4 (August), 1993: pp 298-317

299

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS
Table 1. Pregnancies at Increased Risk of Structural or
Functional Fetal Heart Disease

1. Maternal diabetes mellitus present in the first trimester
(risk of CHD)
2. Maternal gestational diabetes (risk of hypertrophy, but
routine surveillance is questionable)
3. Maternal systemic lupus erythematosis (risk of CHD or
heart block)
4. Teratogen exposure in the first trimester (risk of CHD)
5. Family history of congenital heart disease, particularly
in first-degree relatives (risk of CHD)
6. Suspicious heart appearance on obstetrical ultrasound,
which ideally includes four chamber and outflow-tract
views (often the group with the highest yield of CHD)
7. Dysrhythmia: slow, fast, irregular (risk of hydrops secondary to the rhythm as well as of CHD)
8. Prolonged or high dose maternal exposure to nonsteroidal anti-inflammatory drugs, such as aspirin, ibuprofen, indomethacin (risk of ductal constriction in the
third trimester)
9. Monochorionic twins discordant in weight or Doppler
(risk of twin-twin transfusion syndrome with hypertrophy, hypertension, and hydrops)
10. Nonimmune hydrops (risk of CHD or primary cardiac
dysfunction)
11. Extracardiac fetal anomalies (risk of CHD)
12. Chromosomal abnormality (risk of CHD)
13. Certain cases of polyhydramnios or oligohydramnios
of undetermined etiology (risk of CHD or functional abnormality)
14. Familial syndromes which are associated with congenital heart disease (Ivemark, Noonan, and Marfan's syndromes, for example)
15. Fetal infection (risk of myocarditis)
CHD, Congenital Heart Disease.

ment of all four cardiac chambers. Disproportion with right heart enlargement may also be
observed with frequent atrial ectopy in the
absence of observed tachycardia (Well SR,
personal observations, 1992).
Severe or critical pulmonic stenosis or pulmonary atresia with an intact septum can occur
either with right ventricular dilatation or with
right ventricular hypoplasia. Less severe pulmonic stenosis also may be associated with a
disproportionately large right ventricle. This
lesion otherwise may be quite subtle in utero
because of unreliability of valvular gradient
measurements and compensatory redistribution
of blood flow. Lesions associated with significant pulmonary regurgitation, such as the absent pulmonary valve syndrome, also can be
associated with right ventricular dilatation. (Fig
1).13.14
Constriction or occlusion of the ductus arte-

riosus may lead to dilatation of the right ventricle, right atrium, and systemic veins. Diminished right ventricular shortening and/or
significant tricuspid regurgitation also are associated with ductal obstruction, and are due to
increased right ventricular afterload (Fig 2). 15
Right ventricular systolic dysfunction may lead
to right heart dilatation. Such dysfunction may
be caused by a variety of factors and may be
associated with an overall increased heart size.
Diastolic dysfunction may cause right ventricular dilatation and/or hypertrophy, which are
caused by increased filling pressures.
The volume overload associated with tricuspid regurgitation produces dilatation of the right
atrium and ventricle. If the filling pressures
become significantly elevated, the systemic veins
also may dilate. Causes of tricuspid regurgitation include right ventricular dysfunction, valve
dysplasia or Ebstein's anomaly, and the twintwin transfusion syndrome (Figs 3B, C, and 4).
A disproportionately large right ventricle may
also be seen in growth-retarded fetuses. Presumably, this disproportion is caused by cephalization or by redistribution of fetal blood flow to
the head, rather than to the body. The increased
venous return from the head passes through the
right heart, while left heart flow is diminished
because of the usual direction of fetal blood
flOW. 10

A large right ventricle with a small left ventricle should suggest left-sided obstructive lesions;
this condition also is seen in malaligned atrioventricular septal defects and in some cases of
double outlet right ventricle. Two potential
developmental explanations have been offered
to explain left ventricular hypoplasia. First, it is
suggested that inflow or outflow obstruction
shunts blood flow away from the left ventricle,
resulting in a diminished stimulus for growth.
Second, it is argued that the left ventricle is
small because of primary abnormalities in growth
potential or myocardial function. 16,17It is likely
that a variety of causes are responsible.
Left-sided obstructive lesions include mitral
stenosis, aortic stenosis, and aortic coarctation,
which may occur as isolated lesions or in combination with one another (Fig 5). The hypoplastic left heart syndrome is a severe combination
of left-sided obstructive abnormalities. The hypoplastic left heart syndrome involves mitral

the degree of left-sided obstruction is difficult to predict in utero. Until postnatal hemodynamics can be as- . PI.300 WElL AND HUHTA Fig 1. A more anterior view better shows the overriding aorta as well as the dilated pulmonary artery. It is helpful. 3. The most commonly associated abnormality is a bicuspid aortic valve with or without aortic stenosis. When the left ventricle is small. and subaortic stenosis.2 meters/second away from the transducer. head and neck vessels. the narrow annulus. (C) A 30-week fetus w h o presented with an echolucent mass that was shown to be dilated main and branch pulmonary arteries. and the ventricle septal defect (arrowhead) is seen under the aortic valve. is Coarctation is often associated with other left-sided lesions. This deformity usually is associated with some degree of mitral stenosis. The pulmonic stenosis peak velocity. for purposes of counseling and perinatal management. because the coarctation itself is difficult to image. Vascular chest mass in tetralogy of Fallot with absent pulmonary valve syndrome. Note the plate-like pulmonary valve. nonetheless. a parachute mitral valve is likely. The dilemma of "how small is too small" regarding the left heart structures is even more difficult in utero than postnatally. and aortic stenosis or atresia and aortic arch hypoplasia with coarctation. pulmonary insufficiency. to try to predict the degree of obstruction and postnatal ductal dependence. and coronary arteries are supplied retrograde from the ductus arteriosus. (A) Note the nearly normal four-chamber view. pulmonic stenosis. careful evaluation is warranted to rule out isolated or associated mitral stenosis with or without a parachute mitral valve. and multiple levels of obstruction further complicate the diagnosis. In this case. (B) Same fetus as in 5A. PS. and the dilated pulmonary artery compressing the left atrium. The degree of obstruction to forward flow is so severe that the aortic arch. suggests a gradient of 41 torr. the right ventricle is only mildly dilated relative to the left. If the papillary muscles are fused or closer together than normal. Comparison of the mitral and tricuspid annulus size as well as subjective quantification of inflow by color Doppler are helpful. (D) Continuous wave Doppler shows the typical to-fro pattern across the pulmonary valve. In most cases. Pulmonary insufficiency is shown as flow above the baseline throughout diastole. Ventricular and great vessel disproportion often is the most apparent finding in aortic coarctation.

9 to 3. The peak velocity is normal for age. (B} Ductal constriction is shown by continuous wave Doppler waveform of the ductus arteriosus in a 29week fetus whose mother was treated with indomethacin for preterm labor. and the pulsatility index is within the normal range of 1. (C) Color Doppler shows tricuspid regurgitation (arrowhead) secondary to ductal constriction in the same fetus.95. the diastolic velocity is low. (A) Normal ductus arteriosus waveform. and the diastolic and mean velocities are elevated as well. 301 .0. Constriction of the ductus arteriosus. resulting in a low pulsatility index (maximum=minimum/ mean velocity) of 0.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS Fig 2. The ductus peak velocity is quite elevated to 2.88 meters/second.

Other anomalies in which the left ventricle may commonly be small include some forms of double outlet right ventricle and a malaligned or unbalanced atrioventricular septal defect (AV canal). (A) Fetus at 25. in which greater inflow is directed to the right ventricle. Inadequate upper and/or lower body blood flow caused by a left-sided obstruction may be apparent before or after the ductus constricts. sessed. complete atrioventricular septal defect (atrioventricular canal) and dextrocardia (with the cardiac apex to the right. the direction of ductal blood flow should normally be left to right. descending aorta. Pulmonary atresia was also present. spine. Left-sided obstructive lesions in a female fetus should prompt evaluation for Turner's (XO) syndrome. DAo. A normal right ventricle with a dilated left . right. with the potential for postnatal two ventricle repair. left ventricle. left. Ventricular disproportion: left greater than right. asplenia). but many cases are not so clear cut. CAVO. LV. Once the pulmonary vascular resistance decreases and pulmonary blood flow increases postnatally. it may be impossible to differentiate multilevel left-sided obstruction.3 weeks" gestation with heterotaxy (in this case. S.302 WElL AND HUHTA Fig 3. from the true hypoplastic left heart syndrome. R. right ventricle. L. although the descending aorta is to the left of the spine). and there is biventricular hypertrophy of unclear etiology. common atrioventricular valve orifice. a9 A slitlike left ventricle and/or prenatal retrograde flow in the aortic arch strongly suggest hypoplastic left heart syndrome. Atrioventricular valve abnormalities. RV. The ventricles are inverted with the left ventricle to the right of the right ventricle. There is a typical.

left atrium. although this condition might more commonly be associated with some ventricular disproportion as well. Tetralogy of Fallot with absent pulmonary valve syndrome is associated primarily with main and branch pulmonary artery dilatation but also can result in right ventricular dilatation. suggesting it is severe. right atrium. Using the modified Bernoulli equation. while regurgitation is below the baseline (away from the transducer). in a case of tetralogy of Fallot. and holosystolic. a small aortic valve annulus and/or a dilated ascending aorta may signal aortic stenosis. aorta. and double inlet left ventricle. or the dilated form of critical aortic stenosis). A small right ventricle with compensatory enlargement of the left ventricle may be seen in tricuspid atresia (Fig 6). primary endocardial fibroelastosis.94 meter/second predicts a right ventricular pressure of 4(3. Ao. an enlarged aorta might be the only diagnostic clue. (B) Fetus with a dysplastic tricuspid valve and tricuspid regurgitation. left ventricular dysfunction often is accompanied by redistribution to--and compensatory enlargement of---the right ventricle. the hypertrophic form of pulmonary atresia with an intact ventricular septum. which shows tricuspid regurgitation in the same fetus as in Fig 3B. may or may not be associated with congenital heart anomalies. ventricle may be seen occasionally with isolated left-sided myocardial dysfunction (such as with myocarditis. 13 In Ebstein's anomaly of the tricuspid valve.94) z or 62 torr greater than the right atrial pressure. Pulmonic stenosis may be associated with a small pulmonary valve annulus relative to the aortic valve annulus. RA. Color Doppler shows two jets of regurgitation (open arrows). the functional. if the ventricular septal defect were undetected. Likewise. z~ Isolated great vessel disproportion. (C) Color Doppler is used to guide continuous wave Doppler. the velocity of 3. Note the nondisplaced insertion of the septal leaflet of the tricuspid valve (arrowhead). LA. gradient = 4 (peak velocity) 2. although the right ventricle may still be smaller than the abnormal left ventricle. muscular right ventricle may be small. However. although the atrialized portion of the right ventricle may be quite dilated. Isolated great vessel disproportion therefore merits cautious serial examination and neonatal reevaluation if there are clinical signs or symptoms of cardiovascular disease such as a murmur. Tricuspid inflow is above the baseline. For example. Isolated great vessel disproportion. most commonly present- .SONOGRAPHIC DIFFERENTIAL DIAGNOSIS 303 Fig 3 (cont'd). This lesion. with normal ventric- ular proportion. ruling out Ebstein's anomaly. malaligned atrioventricular septal defect (AV canal) with greater inflow to the left ventricle. and/or a dilated main pulmonary artery caused by poststenotic dilatation.

myocardial hypertrophy. comparing the thoracic circumference to gestational norms is helpful in making this distinction. (A) Normal triphasic inferior vena caval Doppler pattern. the smaller forward E wave and the tiny A wave of atrial reversal. Cardiac enlargement caused by chamber dilatation may result from a variety of causes. Additionally. is discussed below. (C) Abnormal biphasic Doppler pattern in the inferior vena cava in the larger of the 29-week discordant twins. The pattern is triphasic. ing in the fetus as a vascular chest mass. Potential causes include atrioventricular septal defect (canal). mitral valve prolapse . Two-dimensional imaging and Doppler in hemodynamic assessment of the compromised fetus. ventricular outflow obstruction. and comparing these measurements with gestational norms. Note the lack of visible "e'" wave and the large "'a'" wave. The Enlarged Heart and Cardiovascular Chest Masses Few structural heart lesions are associated with overall cardiac enlargement prenatally.5 and the normal cardiac/thoracic area ratio is roughly 0.33. or a combination of these factors.304 WElL AND HUHTA Fig 4. Elevated ratios may result from either an enlarged heart or a small chest or both. ventricular systolic dysfunction. pericardial effusion. The heart size may be determined by measuring chamber dimensions by 2-D or. The normal CC/TC ratio is roughly 0.21 Dilatation. the "'a" wave is accentuated. generating cardiac circumference/thoracic circumference (CC/TC) and cardiac/thoracic area ratios (Fig 4F). Atrioventricular valve regurgitation may result in dilatation of the ipsilateral atrium and ventricle. semilunar valve regurgitation. including atrioventricular valve regurgitation. Differential diagnosis begins with determining whether the large heart is caused by chamber or vessel dilatation. with a high velocity and large area relative to the E wave. with well-defined "v" and "e'" waves. One must be careful to differentiate an enlarged heart from a normal-sized heart that appears large relative to a small chest. more accurately. Dilatation of the ventricle and associated valve annulus leads to further valve regurgitation. Note the large forward V wave. (B) Inferior vena caval Doppler pattern in a 26-week fetus with oligohydramnios and reversal of diastolic f l o w in the umbilical artery. the heart and chest circumferences may be traced and compared. which is normal. However. or dysrhythmias. anemia. by M-mode imaging.

This condition is visualized optimally in a view perpendicular to the septa.33. and is commonly considered part of the constellation of cardiovascular abnormalities in the heterotaxy syndromes (polysplenia/asplenia). The high peak velocity of 4.39 meters per second suggests a right ventricular pressure of 77 torr greater than right atrial pressure. (D) Same fetus as in 7C.34. this also suggests a systemic systolic blood pressure of at least 77 torr. (E) Biventricular hypertrophy in this fetus who was the larger of discordant twins with the twin-twin transfusion syndrome. which is hypertensive at this gestational age. In the absence of pulmonic stenosis or ductal constriction. The cardiac area/thoracic area ratio (928/2766) is 0. (F) Same fetus as in 7B. The deficiency of septal tissue is represented sonographically as a defect in the lower portion of the atrial septum that extends through the inlet portion of the ventricular septum. 22 Any associated ventricular size discordance caused . which eliminates artifactual attenuation ("drop out") of the septa. and Ebstein's anomaly or dysplasia of the tricuspid valve.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS 305 Fig 4 (cont'd).8| is 0. An atrioventricular septal defect (also called an atrioventricular canal defect) may occur independently of genetic abnormalities. Short-axis views from the apex to the base show the septal defects as well as the common valve orifice.50. or papillary muscle dysfunction. which may or may not have attachments to the septum. suggesting it is severe. The cardiac circumference/thoracic circumference ratio (108. The heart appears large relative to the thorax. which is well above the normal value of 0. Often. which is just above the normal value of 0.58. Muscular hypertrophe could be most accurately quantified using M-mode measurements of wall thicknesses plotted for gestational age. however.8/187. Four-chamber views obtained from posterior to anterior may show the posterior-inferior bridging valve leaflet and the anterior-superior bridging leaflet. Continuous wave Doppler across the tricuspid valve shows a tricuspid regurgitation jet that is holosystolic. it is associated with Trisomy 21 and other trisomies.

prolapse associated with Marfan's syndrome) or function (eg. Tricuspid regurgitation and right heart dilata- tion may be caused either by a structural abnormality (eg. Ebstein's anomaly or dysplastic tricuspid valve) or a functional abnormality of the right ventricle or papillary muscles (Figs 3B and C. left ventricular or papillary muscle dysfunction) of the mitral valve may result in left heart enlargement. the dysplastic (thickened and redundant) valve is displaced toward the right ventricular apex with abnormal chordal insertion sites and is pressed against the right ventricular walls to varying degrees.306 WElL AND HUHTA Fig 5. The latter is proximal to the abnormal valve. Ebstein's anomaly results in tricuspid regurgitation and possible tricuspid and pulmonic stenosis. but significant regurgitation can lead to hydrops and may contribute to early fetal loss. with consequent massive enlargement of the right atrium and the atrialized portion of the right ventricle. The true right ventricular . The lower frame (obtained from the newborn) shows elongation of the aortic arch between the left carotid and left subclavian arteries. An atrioventricular septal defect often is well tolerated in utero. by unbalanced inflow also can be seen in this view. often leading to the diagnosis of a dilated heart on screening ultrasound examinations. The defect may result in significant right and/or left atrioventricular valve regurgitation. In this abnormality. Ventricular disproportion. losing the capacity to contribute to right ventricular systolic function. Note the slightly larger right ventricle relative to the left. which may accompany structural heart disease in some patients with the heterotaxy syndrome (Fig 3A). right ventricle. which dilates and thins. The newborn had coarctation of the aorta. The newborn was asymptomatic but had a bicuspid aortic valve without aortic stenosis. Mitral regurgitation caused by abnormal structure (eg. right larger than left. and 4D). Cardiac dilatation may be compounded by heart block and/or bradycardia. measured on 2-D imaging. Ebstein's anomaly is a relatively common structural cause of atrioventricular valve regurgitation. as well as left ventricular to right atrial shunting. RV. (A) A four-chamber view in a fetus w i t h a 2-vessel cord referred to rule out associated anomalies. Spectral Doppler interrogation parallel to inflow may show regurgitation. but the origin(s) and direction(s) of the jet(s) may be seen best by color Doppler. LV. (B) A short-axis view of the ventricles shows a relatively large right ventricle. left ventricle.

Continuous wave Doppler can be used to measure the peak velocity of the regurgitation to esti- .0 mm. AoV. the anatomy of the tricuspid valve and. cavity is the portion distal to the valve. LA. particularly by four-chamber and short axis views. in a short-axis view. D. The right ventricular outflow tract and pulmonary artery also must be evaluated by 2-D imaging. occasionally. There was severe great vessel disproportion as well. RCA. overt hydrops. (C) Same patient as in 5A. S. vascular chest mass. right coronary artery.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS 307 Fig 5 (cont'd). Color Doppler can show the breadth and direction of the inflow jet as well as regurgitation and the pattern of right ventricular outflow. M-mode allows for more accurate chamber measurement because of its increased frame rate and differentiation of the phases of the cardiac cycle. giving the appearance of a two-chambered heart. In this 19-week fetus with hypoplastic left heart syndrome. Note the tiny aortic valve. (E) Same patient as in D. the septal leaflet attachments must be evaluated. right atrium. RA. aortic valve. (D) The most severe form of ventricular disproportion with a large right ventricle. or. not much laTger than the normal right coronary artery. left atrium. the small left atrium and slit-like left ventricular cavity are not seen well. Doppler is useful in evaluating tricuspid inflow and regurgitation. in particular. end systole. which may be mildly or severely decreased in size. Note the left ventricular end-diastolic dimension of 11. The presenting screening diagnosis often is an enlarged heart.7 mm compared with the right ventricular end-diastolic dimension of 18. enlarged right atrium. end diastole. Once sonography identifies gross right atrial enlargement.

true right ventricular cavity. This tissue neither opens nor coapts and is perforated only by a small orifice. PA. left atrium. or direct obstruction to outflow by tricuspid valve tissue. there is a malaligned ventricular septal defect with an overriding aorta. the peak velocity of this jet reflects the pressure difference between the right ventricle and the right atrium during systole. (B) Another fetus with tricuspid atresia. and pulmonary valve. right atrium. The ventricular septal defect is restrictive. left larger than right. which extends into the left ventricular outflow tract. left ventricle. Note the echogenic right atrioventricular groove (arrowhead) and the lack of connection between the right atrium and hypoplastic right ventricle. If the right ventricular pressure can be estimated using the tricuspid regurgita- tion jet. The modified Bernoulli equation: Pressure Gradient = 4 (velocity)2 is used to predict a pressure gradient from the peak velocity across a valve or focal stenotic orifice. More commonly. can lead to prenatal or postnatal left ventricular obstruction. in utero ductal shunting is from the pulmonary artery to the aorta. based on the assumption that the severity of the disease made it more obvious on a screening ultrasound. because they are all equal if the ductus is widely patent and there is no semilunar valve stenosis (Figs 3C and 4D) Several important features aid in predicting the prognosis of Ebstein's anomaly. Some investigators2~suggest that in utero diagnosis itself portends a poor prognosis.308 WElL AND HUHTA Fig 6. presumably because of inflow limited by tricuspid stenosis. forward flow diminished by massive tricuspid regurgitation. The regurgitation produces a tremendous volume load on the right ventricle and pulmonary after- . right. The result is severe pulmonic stenosis and free pulmonary insufficiency. (A) Fetus with tricuspid atresia. Generally in tetralogy of Fallot. RV. and sometimes the left pulmonary arteries. LA. aorta. Semilunar valve regurgitation is associated with right heart enlargement in tetralogy of Fallot with absent pulmonary valve syndrome. Severe right ventricular outflow obstruction may develop. right ventricle. Note the pulmonary artery arises from the large left ventricle and the aorta arises from the hypoplastic right ventricle. LV. pulmonary artery. then the left ventricular and systemic systolic blood pressures are also known. Dilatation of the atrialized portion of the right ventricle. This obstruction is accompanied by right-to-left atrial shunting of desaturated blood and may result in postnatal ductal dependence for adequate pulmonary blood flow. High velocity prograde flow (or "jet") leads to dilatation of the main. Ventricular disproportion. which may also present as a cystic or vascular chest mass (Fig 1). Ao. with transposition of the great arteries as well. RA. mate right ventricular pressure. This assumption may not be correct in the face of more widespread and careful fetal cardiac screening. In tricuspid regurgitation. and adequacy of the right heart to carry the increased postnatal pulmonary blood flow must be inferred by the sizes of and flows through the tricuspid orifice. The most salient feature is a plate-like fibrous tissue structure occupying the pulmonary annulus in place of the pulmonary valve. producing subaortic stenosis {arrow). Ductal dependence can be predicted in utero if ductal shunting is from the aorta to the pulmonary artery.

it is useful to evaluate the severity of pulmonic stenosis and insufficiency and to measure chamber and branch pulmonary artery sizes. or labile ventricular dysfunction. systemic veins) associated with diminished right ventricular shortening and/or tricuspid regurgitation. severe pulmonic or aortic stenosis or atresia may be associated with a dilated and poorly contractile right or left ventricle.23 If chronic and persisting near delivery. thus compromising coronary diastolic blood flow to the endocardium. 14 Often more clinically significant than the cyanosis is the mass effect of the dilated vascular structures. Constriction or occlusion of the ductus arteriosus may result in dilatation of the right heart (ventricle. the main and right pulmonary arteries. either temporarily and responsive to oxygen administration (to lower the pulmonary vascular resistance) or persistently (caused by severe stenosis). Significant outflow obstruction may occur at the outflow tract or ductus arteriosus. an indicator of systolic function. these findings may be relatively insensitive and nonspecific for diagnosing fetal anemia. or severe outflow obstruction (such as critical pulmonic or aortic stenosis or severe ductal constriction). respectively. Anemia can produce a high output state--evidenced by chamber enlargement and increased velocities throughout the heart--compared with gestational age norms and may progress to hydrops. Endocardial fibroelastosis (EFE) appears as increased echogenicity of the endocardium and papillary muscles. These arteries often produce pulsatile compression on the airways causing obstructive lung disease that may lead to pulmonary hypoplasia. Endocardial fibroelastosis may be associated with both systolic and diastolic dysfunction. commonly is related to maternal indomethacin administration (Fig 2). Diminished ventricular shortening may be caused by infectious myocarditis. Dimensions may be plotted by gestational age on nomograms and the shortening fraction may be calculated using the formula: SF- EDD . When stenosis and insufficiency are severe and compounded by the normally high neonatal pulmonary vascular resistance. Confirmatory cultures or serology.30 for the left ventricle. The ductus generally is absent (a theoretical cause of the anomaly) and is an unreliable source of pulmonary blood flow. abnormal blood gases obtained by percutaneous umbilical blood sampling (PUBS). which may occur acutely or chronically. ie. dilated cardiomyopathy of unknown etiology. either in long.25 for the right ventricle and 0. the newborn may be severely cyanotic. Doppler interrogation across the pulmonary "valve" shows the classic high velocity to-and-fro pattern of pulmonic stenosis and insufficiency. To anticipate the newborn's hemodynamic condition. This lesion may either be primary or may result from any abnormality that causes dilatation and increased ventricular filling pressures. Dysrhythmias that may lead to ventricular dilatation include both bradydysrhythmias (as in sinus node dysfunction or heart block associated with structural disease. ductal constriction may lead to persistent pulmonary hypertension in the newborn. This problem. Outflow tract obstruction may be predicted by severely diminished size using 2-D imaging and/or increased velocity or spectral dispersion ("turbulence") by Doppler.or short-axis views. Although sometimes seen with ventricular hypoplasia. atrium. Infectious myocarditis is typically viral. Doppler identifies this echolucency as a vascular structure. Fetal anemia may result from hemolytic or infectious disease. endocardial fibroelastosis. associated anemia.ESD EDD where E D D is end-diastolic dimension and E S D is end-systolic dimension. can be assessed on 2-D imaging but is best confirmed by M-mode measurements of the ventricles in systole and diastole. or other sonographic findings such as echogenic bowel or intracranial calcifications may support a viral etiology. al- 309 though viral identification is often elusive. abnormal umbilical cord Doppler. or heart block secondary to maternal systemic lupus erythemato- . Fetal hypoxia may be inferred from clinical observation. Unfortunately. 14.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS ies. Approximate normal minimum values for the shortening fraction are 0. Impaired ventricular systolic function may lead to progressive dilatation of either ventricle. fetal hypoxia. Therefore. Ventricular shortening. a screening ultrasound often shows either a large right ventricle or a huge echolucent area behind (and sometimes impinging on) the left atrium.

particularly of the ventricles (Fig 4E). and is usually asymptomatic in the fetus and newborn. The third is a tiny flow reversal. 3~ Primary hypertrophic cardiomyopathy rarely presents in utero. The first is a large forward "v" wave that is associated with ventricular systole and movement of the tricuspid valve towards the apex. This results in a dominant "a" wave filling pattern that may be exaggerated or diminished in combination with diastolic dysfunction. with increased filling pressures. although it is sometimes seen in Noonan syndrome. or by systolic anterior motion (SAM) of the mitral valve on 2-D imaging or M-mode. with the first two waves being forward flow from the inferior vena cava toward the heart. and ectopy) and primary myocardial dysfunction may contribute to the dilatation seen in myocarditis. with assymetric septal hypertrophy (ASH) similar to idiopathic hypertrophic cardiomyopathy.310 sis) and tachydysrhythmias(such as supraventricular tachycardia or ventricular tachycardia). 29 An increase in fetal afterload caused by outflow obstruction or hypertension can induce hypertrophy in experimental models. This condition is generally progressive during gestation and. Accurate dimensions are measured at end-diastole using M-mode and are compared with gestational age norms. Hypertrophy. Conversely. Their cardiac hypertrophy may present as a hypertrophic cardiomyopathy. Hypertrophy may be primary or may occur in the presence of maternal diabetes or twin-twin transfusion syndrome. the mitral or tricuspid inflow patterns may demonstrate abnormalities in the passive filling ("e" wave) and atrial systole ("a" wave) morphologies. with an additional flow reversal interrupting the "v" or "e" wave. may not be recognized on second-trimester scans. hypertrophy may adversely affect diastolic function. It also may be associated with diastolic dysfunction. usually becoming of higher velocity with a larger area under its curve. It typically resolves spontaneously postnatally. 28Progression can be evaluated by serial measurements in certain clinical situations. It must be .33Metabolic or storage dis- WElL AND HUHTA eases very rarely present in this fashion during fetal life. subaortic obstruction can be estimated by subaortic fixed and dynamic narrowing. the "a" wave. leading to atrial filling. With impaired filling. related in part to coexisting hypertension (Figs 4D and E). caused by atrial systole that actively forces blood into the ventricle but also generates a small wave backwards into the inferior vena cava. It probably is the transmission of these waves to the umbilical vein as the disease process progresses that leads to the observation of umbilical venous pulsations in the compromised fetus. In addition. Infants of diabetic mothers often have macrosomia and organomegaly. With diastolic dysfunction. probably does not correlate with the degree of maternal glucose control. the normal fetal inferior vena cava yields a triphasic pattern. 34 Diastolic dysfunction.35 Interrogation of other fetal vessels (such as the systemic veins) may yield further evidence of diastolic dysfunction. The hallmark of diastolic dysfunction is impaired relaxation and filling of the ventricles. the larger twin develops hypertrophy. 36-38 Pericardial effusion. Hypertrophy--increased muscle mass resulting from increased cell size--is another cause of an enlarged heart. or superimposed on. the "v" wave. turbulence or increased velocity with delayed upstroke across the left ventricular outflow tract. This venous Doppler change signals a prehydropic state. Severity can be estimated by wall thickness measurement. therefore. bradycardias. The atrial reversal becomes more accentuated. the inferior vena caval signal becomes quadriphasic. passive inflow into the right ventricle from the atrium. and is recognized by gross observation of thickened walls and septa. Diastolic dysfunction is difficult to confirm by echocardiography but may be inferred from abnormalities in atrioventricular valve and venous Doppler (Fig 4). as the "e" wave diminishes and becomes less well defined from. Pericardial effusion is fluid within the pericardial sac. The second is a smaller forward "e" wave produced by the early. Generally. One clinical situation is the so-called "twin-twin transfusion syndrome" in which monochorionic twins develop growth discordance and hemodynamic derangements because of the interconnection of their placental circulations. although some may cause hydrops. is associated with hypertrophy. For example. In some cases.24-27 Both dysrhythmias (tachycardias. The normal fetal ventricle fills differently from the adult ventricle. this pattern can gradually become biphasic.

These defects. Atrial septal defects can be obscured by the presence of the obligate right-to-left shunt across the foramen ovale. are designated perimembranous ventricular septal defects. may be more easily seen. there may be evidence of valve regurgitation. which is best seen on four-chamber and short-axis views. These defects are best seen on the parasternal short axis view in which the aorta appears as a circle in the center of the heart. However. They may extend to the muscular or membranous septum. isolated septal defects do not lead to a large heart in utero. because elevated pulmonary vascular resistance prevents significant pulmonary overcirculation. When this mass is hypoechoic. = Although shunting typically is minimal. or outlet) and. accentuated by hypertrophy. with Doppler interrogation for evidence of valve regurgitation. or be part of a complete atrioventricular septal defect (AV canal). should be recognized. ventricular and great vessel disproportion. A large fluid collection may impair cardiac filling and lead to compression of the ventricles and atria with dilatation of systemic veins. as described above. Hydrops often is associated with hypoalbuminemia. defects in other portions of the septum. and those considered part of heterotaxy syndrome require careful evaluation for systemic and pulmonary venous abnormalities as well as outflow obstruction (Fig 3A). merit testing for genetic diagnosis. The membranous septum is seen below the tricuspid valve. They may extend to any of the other areas of the ventricular septum (inlet. such as a sinus venosus defect near the vena cavae. in particular. The referring indication for a fetal echocardiographic study is sometimes a chest mass. membranous. Atrioventricular septal defects (AV canal) may be recognized. Usually the fluid is echolucent but may appear shaggy or particulate. with the shunt from left ventricle to right ventricle in systole caused by asynchronous pressure changes during contraction and relaxation of the ventricles. muscular trabecular. by the deficiency in atrial and ventricular septa and the common atrioventricular valve. Imaging from multiple views and M-mode may be helpful in evaluating movement of the echolucent region with the cardiac cycle. muscular trabecular. Chest masses. Because the structure is somewhat helical~rather than flat. Although there is little net shunting across these defects in utero. such as profound or acute anemia or twin-twin transfusion syndrome. Inlet ventricular septal defects involve the posterior portion of the septum near the atrioventricular valves. Defects of the membranous septum are common. Short-axis views are helpful also. extensive deficiency of the atrial septurn. Other causes of pericardial effusion include hydrops fetalis from any number of etiologies. therefore. and pulmonary venous connection abnormalities.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS differentiated from the small amount of lubricating fluid normally present and from the artifactual echolucency of myocardium. These are best identified on the fourchamber view. Pericardial effusions may also be seen with or without pleural effusions. particularly with infectious pericarditis. The significance of a pericardial effusion may be diagnostic as well as hemodynamic. Doppler is useful in this situation. Small or large defects may involve the muscular trabecular septum. or gross hydrops in Turner syndrome or Noonan syndrome. and outlet. such as in common atrium. as is evaluation of the anatomic connection of the mass to the cardiovascular system. at approximately 11 o'clock if the right ventricular . evaluating it for defects requires systematic and thorough interrogation of all the parts of the septum: inlet. Septal Defects and Other Shunt Lesions In general. that is known as a "halo" effect. The large right atrium in Ebstein's anomaly and the large branch pulmonary arteries in absent pulmonary valve syndrome often present as vascular chest masses on screening ultrasonographic examination (Fig 1). In addition. the examiner must determine if the "mass" actually is a vascular structure. True deficiency of atrial septum in the area of the fossa ovalis (septum primum) may not be recognizable prenatally. Difficulty in diagnosis also is related to the equal ventricular pressures and normal fetal shunts within the normal fetal circulation. Ventricular septal defects may be present in any region of the ventricular septum. particularly with views perpendicular to the septum that decrease artifactual 311 attenuation. cystic hygromata. Color and pulsed wave Doppler may offer some help. there commonly is a small amount of bidirectional shunting with the cardiac cycle.

anterior. (A) A fetus with transposition of the great arteries. RV. This involves determination of abdominal and atrial situs and pulmo- Fig 7. aortic valve. AoV. pulmonary artery. which is seen to bifurcate. In these examples. posterior. RPA. R. and are discussed below in "Conotruncal Abnormalities" (Figs 7 and 1A and B). Discordant Connections The traditional cardiac evaluation for congenital heart disease involves segmental examination and description. (B) Another fetus with transposition of the great arteries. Asterisks. right. Conotruncal abnormalities. These lesions are best seen in out- WElL AND HUHTA flow tract views such the parasternal long. (C) The same fetus as in B. Defects in the outlet septum include the posterior malalignment defects associated with subaortic stenosis and aortic arch coarctation or interruption. left pulmonary artery.312 outflow tract and pulmonary valve are oriented anterior to and to the right of the aortic valve. LPA. A. Note the overriding aorta that arises from both ventricles over the ventricular septal defect (arrow). The aorta is anterior to the pulmonary artery. The perimembranous septum also may be seen when angling anteriorly from a four-chamber view and evaluating the right and left ventricular outflow tracts. left ventricle. . This approach requires assessment of the heart and great veins and arteries at multiple levels. LV. right pulmonary artery. or the absence of outlet septum in truncus arteriosus. the four-chamber view is normal and images of the outflow tracts are required to identify congenital heart disease. P. pulmonary valve. / . The anterior right ventricle gives rise to the aortic arch (arrowheads). the anterior malalignment associated with subpulmonic stenosis in tetralogy of Fallot. PA. as in most conotruncal lesions. left. (D) A fetus with tetralogy of Fallot.and short-axis views and a four-chamber view with anterior angulation towards the left and right outflow tracts. right ventricle. The left ventricle gives rise to the pulmonary artery.

it usually is a sign of D-transposition of the great arteries (Dextro. relative to the left ventricle. but leftward. complex congenital heart disease. either congenital or later in life. Because of the formation of the spiral septum and the normal rotation and leftward migration of the conus during embryologic development. or atresia of one of the atrioventricular valves with associated hypoplasia of the corresponding ven- 313 tricle. such as bilateral superior venae cavae. and that the left atrium is connected via a tricuspid valve to the right ventricle. In D-transposition of the great arteries. Turbulence. Knowledge of the presence or absence of obstruction may be useful in preparing for newborn management. In addition. they can be seen with color Doppler. The diagnosis requires the mental assembly of various echocardiographic views. shown by spectral dispersion on pulsed wave or color Doppler. There also may be outlet obstruction. is established by showing ventriculo-arterial discordance: The posterior left ventricle gives rise to the posterior great vessel. the anterior right ventricle gives rise to the aorta. In addition. The normal relationship of the great vessels involves the left ventricle giving rise to the aorta with fibrous continuity between the mitral and aortic valves. the aorta gives off the coronary arteries and the vessels of the head and neck. or interrupted inferior vena cava with azygous continuation to the superior vena cava. which results in the right ventricle lying anterior. The diagnosis. it is helpful to identify other defects such as a ventricular septal defect or pulmonic stenosis. may suggest pulmonary venous obstruction. 37 Atrioventricular discordance and univentricular atrioventricular connections. The true identity of each ventricle relies on recognition of the normal morphological features of the atrioventricular valves and the ventricles. and ventricle to artery relationships (ventriculoarterial concordance). which plays an important role when the heterotaxy syndromes are suspected. Likewise. atrioventricular discordance typically is associated with L-transposition of the great arteries. particularly in a parasternal long axis equivalent view. and heart rhythm (Fig 3A). atrial to ventricular relationships (atrioventricular concordance). and valve regurgitation often carries a poor prognosis. which bifurcates and is shown to be the pulmonary artery. D-Transposition. in which the aorta arises from the left-sided right ventricular conus as the anterior great vessel. valves. the great arteries ultimately lie evenly over the ventricles and spiral around each other. Abnormalities of systemic venous drainage. and their connections. or crisscross. Although the pulmonary veins are difficult to identify in utero. L-loop hearts often have more complex defects. When the great arteries arise in parallel fashion without spiraling around each other or criss-crossing.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS nary and systemic venous connections. The pulmonary artery is seen to bifurcate into the right and left branches and to give rise to the ductal arch. The pulmonary artery arises from the conus of the right ventricle. This abnormality arises from inappropriate L-looping with the atria in situs solitus. which also are identified by abnormalities of cardiac position. and vessels. with attention paid to morphological identification of individual chambers. Atrioventricular discordance implies that the right atrium is connected via a mitral valve to the left ventricle. Conotruncalabnormalities. D-transposition is suspected when these vessels are seen in the same plane. Likewise. . The presence of the abdominal aorta and the inferior vena cava on the same side of the spine is a hallmark of the heterotaxy syndromes. and C). left-sided inferior and/or superior venae cavae. sometimes with unbalanced connections of the atria to the ventricles. Visceral situs and pulmonary and systemic venous abnormalities. The combination of complete heart block. with the pulmonary valve lying anterior to and leftward of the aortic valve. a very restrictive foramen may put the newborn at risk for profound cyanosis and acidosis. B. with conus muscle separating the pulmonary from the tricuspid valve. The anatomy determines the postnatal hemodynamics and the prediction of cyanosis and/or obstruction is vital to newborn management. which require prompt invasive management by catheter or surgery. intracardiac structure. which may affect neonatal decision making. which may be aided by color Doppler. L-loop hearts also are prone to complete heart block. most commonly pulmonic stenosis.or complete transposition). which lies anterior (instead of posterior) to the pulmonary artery (Figs A. often are clues to the diagnosis of heterotaxy.

or D-transposition with subaortic and aortic arch obstruction (Taussig-Bing anomaly). supplemented by short-axis and anteriorly angulated four-chamber views. giving rise to the left brachiocephalic artery. Evaluation of the aortic arch should be performed to rule out an associated interruption. if the overriding great artery is the pulmonary artery. The normal arch ascends toward the right shoulder. as in hypoplastic left heart syndrome. by following the arch as it curves posteriorly to the right of the midline trachea and esophagus. and this vesseI gives rise to the aorta. which is associated with a ventricular septal defect caused by absence or malalignment of the outlet septum. either continuous at the pulmonary artery confluence or discontinuous and seen closer to the hila. it is not always possible to image its entire "candy cane" in a single image. the overriding vessel may be the aorta (as in tetralogy of Fallot). The right arch then descends from midline to the left of the spine. one vessel arises over the ventricular septal defect while the other arises from the right ventricle. the transverse arch (which gives rise to the head and neck vessels). Aortic Arch Abnormalities The aortic arch is composed of the ascending aorta (which should arise from the posterior left ventricle). The outflow tracts are best evaluated by long-axis views. In fact. Identification of the overriding vessel is crucial and involves imaging the great arteries beyond the ventricular outflow tracts to the pulmonary arteries or the aortic arch. the defect may be double outlet right ventricle (DORV). Dynamic scanning through all the segments allows for the mental reconstruction of the entire arch. which branches into the right subclavian and right carotid arteries. is a right aortic arch with mirror image branching (left brachiocephalic artery). and the descending aorta distal to the ductus. When only one great artery is seen to arise from the heart. its size is approximate to the total size of the coronary arteries. Because of the threedimensional structure of the aortic arch. The pulmonary arteries may WElL AND HUHTA also arise singly. location of the atretic aortic valve and the ascending aorta should be determined retrograde from the aortic arch. may or may not be recognized and measured with color Doppler. Full evaluation of truncus arteriosus is largely dependent on long. It has clinical significance preoperatively but may be difficult to diagnose in utero. Truncus arteriosus may be present if the great artery overrides a defect associated with an absent outlet septum. if the overriding vessel is more committed to the right ventricle as well. The ventricular septal defect is an anterior malalignment. However. as blood flows backwards to supply the coronary arteries. and the branch pulmonary arteries. some resembling tetralogy of Fallot with pulmonic stenosis. with the right pulmonary artery coursing in the usual fashion between the ascending and descending aorta. Generally. an overriding great artery that gives rise to the aortic arch may be tetralogy of Fallot with pulmonary atresia (pulmonary atresia with ventricular septal defect). The pulmonary arteries may arise from a common trunk on the left posterior surface of the truncus. or a persistent truncus with an absent outlet septum and a truncus arteriosus.and short-axis views of the outflow tracts and great vessels. One aortic arch anomaly. a right aortic arch can be suspected. it is necessary to identify that great artery and to search thoroughly for the other artery. Coarctation is a relatively common abnormality consisting of narrowing of the aorta. with careful orientation to the fetal chest position. The first vessel arising from a normal left arch is the right brachiocephalic artery. or if there is a bilateral conus with loss of the fibrous continuity of the mitral valve to either semilunar valve. the blind-ending right ventricular outflow tract may be seen. which greatly increases the risk of corrective surgery. D O R V comes in various forms. 3s Single ventriculo-arterial connection. often associated with tetralogy of Fallot. with one or the other possibly absent.314 Overriding great vessel and double outlet right ventricle. For example. Finally. the narrow isthmus between the left subclavian artery and the ductal insertion. or severe hypoplasia of the left ventricle. curves posteriorly to the left of the trachea. In this condition. one great vessel may be seen to override the lower portion of the septum (Fig 7D). in the same position as the left aortic arch. usually in the juxtaductal region near the insertion of . and descends angling from near midline to rest left of the spine in the abdomen. the pulmonary artery (as in Taussig-Bing anomaly). In fact.

These are a normal variant and probably are cysts of the chordae tendonae. It may be suspected in the presence of ventricular disproportion. Coarctation may accompany other left-sided lesions such as mitral stenosis. Postnatally. Intracardiac masses. This lesion often is associated with truncus arteriosus or posterior malaligned ventricular septal defect with subaortic stenosis. A more severe abnormality is interruption of the aortic arch. or valve leaflets. However. Sensitivity of the ductus to indomethacin appears to increase with gestational age. blood gases. or between the right brachiocephalic and left carotid (type C). which is affected by circulating prostaglandins. Cardiac tumors arise from the muscular walls of the atria or ventricles. which may result in obstruction. The sensitive ductus may constrict within hours of the first dose of indomethacin and it reverses once the indometh- . related to the chordae tendonae. and pH. is a prostaglandin inhibitor and can thus affect other prostaglandin dependent processes. The transverse arch may be hypoplastic or narrow. Intracardiac Masses and Echogenicities "Bright" cardiac masses are a common reason for referral. which may occur distal to the left subclavian (type A). there may be longer segment constriction as well as a component of constriction of additional ductuslike tissue postnatally. The typical coarctation is composed of a shelf of tissue on the posterior wall of the descending aorta just distal to the left subclavian and opposite the ductus. The coarctation itself is very difficult to visualize in utero. with the left ventricle smaller than the right. One such process is maintaining patency of the ductus arteriosus. DIRECTED STUDIES IN SPECIAL CLINICAL SITUATIONS Maternal Indomethacin Therapy Indomethacin. The vessels distal to the interruption are dependent on retrograde filling by right-to-left ductal shunting. Their cardiovascular significance results from their size and location. Rhabdomyomas. and its diagnosis should be sought with these abnormalities. between the left carotid and left subclavian (type B. They arise from the muscular walls and may result in a "shaggy" appearance of the normally smooth left ventricular septal surface. The presence of coarctation increases the likelihood of Turner syndrome.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS the ductus. and unrelated to the myocardium. Dynamic scans in this plane and in the short axis showed these to be mobile. and there tends to be elongation of the segment between the left carotid and left subclavian arteries (Fig 5). interrupted aortic arch has been associated with DiGeorge syndrome (parathyroid and thymic deficiency). particularly in fetuses near 32 to 34 weeks' gestation. the most common). It is important to differentiate the benign majority from the few that portend serious disease. 315 Fig 8. frequently used to treat preterm labor and/or polyhydramnios. aortic stenosis. subaortic stenosis. papillary muscles. which suggests endocardial fibroelastosis (Fig 8). Diagnosis is made by establishing lack of continuity between segments of the aortic arch and by showing retrograde flow toward the interruption on Doppler. associated with tuberous sclerosis. posterior malaligned ventricular septal defect. and from their potential for triggering dysrhythmias. so other sonographic signs and genetic diagnosis should be sought. and also has been effective in constricting or occluding the fetal ductus if administered to the mother during the third trimester. Indomethacin is very effective in closing the postnatal patent ductus arteriosus in the preterm neonate. Several small echogenicities are seen in the left ventricle. Echogenicities of the chordae tendonae are generally benign but must be differentiated from dysplasia of the valve itself and from echogenicity of the papillary muscles and endocardium. may be singular or multiple. and hypoplastic left heart syndrome with aortic atresia.

Cardiol Clin 7(2):239253. Complete atrioventricular block should prompt maternal evaluation for systemic lupus erythematosis. 14'23 Dysrhythmias Abnormal heart rhythm is often the reason for referral in patients presenting for fetal heart study.0 may suggest a high output state such as sympathomimetic therapy (Fig 8). Fetal dysrhythmias increase the likelihood of structural heart disease. continuous wave. and a value of less than 1. Identification of the progression of findings before hydops may aid in optimizing the timing of delivery because the prognosis is poor once hydrops develops (Fig 4).316 WElL AND HUHTA acin is discontinued. Pulsatility may be measured objectively by the pulsatility index. and ventricular shortening. LudomirskyA (eds): Color Doppler of Congenital Heart Disease in . 1989 2. but its peak velocity may be further increased by activity and sympathomimetic tocolytic drugs. The ductus arteriosus normally has the highest blood velocity in the fetus. and abnormal filling patterns by systemic venous Doppler. hypertension (as predicted by the modified Bernoulli equation and the tricuspid regurgitation jet). Ductal constriction is associated with elevation of both peak and diastolic velocities. Fetal dysrhythmia assessment is made by mechanical rather than electrical diagnosis. which is computer generated by some vascular software packages. Functional heart disease such as myocarditis may also be a causative factor. fetal distress. Therefore. a value greater than 3.33 REFERENCES 1. Salient echocardiographic features are discussed above. long-term use of indomethacin may lead to chronic ductal con: striction. valve regurgitation. wall thicknesses. with a relatively greater increase in the diastolic velocity and thus a decrease in pulsatility. personal observations. and [3-mimetic therapy. trace the entire waveform to generate a mean velocity. tricuspid regurgitation. in Huhta JC. Twin-Twin Transfusion Syndrome Echocardiographic assessment includes Mmode determination of chamber sizes. infection. atrioventricular block. Slow rhythms that may result in cardiac enlargement include atrial bradycardia. However. and color Doppler for tricuspid valve regurgitation and abnormal patterns in the inferior vena cava and umbilical vein. Hydrops may ensue in the larger twin but also has been described in the smaller twin in whom the shift of blood flow to the brain is a compensatory mechanism. and even hydrops. careful interrogation by pulsed. and this challenging process is more thoroughly discussed elsewhere in this publication. Severe hypertrophy may virtually obscure the ventricular cavity and severely compromise filling. and atrial bigeminy with block of premature beats. Evidence of ductal constriction is obtained by Doppler interrogation across the ductus. measure maximum and minimum velocities. These programs obtain ductal waveform. Huhta JC: Future directions in noninvasive Doppler evaluation of the fetal circulation. but continuous wave Doppler increases the sensitivity for identifying the highest velocity and for accurately measuring elevated velocities. Other irregular rhythms include second degree heart block and atrial fibrillation with high degree block. Pulsed wave Doppler can be used. and perinatal assessment of fetal well-being by growth measurements and Doppler of the umbilical artery and small vessels such as the middle cerebral and renal arteries. The classic findings are umbilical arterial and growth discordance between the twins accompanied by a prehydropic state in the larger twin (involving hypertrophy). 32. Irregular rhythms such as frequent atrial ectopy without sustained tachycardia may occasionally be associated with an enlarged heart (Weil S R . 1992) and carry increased risk of persistent tachycardia. Huhta JC: Fetal examination. which poses a theoretical risk of postnatal persistent pulmonary hypertension (persistent fetal circulation). Sinus tachycardia may result from anemia.0 indicating severe constriction).9 indicates constriction (with a value of less than 1. 24-27 Persistent fast heart rhythms such as atrial tachycardia and flutter and ventricular tachycardia may result in a large heart. and calculate the pulsatility index as follows Pulsatility Index Maximum Velocity--Minimum Velocity Mean Velocity The normal values do not change with gestational age. the third-trimester fetus exposed chronically to indomethacin may merit serial examination for ductal constriction.

1992 30. Crawford DC. Machado MV1. Well SR. Huhta JC. in Garson A Jr. Chicago. et al: The fetus with hypertrophic cardiomyopathy related to maternal diabetes: A pre and post-natal analysis of the associated factors. Results of a 289 study in the south east Thames region. 1990 33. IL. Sharland GK. et al: Fetal complete heart block. Sharland GK. Respondek A. Semin Roentgenol 26(1):5-11. J Am Soc Echocardiogr 5(3):314. Arduini D. Cardiovasc Clin 11:97-115. et al: Coarctation of the aorta in prenatal life: An echocardiographic. 1987 41. Groenenberg JAL. 1974. 1989 7. Chita SK. Parad R. J Thorac Cardiovasc Surg 102:841-848. Jones KL: Smith's Recognizable Patterns of Human Malformation. Silverman NH: Ebstein's anomaly: Echocardiographic and clinical features in the fetus and neonate. Year Book Medical. Huhta JC. et al: Prenatal detection of truncus arteriosus by ultrasound. Huhta JC. et al: Diagnosis. et al: Atrioventricular septal defect in prenatal life. 1988 9. Appleton CP. Popp RL: Relation of transmittal flow velocity patterns to left ventricular diastolic function: New insights from a combined hemodynamic and Doppler echocardiographic study. Philadelphia. Philadelphia. Br Heart J 47:573-583. Mendez HMM. Zielinsky P. Anderson RH. Paul MH. 1987 27. J Am Coll Cardiol 8(5):1131-1136. et al: Left heart obstructive disease with ventricular hypoplasia: Changes in the echocardiographic appearance during pregnancy. Smallhorn JG: Personal communication 13. Yoon Y. pp 165-206 5. and outcome in fetuses with left ventricular outflow tract obstruction. Remolde HJA. Sanders SP. et al: Premature narrowing or closure of the foramen ovale. Am Heart J 65(5):638-647. Philadelphia. 1990 16. Shulman LP. Br J Obstet Gynaeco194:967-9774. Futura Publishers. Hop WCJ: Fetal cardiac and peripheral arterial flow velocity waveforms in intrauterine growth retardation. Wood DC: Color Doppler in the fetal examination. Estroff JA. Allan LD: Pulmonary atresia in prenatal life. 1992 43. Marasini M. 1992 31. and management of fetal tachycardia. 1988 23. J Clin Ultrasound 13:247254. pp 1656-1683 35. Anderson RH. Am J Obstet Gynecol 166(5):1473-1481. in Callen PW (ed): Ultrasonography in Obstetrics and Gynecology. Curry PVM. Blickstein I: The twin-twin transfusion syndrome. Schmidt K. 1983 25. Allan LD. Saunders. 1993 20. Huhta JC. Moise KJ Jr. 1978 12. Kirshon B.and small-for-gestational-age fetuses. et al: Pulsed Doppler fetal echocardiography. 1986 14. Am J Cardiol 66(2):233-234. 1992 22. Respondek M. et al: Absent pulmonary valve syndrome with ventricular septal defect: Role of the arterial duct. et al: Fetal hypertension and cardiac hypertrophy in the discordant twin syndrome. Strasburger JF. Huhta JC. J Am Coll Cardiol 12(2): 426-440. Crawford DC. Anderson RH. 1988 36. et al: Models of congenital heart disease in fetal lambs. Machado MVL. et al: Effect of indomethacin on the fetal ductus arteriosus during treatment of symptomatic polyhydramnios. Copel JA. 1992 37. Hill LM: Two-dimensional echocardiographic assessment of normal fetal cardiac anatomy. Wood DC: Premature constric tion of the ductus arteriosus. et al: Experimental production of hypoplastic left heart syndrome in the chick embryo. 1991 4. Br J Obstet Gynecol 99:220-225. DeCaro E. Kleinman CS. J Reprod Med 29(3):162-167. Cohen AW. 1985 34. Hatle LK. 1980 8. Opitz JM: Noonan syndrome: A review. Lev M. 1973 17. Arcella R. 1990. 1990 15. J Am Coll Cardiol 19(3):342A. Joseph MC. Pediatr Cardiol 8:261-263. Br Heart J 50:240-245. et al: Fetal echocardiography: Accuracy and limitations in a population at high and low risk for heart defects. Silverman NH. Chita SK. Huhta JC. Am J Obstet Gynecol 168(1):292. Schmidt KG. Hagler DJ. Wladimiroff JW. PA. Eur J Obstet Gynecol Reprod Biol 44:185-188. J Ultrasound Med 3:153-161. 1989 21. 1988 19. Ludomisrski A. NY. et al: 2D echocardiographic assessment of the fetal heart size in the second and third trimester of uncomplicated pregnancy. Rotondo KM: Fetal echocardiography. anatomical. Br Heart J 60:512-515. Maxwell D J. Metabolic heart disease. Brown DL. 1988. et al: Doppler diagnosis of the syndrome of fetal hypertension in discordant twins. Fishman NH. 1988 26. PA. Boyd EGC. Bromley B. Romanini C: Inferior vena cava flow velocity waveforms in appropriate. pp 1-16 11. Roberson DA. Helton JG. J Reprod Med 35(5): 529-532. Rizzo G. diagnosis. Echocardiography 6(5):393-401. Circ 58(2):354-364. Gallen WJ. Circ 80(6):1914-1917. J Am Coll Cardiol 14:1300-1307. Tahernia D. in congenital heart disease. Tolosa JE. 1989 39. 1992 . 1989 38. Carpenter RJ. Am J Cardio131:51-56. Daudt L. Curry PVI. Saunders. 1987. de Araujo LML. Emerson DS. Hagemann L. et al: M-mode echocardiography in the developing human fetus. Circ 80(6):1711-1717.SONOGRAPHIC DIFFERENTIAL DIAGNOSIS Children and Adults. 1990 24. McNamara DG (eds): The Science and Practice of Pediatric Cardiology. Hof RB. pp 109-116 3. Rudolph AM. Pongiglione G. et al: Predicting aneuploidy in fetuses with cardiac anomalies: Significance of visceral situs and noncardiac anomalies. Am J Obstet Gynecol 166(1):1271-1280. 1982 29. Allan LD: Screening for congenital heart disease prenatally. Bricker JT. 1988 28. et al: Evalua 317 tion of fetal arrhythmias by echocardiography. PA. Harh JY. transport. Huhta JC. J Clin Ultrasound 21:65-68. Rudolph AM: The fetal circulation. 1993 32. 1993 40. Noonan JA: Syndromes associated with cardiac defects. Tynan M J. Hobbins JC: Combined echo~ cardiographic and Doppler assessment of fetal congenital atrioventricular block. New York. Reed KL: Doppler ultrasound studies of human fetal blood flow. Allan LD. Zoppini C. et al: Obstetric importance. 1963 18. and functional study. Obstet Gyneco176(4):714-720. Br Heart J 59:356-360. Am J Med Genet 21:493-506. Chang AC. Br Med J 297:107-110. Silverman NH: Evaluation of the fetal heart by ultrasound. 1991 42. Huhta JC. Sullivan ID. Lea & Febiger. 1984 10. J Am Soc Echocardiogr 3(1):30-34. Br Heart J 59:352-355. Mari G. Ettedgui JA. 1985 6. Allan LD.

Figs 6 and 7 (pp 261 and 262. respectively). .Fig 12 (p 295).