CHAPTER I INTRODUCTION Sistem kardiovaskular menjalankan fungsinya melalui organ jantung dan pembuluh darah.
Dimana organ yang memiliki peranan penting dalam hal ini adalah jantung yang juga merupakan organ besar dalam tubuh. Jantung adalah organ berupa otot berbentuk kerucut. Fungsi utama jantung adalah untuk memompakan darah ke seluruh tubuh dengan cara mengembang dan menguncup yang disebabkan oleh karena adanya rangsangan yang berasal dari susunan saraf otonom. Seperti pada organ-organ yang lain, jantung juga dapat mengalami kelainan ataupun disfungsi. Penyakit jantung dapat dibedakan dalam dua kelompok, yaitu penyakit jantung didapat dan penyakit jantung bawaan. Penyakit jantung bawaan adalah kelainan struktural jantung yang kemungkinan terjadi sejak lahir dan beberapa waktu setelah bayi dilahirkan. Salah satu jenis penyakit jantung yang tergolong penyakit jantung bawaan adalah VSD yang paling sering ditemukan, yaitu 30% dari semua jenis penyakit jantung bawaan. Pada sebagian kasus, diagnosis kelainan ini ditegakkan setelah melewati masa neonates, karena pada minggu-minggu pertama bising yang bermakna biasanya belum terdengar oleh karena resistensi vascular paru masih tinggi dan akan menurun setelah 8-10 minggu.
The term is generally reserved for defects lying immediately under the pulmonary valve.1 Definition Supracristal (or doubly committed) ventricular septal defect (VSD) is the least common type of VSD in the Western Hemisphere.CHAPTER II CONTENT 2. usually small. and. A defect. The location of the supracristal VSD. Left-to-right shunting of blood through the defect is believed to progressively pull aortic valve tissue (especially the right coronary cusp) through a Venturi effect (see the image below).
Parasternal long-axis echocardiogram view showing supracristal ventricular septal defect (arrow) with buckling and prolapse (***) of the right coronary leaflet of the aortic valve. technically can be termed supracristal. accounts for the common development of aortic insufficiency with this defect. including in the United States. may occur within the conus septum. Defects above this part of the septum are referred to as supracristal defects. with its close proximity to the aortic root. The spiraling course of the ventricular septum may make diagnosis of supracristal VSD more difficult
. It is the portion of the septum that separates the tricuspid and pulmonary valves. accounting for approximately 5-7% of such defects in this part of the world. The crista supraventricularis can be considered synonymous with the infundibular (or conus) ventricular septum.
The term supracristal may be misleading because the entire conus septum (or a major portion of the septum) may be missing. 2. extending inferiorly to the perimembranous septum.Unlike the more common perimembranous type of VSD. This portion of the septum also provides fairly rigid. muscular support for the aortic valve. The term is commonly used. From a surgical perspective. especially the right coronary cusp. Conduction system tissue lies inferior to the supracristal VSD.
. The conduction system may lie closer to a larger defect that crosses from the outlet septum into the perimembranous area. Patients and families should be educated on the importance of good oral and dental hygiene. looking through the tricuspid valve. the supracristal VSD does not lie near the tricuspid valve. emphasizing the superior location of the defect along with its close approximation to the aortic and pulmonary valve leaflets. the tricuspid valve is not involved in partial closure of the defect. a defect lying in the conus septum may not be visualized from the standard right atriotomy approach. however. Unless the supracristal defect is large. 2.2 Anatomy The infundibular (or conus) septum separates the tricuspid and pulmonary valves and accounts for the more superior placement of the pulmonary valve relative to the aortic valve. Patients with small.The patient’s risk of developing infective endocarditis is higher for supracristal VSD with aortic insufficiency than it is for an isolated VSD.3 Pathophysiology The natural history of supracristal ventricular septal defects (VSDs) depends on the location and size of the defect. The plane of the conus septum in the right ventricular outflow tract lies almost perpendicular to that of the remainder of the septum. Lack of support for the right aortic leaflet is crucial to the natural history of this type of VSD. Routine prophylaxis for dental or surgical procedures is no longer recommended unless there has been a prior episode of endocarditis. Numerous synonyms indicate the confusion often associated with describing supracristal ventricular septal defects (VSDs). isolated supracristal VSDs may have no symptoms or signs of congestive failure such as might be observed with a large shunt.
Progressive aortic insufficiency may develop late in the first decade of life. reaching 25% of all VSDs in patients from this part of the world. supracristal ventricular septal defects (VSDs) have been induced in a high percentage of chick embryos. as supracristal VSDs are much more common in persons of Asian descent than in individuals of other races. Progressive distortion of the aortic leaflet or sinus may lead to increasing aortic valve insufficiency. Extracardiac mesenchyme. interrupted aortic arch). isolated supracristal VSDs may develop congestive heart failure early in infancy due to a large left-to-right shunt. possibly. Disruption of apoptosis and myocardialization has been proposed to explain these findings. the right sinus of Valsalva. derived from neural crest tissue. however. Although the overall incidence of VSDs is no greater in Asians than in other groups. coarctation. In the Eastern Hemisphere.5 Epidemology As stated above. 2. 2. While spontaneous closure is not common. In such cases.4 Etiology The muscular outlet septum is primarily formed from the proximal endocardial ridges (similar to endocardial cushion tissue). symptoms of congestive heart failure and possible circulatory collapse appear early. This valve leaflet prolapse is believed to result from the Venturi effect. supracristal ventricular septal defect (VSD) accounts for approximately 5-7% of VSDs in the Western Hemisphere. as the high-velocity shunt flow produces negative pressure. a decrease in the magnitude of the left-to-right shunt may occur due to progressive prolapse into the defect of aortic valve tissue (the right coronary cusp or. Larger defects of the outlet septum frequently are associated with forms of aortic outflow obstruction (eg. the incidence of this condition is much higher. Patients with larger. Semilunar valve tissue and the actual connection between the septum and the arteries are formed by the more distal endocardial ridges.
. By exposing neural crest tissue to homocysteine. Deletions in this area have not been linked with isolated supracristal VSDs. condenses as prongs (which act as a welding agent) with the most superior portion of the distal cushions to form the aortopulmonary septum. The frequent association between arch abnormalities and significant conal VSDs suggests a common mechanism involving a chromosome band 22q11 microdeletion.
with no signs of respiratory distress or growth failure. In this case. Infants with only a large left-to-right shunt usually develop symptoms in the second month of life. isolated defects. a large defect may produce no murmur from the defect itself. a murmur may result from turbulent flow through the pulmonic valve. may present as early as the first week of life with profound congestive heart failure and cardiogenic shock. the relative systemic and pulmonary vascular resistances. thus becoming crescendo-decrescendo in character. This murmur may radiate laterally and posteriorly because of shunt flow directed into the branch pulmonary arteries. symptoms and severity are a function of the size and location of the defect. although early detection and treatment for valve insufficiency should obviate any significant symptoms. 2. and the presence of associated abnormalities.6 Clinical Presentation In patients with supracristal ventricular septal defects (VSDs).supracristal VSDs account for approximately 30% of VSDs in Asians. General examination findings remain normal. especially those associated with significant left ventricular outflow obstruction (eg. the second heart sound splits and varies normally
. but one may assume that it is genetically determined. Higher occurrence of the condition in this population has not been adequately explained. doubly committed subarterial defect with interrupted aortic arch). The murmur of an isolated. small supracristal ventricular septal defect (VSD). As with other types. With a small shunt. noisy quality. more superior than other VSDs). it begins with the first heart sound and has a similar harsh.Exercise intolerance and dyspnea suggest progressive aortic insufficiency.7 Physical Examination Congestive heart failure does not occur in the patient with an isolated. small supracristal VSD is similar to that of other types of small VSDs. While it may be loudest in the third left intercostal space (ie. Infants with larger defects. Symptoms may range from severe congestive failure and cardiogenic shock in patients with large conal defects and left heart obstruction to complete absence of symptoms in patients with small. 2. Second heart sound findings depend on volume of shunt flow as well as pulmonary artery pressure and resistance.
left atrial pressure increases. the difference between systolic and diastolic blood pressures) and pulse amplitude. physical examination should focus on whether aortic insufficiency is present. Significant aortic insufficiency may cause a late diastolic murmur at the apex resulting from atrial contraction augmenting late ventricular filling. This systolic-diastolic murmur combination should not be misinterpreted as a continuous murmur (eg. the pulmonary component of S2 increases in intensity. and the pulmonary component is normal in intensity. 2. Blood pressure must be carefully evaluated for pulse pressure (ie. With significantly elevated pulmonary vascular resistance. If left ventricular end diastolic pressure increases. This is the Austin Flint murmur. the aortic component of S2 decreases in intensity.
. arteriovenous malformation or fistula). thus causing an increase in intensity of the pulmonic component of S2. as these increase with increasing aortic insufficiency unless heart failure also occurs. With significant aortic insufficiency.with respiration. patent ductus arteriosus.8 Supporting Examination The recurrence risk for the offspring of mothers with supracristal ventricular septal defect (VSD) is estimated at 4-5%. With a large left-to-right shunt. in which case the splitting interval of S2 is decreased. Detailed prenatal fetal echocardiography (ECHO) may be indicated. rapid (passive) filling of the left ventricle. Intensity of this sound is further increased if pulmonary resistance is increased. Supracristal VSD cannot be identified from a routine prenatal 4-chamber view. middiastolic apical murmur due to enhanced. When a patient is known to have a supracristal VSD. The combined systolic and diastolic murmurs of supracristal VSD with aortic insufficiency may be likened to the sound of sawing wood. With a large shunt. It is best heard along the left sternal border. and elevated pulmonary artery pressure. usually in the third left intercostal space at the sternal edge. shunt flow decreases and this diastolic murmur does not occur. one should hear a short. the recurrence risk for the offspring of fathers with the condition is approximately 2-3%. lowfrequency. Aortic insufficiency causes a high-pitched diastolic murmur beginning with the aortic component of the second heart sound.
in such cases. With larger defects. as well as both left and right ventricular hypertrophy. cardiomegaly (left heart enlargement. 2. left atrial enlargement and left ventricular hypertrophy [tall R waves in the left precordium with or without ST-T changes]). thus pulmonary arterial vascularity is generally normal.8. In the older child and adult. A diagnostic pitfall associated with supracristal VSD is the failure to diagnose the condition adequately and. Advanced left heart failure produces pulmonary edema. Radiography in the older child or adult with progressive aortic insufficiency may reveal left heart enlargement (particularly left ventricular enlargement) and prominence of the ascending aorta. transthoracic ECHO findings may be inconclusive. If a large shunt is present. Two-dimensional transthoracic echocardiography Echocardiography (ECHO) provides the most efficient means to diagnose supracristal ventricular septal defect (VSD) accurately (see the image below) and the most effective means to monitor progressive aortic insufficiency. electrocardiography usually reveals evidence of left heart enlargement from volume overload (ie. failure to recognize the potential for aortic valve involvement.1 Imaging Studies Chest radiography Chest radiography is normal in infancy if the left-to-right shunt is small.Electrocardiographic findings may be normal in infancy. therefore. both the left atrium and the left ventricle) with increased pulmonary vascularity from increased pulmonary blood flow may be observed. With progressive aortic insufficiency in the older child or adult. Shunt volume is generally smaller. transesophageal ECHO may be extremely helpful. because the defect may not be large enough to cause a significant left-to-right shunt and ventricular hypertrophy.  An accurate diagnosis can generally be made in infants and children with standard transthoracic ECHO examination findings.
. the electrocardiogram (ECG) may show left atrial enlargement.
and pulmonary root. A supracristal VSD cannot be imaged from the apical 4-chamber view because of the orientation of the outlet septum. The defect can also be observed well in the subcostal parasagittal view (ie.
. aortic root.Parasternal long-axis echocardiogram view showing supracristal ventricular septal defect (arrow) with buckling and prolapse (***) of the right coronary leaflet of the aortic valve. left atrium. careful. Distortion of the right aortic leaflet may be the only clue to the presence of a significant supracristal VSD. slow-motion review of color flow results (with electrocardiographic timing) may reveal the early appearance of turbulent flow below the pulmonary valve. equivalent to the transesophageal view with transducer at 90°). left ventricle. visualizing the pulmonary and aortic outflow tracts). Color Doppler echocardiography Color Doppler examination using the parasternal short-axis view reveals left-to-right shunting with turbulent flow directed into the pulmonary outflow tract and often across the pulmonary valve. however. Two-dimensional (2D) imaging reveals the supracristal VSD in the parasternal short-axis view or the modified apical 3-chamber view (ie. because the aortic leaflet may obstruct the defect. This turbulence may be confused with pulmonary stenosis.
Turbulent shunt flow is shown directed into the main pulmonary artery. showing sinus of Valsalva aneurysm leaking through a supracristal ventricular septal defect (VSD) The best way to detect aortic insufficiency is by color Doppler in the parasternal long-axis and apical 5-chamber views. The patient is an infant with neither aortic valve prolapse nor aortic insufficiency. color jet–to–outflow width ratio. pressure half time).
Subcostal "right ventricular inflow/outflow" view showing the close relationship between the aortic and pulmonic valves in the presence of supracristal ventricular septal defect. The modified apical 3-chamber view can also be used to detect left-toright shunting and aortic insufficiency.Parasternal short-axis echocardiogram view with color Doppler showing proximity of ventricular septal defect jet to the aortic and pulmonic valves.
Transesophageal horizontal view of aortic root and right ventricle. The patient is an infant with neither aortic valve prolapse nor insufficiency. Numerous methods are available to provide semiquantitative information on the severity of aortic insufficiency (eg.
Magnetic resonance imaging Magnetic resonance imaging (MRI) may be used with appropriate projections and alignment to show the pulmonary outflow tract.Threedimensional echocardiography may prove useful in differentiating supracristal VSD from unruptured sinus of Valsalva aneurysm. Small supracristal defects may not be identified in the standard long-axial oblique projection because of rotation of the septum. Blood flow studies can be used to provide quantitative information on regurgitant volume in the assessment of aortic insufficiency. If
. although specific findings with supracristal defects have not been reported.The best way to identify progression of aortic insufficiency by echocardiography is by serial comparison of left ventricular systolic and diastolic dimensions and ventricular function (shortening fraction or ejection fraction). Step-up in oxygen saturation may be detected in the pulmonary artery rather than in the right ventricular cavity because of streaming of the shunted blood into the pulmonic trunk. even though the apparent volume of the left-to-right shunt may be small. Angiography Supracristal VSD is best defined in the right anterior oblique projection or in the cranially tilted left anterior oblique projection. Serial MRI studies can be helpful in that they do not expose the patient to ionizing radiation. Three-dimensional echocardiography Three-dimensional (3D) echocardiographic imaging of VSDs closely correlates with surgical findings. Distortion of an aortic valve cusp may be the only clue to a supracristal VSD of significant size.8. 2.2 Catherization Cardiac catheterization can quantify shunt volume and pulmonary arterial
resistance. Progressive left atrial enlargement can be a sign of ventricular diastolic dysfunction.
pain. 2. but not always. depending on the size of the defect. and vascular occlusion. tachyarrhythmias. nausea and vomiting.aortic valve prolapse is significant.9. and incision through the aortic root can allow adequate visualization for valve repair (Trusler technique). vascular disruption after balloon dilation. Aortic insufficiency in supracristal VSD is usually progressive and warrants an aggressive approach with early intervention to avoid aortic valve deformity and replacement. because the abnormal aortic valve typically requires replacement rather than repair in cases of aortic insufficiency. Aortic valvuloplasty is often. because the ventricular septal defect (VSD) in such cases is partially obstructed. Postcatheterization concerns include hemorrhage. Surgical intervention is usually delayed in the latter disorder. The
. which exposes the defect through the pulmonic valve. bradyarrhythmias. surgical closure is recommended in most cases.9. has proved successful. necessary. because these diagnostic studies are more sensitive than auscultation in detecting valve regurgitation. and arterial or venous obstruction from thrombosis or spasm. 2. Aortic insufficiency caused by supracristal VSD must be differentiated from that caused by an abnormal aortic valve (usually a bicuspid valve). Possible complications also include blood vessel rupture. Because spontaneous closure is uncommon in supracristal VSDs and aortic insufficiency is a common complication. carefully monitor patients for the development of aortic insufficiency. Repair may be achieved with patch or suture closure. This necessitates not only periodic physical examination with auscultation but also serial and Doppler echocardiograms.1 Treatment Once the diagnosis of supracristal ventricular septal defect (VSD) has been made. a surgical approach from the right atrium may not allow adequate visualization of the ventricular septal defect (VSD).2 Surgical Treatment Because of the orientation of the right ventricular outflow tract. Incision into the main pulmonary artery. left-to-right shunting by oximetry may be fairly unremarkable.
making eventual valve replacement more likely. Care should be taken to avoid capturing the aortic cusp into one of the patch sutures. Young infants and toddlers presenting with supracristal VSDs are more likely to have findings of left-toright shunt only. Morbidity or mortality in supracristal VSD is generally not the result of a large left-to-right shunt. 2. this results in left ventricular enlargement and eventual congestive heart failure. Follow-up intraoperative assessment should be used to rule out residual insufficiency. it is caused by the development of aortic valve insufficiency. While it may occur earlier in infancy. Intraoperative transesophageal echocardiographic monitoring can be extremely helpful in precisely defining aortic valve prolapse and the severity of valve insufficiency. onset of aortic valve prolapse and progressive aortic insufficiency generally begins in children aged 6-10 years. Delayed recognition of or surgical treatment for progressive aortic valve insufficiency may lead to severe distortion of the aortic valve leaflet. Rather.Patients with supracristal ventricular septal defect (VSD) are at increased risk of infective endocarditis. When progressive and severe. More extensive damage to the aortic valve from long-standing prolapse and distortion may require valve replacement.
. hence the admonition to address this problem early.approach through the main pulmonary artery avoids the need for incision into the right ventricle. which determine the necessity of valvuloplasty. The risk is higher if aortic valve insufficiency is present. The appearance of aortic insufficiency as a complication of supracristal VSD is related to age. Follow-up care after supracristal ventricular septal defect (VSD) repair and aortic valvuloplasty is essential to ensure that the aortic insufficiency has been corrected completely.10 Prognosis The prognosis in patients with supracristal ventricular septal defect (VSD) should be considered good to excellent when the potential complication of aortic valve insufficiency is recognized and aggressively treated.