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THE HOLE INSIDE THE HEART

Dr.Liliek Murtiningsih SpJP, FIHA

INTRODUCTION
The hole inside the heart refers to 3 simple congenital heart disease (CHD), defects in
structure of the heart which are present at birth, generally a single lessions with a shunt its
Atrial Septal Defect (ASD); Vntricle Septal Defect (VSD) and Patent Ductus Arterio sus
(PDA).

EPIDEMIOLOGY
Approximately 0,8% of the population is born with congenital heart disease. Up to 40% of
them are cured spontaneously (mainly small VSDs) and , with current surgical and
interventional techniques, 85% survive into adult-hood (grown-up congenital heart disease –
GUCH).
In adults, VSD and ASD are the most common defects, each of them approximately 20% of
all defect, followed by PDA and pulmonary valves stenosis

AETIOLOGY
Environmental factors are rare; congenital rubella, maternal diabetes, maternal smoking,
alcohol and drug abuse, air polutants and pestiside.
Genetic factors can be classified into three types : chromosomal disorder; single-gene
disorders and polygenic disorder.

ATRIAL SEPTAL DEFECTS


Secundum ASD is a common cardiac anomaly that may be first encountered in the adult and
females predominate (70%).
The most common ostium secundum ASD involves the fossa ovalis and is midseptal in
locations; this should not be confused with a patent foramen ovale.
ASD denotes a true deficiency of the atrial septum and implies functional and anatomic
patency. The magnitude of the left to right shunt depends on the ASD size, ventricular
diastolic properties and the relative impedance in the pulmonary and systemic circulations.
An ASD must be at least 10 mm in diameter for a significant left to right shunt, is considered
significant when the Qp / Qs ratio is greater than 1,5 or if it causes dilation of the right heart
chambers.
The RV is more compliant than the LV and, as a result, left atrial blood is shunted to the right
atrium, causing increased pulmonary blood flow and dilatation of the pulmonary arteries.
However pulmonary hypertension is uncommon, even with large defects.
PRESENTATION
Patient with small defects are asymptomatic. Patients with moderate / large ASDs often have
no symptoms until the third of fifth decade of life despite substantial left to right shunting.
The age at which symtoms appears is variable and not exclusively related to the size of shunt.
Short of breath on exercise is the most common initial presenting symptom. Atrial fibrillation
or flutter due to atrial dilatation occur at > 40 years of age and is symptomatic.
Eisenmenger syndrome occurs rarely in adults with ASD ( < 10%, predominantly in females).
Occasionally, a paradoxical embolus or transient ischaemic attack may be the first clue to the
presence of an ASD.

PHYSICAL EXAMINATION
The absence of clinical signs does not necessarilyexclude a haemodinamically important
ASD.
Dilataed pulmanary artery may be palpable in the second left interspace
Right ventricular lift may be felt on held expiration or in subxiphoid area on deep inspiration.
Soft systolic ejection murmur is heard at the upper left sternal border (pulmonary flow).
Wide and fixed split of S2, the auscultatory hallmark of an ASD is not always present
Tricuspid diastolic rumble heard at the lower left sternal border reflects a large shunt.
Loud P2 and tricuspid regurgitation may be heard with pulmonary hypertension.

INVESTIGATION
ECG sinus rythm or atrial fibrilation/flutter with right axis deviation and incomplete RBBB.
CHEST RADIOLOGY may be normal or the central pulmonary arteries may also
characteristically enlarged with pulmonary plethora and peripheral vascular pattern of shunt
vascularity ( well-visualized pulmonary arteries in the periphery of both lung)
TRANSTHORACIC ECHOCARDIOGRAPHY can estimate the defect by the the size of the
right atrium and ventricle, the presence/absence of paradoxical septal motion due to RV
volume overload, or ventricular septal orientation in diastole (volume overload) and systole
(pressure overload) and an estimation of the shunt ratio. Pulmonary artery systolic pressure
may be estimated from the Doppler velocity of tricuspid regurgitation.
TRANSOESOPHAGEAL ECHOCARDIOGRAPHY may be needed to confirm the type of
ASD and to delineate the pulmonary venous return and to guide device closure
CARDIAC MAGNETIC RESONANCE is the golden standard for the assessment of right
ventricular size and function and pulmonary venous return. In patients who cannot have an
MRI computed tomographic scanning and angiography can offer similar information.
CARDIAC catheterization no necessary anymore , unless to test vasoreactivityin pulmonary
hypertension. Coronary angiography is needed preoperatively in patients > 40 years old.
Maximal exercise maybe useful to document exercise capacity in patients with symptoms that
are discrepant with clinical findings or to document changes in oxygen saturation in patient
with mild or moderate pulmonary arteriel hypertension.
THERAPY
Small defects; < 1 cm; maybe left alone but some patients develop right heart dilation later in
life due to increased left ventricle end diastolic pressure and left to rigth shunting. Effort
should be made to maintain
ENDOCARDITIS PROPHYLAXIS is not recomended for unrepaired ASDs.

INDICATION FOR INTERVENTION IN ASD


ESC 2010 guideline on GUCH
Idication for intervention in ASD indic evid

ASD closure, regardless of symptoms in significant shunt ( sign of RV volume


overload) and PVR > 5 WU I B

Device closure for secuncdum ASD when applicable


I C
Intervention for ASD, regardless of size in patients with suspicion of paradoxical
embolism (excluxion of other causes) IIa C

Intervention for patients with PVR ≥ 5 WU but < 2/3 SVR or PAP < 2/3 systemic
pressure ( baseline or challenged with nitric oxide or after targeted PAH therapy) and IIb C
evidence of net L-R shunt ( Qp/Qs > 1,5 )

ASD closure in patient with Eisenmenger physiology


III C
PREGNANCY is well tolerated in absence of severe pulmonary arterial hypertension (PAH)
with a small risk of paradoxical embolus and stroke arrhytmia and herat failure. And when
needed; ASD closure can be deferred for 6 months after delivery. For a secundum defect,
catheter device closure can be performing during pregnancy with transoesopageal or
intracardiac echocardiographic guidance. The reccurence rate in offspring is estimated in 6-
10%.

VENTRICULAR SEPTAL DEFECTS

The VSD can be devided into two morphological components, the membranous septum and
the muscular septum.
The membranous system is small, located at the base of the heart between the inlet and outlet
components of the muscular septum, behind the septal leaflet of the tricuspid valve and below
the right and non-coronary cusp of the aortic valve.
Defects that involve the membranous septum are the most common VSD ( 70-80 % ) and are
called perimembranous, paramembranous or infracristal. The muscular septum can
be devided into inlet, trabecular and infundibular components. Defects in the inlet muscular
septum are called inlet VSD (5%), in the trabecular septum is called muscular VSD (15-20%)
if is completely rimmed by muscle, may be multiple and can be acquired a septal myocardial
infarction. Defects in the infundibular (5%) are called infundibular, outlet, supracristal, conal,
subpulmonary or doubly committed subarterial VSD
Perimembranous or infundibular VSDs are often associated with progressive Aortic
Regurgitation due to prolapse of an aortic cuspis.
With paternal VSD the recurrence risk in an offspring is 2%, maternal VSD has a recurrence
risk of 6-10%.
The aetiology of VSD are not known, there are most probably multifactorial.
The shunt volume in a VSD depends on the size of the defect and the pulmonary resistance.
The direction of shunt is left to right with decreased LV output and compensatory
intravascular volume overload. Moderate and large VSDs result in the transmission of LV
pressure to pulmonary vascular bed with increased shear forces. This combination of high
volume and pressure contributes to the development of irreversible pulmonary vascular
disease. VSD is the most common cause of pulmonary hypertension. The elevated pulmonary
vascular resistance becomes irreversible and leads to reversal of shunt (right to left) and
cyanosis, called Eisenmenger syndrome
Muscular or membranous VSDs can undergo spontaneous closure, usually in the first years of
life. Up to 90% of such defects close spontaneously by one year of age
PRESENTATION
Small VSD and normal pulmonary artery pressure are generally asymptomatic. Patients with
large defects who survive to adulthood usually have left ventricular failure or pulmonary
hypertension with associated RV failure.
PHYSICAL EXAMINATION
Physical signs depend on the size of VSD. Holosystolic (pansystolic) murmur with or without
a thrill, with moderate or large defects. The grade of murmur depends on the velocity of flow.
Very small or large defects with no shunt and defects with Eisenmenger physiology and right
to left shunt may not have a VSD murmur. Muscular defects can be heard along the lower
left sternal border and may vary in intensity, as the defect size changes with muscular
contraction throughout systole. Infundibular defects close to the pulmonary valve can be
heard best at the left upper sternal border. Short, mid-diastolic apical rumble (increased
mitral flow) may be heard. Decrescendo murmur in the presence of AR. Cyanosis with
clubbing and peripheral oedema due to right sided heart failure gradually appear.
INVESTIGATIONS
ECG is normal in small VSD. With large defects there is LA and LV hypertrophy. When
pulmonary hypertension develops, there is right axis deviation and RV hypertrophy.
Chest radiography is normal with small VSD. With large defectsthere is shunt vascularity; i.e.
well-visualized small pulmonary arteries in the periphery of both lungs. When pulmonary
hypertension develops, there is marked enlargement of the proximal Pas, rapid tapering of
the periphery arteries (pruning) and oligaemic lung fields.
Transthoracic or transoesophageal echocardiography with colour flow mapping are used for
quantification of the shunt, assasment of pulmonary arteriy pressure, distortion of the aortic
valve and obstruction of the right ventricular outflow tract ( double chamber RV ).
Cardiac magnetic resonance is very useful with complex associated lesions.
Cardiac catheterization is no longer necessary. However, it can be used to determine Qp/Qs
by oximetry and pulmonary artery pressure and resisttance in case of anticipated closure. It
can alsoassess response to pulmonary vasodilators that can guide therapy and evaluate
coexistent AR, dual chamber RV or multiple VSDs
THERAPY
Adult patients with small VSD without evidence of left ventricular volume overload or AR
do not require intervention. These patints as well as patients who had VSD repair, need
surveillance for AR (perimembranous and infundibular VSDs) and endocarditis.
Endocrditis a lifelong risk in unoperated patients, being six – times higher than in the normal
population but is primarily associated with the associated valve disease rather than the VSD
itself.
Routine endocarditis prophylaxis, however, is not recommended any more for unrepaired
VSDs. For closed VSDs, prophylaxis is recomended for 6 months after the procedure.
Instead, patients are advised on dental hygieneand the physician should be alert of suspicious
symptoms. In adults with inoperable VSDs with progressive/severe pulmonary vascular
disease, pulmonary vasodilator therapy may be considered.
Main indications are :
Qp/Qs > 1,5
History of endocarditis
Progressive AR
LV volume overload
Contraindications for closure
Irreversible PAH ( PA pressure > 2/3 systemic pressure or
PVR > 2/3 SVR at baseline or after oxygen or vasodilation
Catheter closure
Defect specific devices carry a higher risk for AV block than surgical closure. Closure
of perimembranous VSDs indicates a < 1% risk of complete AV block, which is
comparable to that after surgical closure.

PREGNANCY
Contraindicated in Eisenmenger syndrome. Women with large shunts and PAH may have
arrhytmia, LV dysfunction and progression of pulmonal hypertension. Combination of
epoprostenol and sildenafil may improve outcome in pregnant women with severe pulmonal
hypertension who choose to continue pregnancy.
INDICATION FOR CLOSURE

ESC 2010 GUIDELINE ON GUCH

INDICATIONS FOR INTERVENTION IN VSD

Surgical VSD closure in patients with symptoms that can be atributed to L-R shunting through the I C
(residual) VSD and who have no severe pulmonary vacular disease

Surgical VSD closure in asymptomatic patients with evidence of LV volume overload attributable I C
to the VSD

IIa C
Surgical VSD closure in patients with a history of infective endocarditis

IIa C
Surgery for patients with VSD-associated prolapse of an aortic valve cusp, causing progressive AR

Surgery for patients with VSD and PAH when there is still net L-R shunt (Qp/Qs > 1,5) present IIa C
and PAP or PVR are < 2/3 of systemic values (baseline or when challenged with vasodilator,
preferably nitric oxide, or after targeted PAH therapy)

Surgery in Eisenmenger VSD and when exercise-induced III C

Surgery if the VSD is small, not subarteriel, does not lead to LV volume overload or pulmonary II C
hypertensien and if there is no history of infective endocarditis

PATENT DUCTUS ARTERIOSUS


The PDA connects the proximal descendin aorta to the roof of the main pulmonary artery
near the origin of the left pulmonary artery. This fetal structure normally closes
spontaneously within the first day after birth. It rarely closes after infancy.
Approximately 10% of adult CHD are PDA; with 2:1 female to male ratio.
Most cases of PDA are seemingly sporadic, many may due to multifactorial inheritance. In
family having one sibling with a PDA there is 3% chance of a PDA in a subsequent offspring.
Genetic factor, Rubella infection during the first trimester of pregnancy, children born in high
altitude and prematurity are associated with a high incidence of PDA.
The shun flow depends on the ductal resistance and the pressure gradient between the aorta
and the pulmonary artery. Left to right shunting the ductus arteriosus result in increased
pulmonary fluid volume and left atrial and left ventricular volume overload. If the ductus
large enough the diastolic run off may result-in “steal” phenomenon with impaired coronary
perfusion. When pulmoanry resistance approaches and exceeds systemic vascular resistance
(SVR), ductal shunting reverses and become right-to-left, with eventual development of
Eisenmenger syndrome. Typically have differential cyanosis, where the cyanosis and
clubbing of the toes but not the fingers, because the right-to-left ductal shunting is distal to
the subclavian arteries. Cyanosis may be more profound when SVR is elevated, such as in hot
weather or after exercise. Infective endarteritis and aneurysm may rupture or present with
symptoms of a thoracic mass including hoarseness due to left vocal cord paralysis from left
laryngeal nerve impingement and left bronchial obstruction. One-third of patients with
unpaired PDA died of heart failure, pulmonary hypertension or endarteritis by the age of 40
years, and two-thirds died by the age of 60 years.

PRESENTATION
The clinical significance of the PDA depends on its size. Patients may be completely
asymptomatic with a heart murmur or present due to exercise intolerance, endovascular
infection or atrial fibrillation. Although most patients compensated well, even with a
moderate left-to-right shunt,and remain asymptomatic during childhood, they may develop
congestive heart failure or Eisenmenger syndrom in adulthood.

PHYSICAL EXAMINATION
Patients with very small PDA have no abnormal physical findings. A continuous murmur
may be herad.
In moderate or large PDA contnuous (machienary) murmur in upper left sternal border below
the left clavicle. It is louder insystole and may radiated into the back, and thrill may be
present, S2 may be inaudible. LV apex prominent and collapsingperipheral pulses.
Pulmonary ejection click and pulmonary regurgitation appears as pulmonary hypertension
(PAH) develops.

INVESTIGATION
Chest radiograph may be normal or display cardiomegaly ( LA and LV enlargement) with
increased pulmonary vascular markings. The main pulmonary artery is enlarged, in older
adults with PAH, calcification of the ductus may be evident.
ECG normal or AF; LV hypertrophy and LA enlargement in patients with moderate or large
ductus shunts.
Echocardiography coulor Doppler is used for detecting the presence of PDA and estimating
the degree of shunting . in patients with high PVR and PDA with low velocity or right-to-left
flow, the PDA may be difficult to demonstrate.
Cardiac magnetic resonance useful in patients with unusual PDA geometry. Computed
tomography can assess the degree of calcification wich may be important if surgical theraphy
is considered.
Cardiac catheterization for uncomplicated PDA with adequate non-invasive imaging is not
indicated. Detailed assessment of the ductal anatomy by angiography is essential of selection
for proper device size for transcatheter closure.

THERAPY
PDA is associated with various complications of prematurity, and cyclo-oxygenase inhibitors
such as ibuprofen are the first-line intervention for closure of the PDA.
Routine closure of even small PDAs is now recomended by most experts. The rationale is
that endarteritis of clinically silent PDA has been reported and device closure is now effective
and safe. Patients with PDA and pulmonal vascular disease who are considered unacceptable
candidates for definitive closure may be managed with pulmonary vasodilating agents such as
chronic oxygen, PGI2, calcium channel blockers, endothelin antagonists and
phosphodiesterase inhibitors. One strategy in such patients is to accomplish partial closure of
the ductus by surgery or transcatheter techniques to make it “restrictive”, but not completely
closed, followe by longterm therapy with pulmonary vasodilating agents. If, in follow-up, the
PVR decreases, then complete closure may be considered.
Routine follow-up is recommended for patients with a small PDA without evidence of left-
sided heart volume overload. Follow-up is recommended every 3 to 5 years for patients with
a small PDA without evidence of left heart volume overload.
Transcatheter closure has become the treatment of choice in children and adult, especially in
cases of calcified ductusarteriosus with increased PVR. The most commonly used occluders
are the Nit-Occlud coil occlusion system and the Amplatzer duct occluder. Complications of
transcatheter closure, such as device embolization of the patent ductus are rare. Other rare
complications are flow disturbance in the proximal left pulmonary artery or descending aorta
fro a protruding device, haemolysis from high velocity residual shunting, and infection.
Surgical repair remains the treatment of choice for the rarely very large ductus.
Infective endocarditis prophylaxis is not recommended any more for unrepaired PDAs. Fos
closed PDAs, prophylaxis is recommended for 6 months after the procedure .
ACC/AHA 2010 GUIDELINE ON GUCH

LEV LEV
RECOMMENDATIONS FOR MEDICAL THERAPY IND EVID

Routine follow-up is recommended for patients with a small PDA without evidence of left- I C
sided heart volume ovrload. Follow-up is recommended every 3 to 5 years for patients with
small PDA without evidence of left-sided heart volume overload.

Endocarditis prophylaxis is not recommended for those with a repaired PDA without residual III C
shunt

RECOMMENDATIONS FOR CLOSURE OF PDA

CLOSURE OF A PDA, EITHER PERCUTANEOUSLY OR SURGICALLY, FOR:

a. Left atrial and/or LV enlargement or i PAH is present, or in the presence of net left-to- I C
right shunting

b. Prior endarteritis I C

Careful evaluation and consultation with ACHD interventional cardiologist is recommended I C


before surgical closure is selected as the method of repair for patients with calcified PDA

Surgical repair, by a surgeon experienced in CHD surgery, is recommended when :

a. The PDA is too large for device closure I C


b. Distorted ductal anatomy precludes device closure (aneurysm, endarteritis) I B
Closure of asymptomatic small PDA by catheter device IIa C
PDA closure in PAH with a net left-to-right shunt IIa C
PDA closure in PAH and net right-to-left shunt III C

CONCLUSION
ASD, VSD, PDA mostly need to identify initially in early birth.
Most of them should close spontaneously
In moderate to large the hole inside the heart usualy would be repaired, with device closure or
surgical technic.
Non cardiac surgery for patients with CHD need preoperative evaluation and surgery for
patients with CHD should be performed in specializing centres with experienced surgeons
and cardiac anaesthesiologists
Coronary arteriography is indicated preoperatively in patients > 40 years, post menopausal
women, adults with multiple risk factors for coronary artery disease and children with
suspicion of congenital coronary anomalies.
REFERENCES
1. Baumgartner H, et al. ESC guidelines for the management of grown-up
congenital heart disease (new version 2010). Eur Heart J. 2010;31:2915-57
2. Griffin BP, et al. Manual of cardiovascular medicine: Adult congenital
heart disease. Lippincott Williams&Wilkins 4th ed. 2013; 509-536.
3. Loscalzo J, et al. Harrison’s Cardiovascular medicine. 2nd ed: Congenital
heart disease in the adult. McGraw-Hill 2nd ed. 2013; 207-218.
4. Walsh RA, Fang JC, et al. Hurst’s the Heart Manual of cardiology:
Congenital heart disease in adults. McGraw-Hill 13rd ed. 2013; 513-523.
5. Warnes CA, et al. ACC/AHA 2008 guidelines for the management of adults
with congenital heart disease: a report of the American College of
Cardiology?American Herat Association Task Force on practice guidelines.
J Am Coll Cardiol. 2008; 52: e143-263.

------------ Surabaya, September 13rd 2015 -------------- SCU PERKI--------------