CONGENITAL HEART DISEASES

ACYANOTIC HEART DISEASE

Acyanotic Heart Diseases LEFT TO RIGHT SHUNTS OBSTRUCTIVE LESIONS REGURGITANT LESIONS

Acyanotic Heart Disease Increased Volume Load LVE VSD, PDA, AVSD RVE ASD, PAPVR Increased Pressure Load LVH Coarcation of the Aorta, Mitral regurgitation Aortic Stenosis RVH Pulmonary Stenosis, Mitral Stenosis

LEFT TO RIGHT SHUNT

Determinants of L to R shunting Size Of the Defect Relative Compliance of the Right and Left Ventricle Relative Vascular Resistance in the Pulmomary and Systemic Circulations The degree of the left to right shunting is dependent on the size of the defect, the relative compliance of the right and left ventricules and the relative vascular resistance in the pulmonary and systemic circulations Size of the defect Larger defect, increased shunting. The amount of blood added to the usual venous return to the atrium and is pumped by the right ventricle to the lungs. The ratio of pulmonary to systemic blood flow is between 2:1 and 4:1. Relative compliance of the right and left ventricles The right ventricle in infants is thick and less compliant, thus, left to right shunting is limited However, when the child gets old, the right ventricular wall becomes thinner, thus increasing the left to right shunting Relative resistance of the pulmonary and systemic circulation The pulmonary vascular resistance drops in older patients, hence, increased left to right shunting

HEART FAILURE SIGNS LEFT TO RIGHT SHUNT Communication between the pulmonic and systemic circulation Increase blood flow to the lungs HEART FAILURE SIGNS

(dilatation of the heart) Heart Remodeling (dilatation of the heart) Increase Sympathetic nervous system Increase pulmonary vascular resistance (EISENMENGER PHYSIOLOGY) The increase in the blood flow to the lungs - decrease pulmonary compliance and increase work of breathing

Left to Right Shunt Atrial Septal Defect Atrioventricular Septal Defect Partial Anomalous Pulmonary Venous Retur Ventricular Septal Defect PDA Coronary-AV Fistula Ruptured Sinus of Valsalva Aneurysm

Atrial Septal Defect Majority of the cases are sporadic Autosomal dominant does occur as part of the Holt Oram syndrome (hypoplastic or absent radius, 1st degree heart block and ASD

Atrial Septal Defect Secundum Most common form and is associated with structurally normal atrioventricular valves Region of the fossa ovalis May be single or fenestrated, openings ≥2cm in largest diameter are common in symptomatic older children Majority of the cases are sporadic Autosomal dominant does occur as part of the Holt Oram syndrome (hypoplastic or absent radius, 1st degree heart block and ASD

Atrial Septal Defect Enlargement of the pulmonary artery Enlargement of the right atrium Normal Left Ventricle and Aorta

Atrial Septal Defect Clinical Manifestations and findings Wide and fixed splitting 2nd heart sound Mild left precordial bulge Right ventricular systolic lift on the left sternal border Systolic ejection murmur at the left middle and upper sternal border Loud 1st heart sound and sometimes a pulmonic ejection click Short rumbling Mid-diastolic murmur on the lower left sternal border Wide and fixed splitting of the 2nd heart sound is developed due to the increasing amount of right ventricular diastolic volume and prolonged ejection time, thus delayed closure of the pulmonary valve Systolic ejection murmur is caused by increased flow across the right ventricular outflow tract into the pulmonary artery (not caused by the low-pressure flow across the ASD) Short rumbling mid-diastolic murmur on the left sternal border due to increased blood flow across the tricuspid valve (indicates a Qp: Qs ratio of 2:L)

Atrial Septal Defect Diagnostics Chest Xray:RVE, RAE, pulmonary artery is large and pulmonary vascularity is increased ECG: normal or right axis deviation and a minor right ventricular conduction delay (rsR pattern in the right precordial leads

Atrial Septal Defect Diagnostics 2D echo increased right ventricular-end-diastoic dimension and flattening and abnormal motion of the ventricular septum (anterior movement in systole or it remains straight. ASD confirmed by pulsed and color flow Doppler

Atrial Septal Defect Treatment Surgical or transcatheter device closure is advised for all symptomatic patients and also for asymptomatic patients with a Qp:Qs ratio of at least 2:1

Sinus Venosus Atrial Septal Defect Upper part of the atrial septum in close relation to the entry of the SVC May be related to Partial Anomalous Pulmonary Venous return Sometimes the superior vena cava straddles the defect (rarely involves the IVC) Tx: Surgical If the superior vena cava straddles the defect, some venous blood enters the left atrium, but rarely causes clinically evident cyanosis Anatomic correction generally requires the insertion of a patch to close the defect while incorporating the entry of anomalous veins into the left atrium If the anomalous vein drains high in the superior vena cava, the vein can be left intact and the ASD closed to incorporate the mouth of the SVC into the leftatrium The SVC proximal to the venous entrance is then detached and anastomosed directly to the right atrium

Partial Anomalous Pulmonary Venous Return May drain into the: SVC or IVC, Right atrium, Coronary Sinus May involve some or all of the veins from only 1 lung (right>left) Scimitar Syndrome An anomalous vein draining into the IVC is visible on Chest Xray as a crescentic shadow of vascular density along the right border of the cardiac silhouette

Scimitar Syndrome Scimitar syndrome: ASD is not usually present but pulmonary sequestration and anomalous arterial supply to that lobe are common findings

Partial Anomalous Pulmonary Venous Return Dx: 2D Echo Cardiac catheterization Selective pulmonary arteriography: presence of anomalous pulmonary veins Descending aortography: anomalous pulmonary arterial supply to the right lung Prognosis: Excellent Tx: Surgical if large left-to-right shunting

Atrioventricular Septal Defects (Ostium Primum and AV Canal Defects) Situated in the lower portion of the atrial septum and overlies the mitral and tricuspid valve A cleft in the anterior leaflet of the mitral valve can be seen

Atrioventricular Septal Defects (Ostium Primum) Pathophysiology: left to right shunt across the atrial defect and mitral (or occasionally tricuspid insufficiency Pulmonary arterial pressure is typically normal or only mildly increased Pathophysiology: similar to ostium secundum ASD

Atrioventricular Septal Defects (Ostium Primum) Clinical Manifestations Asymptomatic History of exercise intolerance, easy fatigability and recurrent pneumonia (with large defects and severe mitral insufficiency) Harsh or occasionally high-pitched apical holosystolic murmur (due to mitral insufficiency) Cardiac enlargement and hyperdynamic precordium Pathophysiology: similar to ostium secundum ASD

Atrioventricular Septal Defects (Ostium Primum) Clinical Manifestations Other findings: normal or accentuated 1st heart sound; wide, fixed splitting of the 2nd sound; pulmonary ejection murmur sometimes preceeded by a click; low-pitched and diastolic rumbling murmur at te lower left sternal edge or apex or both Pathophysiology: similar to ostium secundum ASD

Atrioventricular Septal Defects (AV Canal Defects) AV canal defect or endocardial cushion defect Contiguous AV septal defects with markedly abnormal AV valves

Atrioventricular Septal Defects (Ostium Primum and AV Canal Defects) Complete form: single AV valve common to both ventricles and consists of an anterior and a posterior bridging leaflet related to the ventricular septum with a lateral leaflet in each ventricle Common to Down syndrome

Atrioventricular Septal Defects (AV Canal Defects) Left or right dominant AVSD due to hypoplasia of one of the ventricles

Atrioventricular Septal Defects (AV Canal Defect) Pathophysiology L to R shunting occurs at both atrial and ventricular levels; with shunting from the left ventricle to the right atrium (due to the absence of the AV septum) Pulmonary hypertension and increased tendency to develop pulmonary vascular resistance  right to left shunting  cyanosis (Eisenmenger syndrome) AV valvular insufficiency

Atrioventricular Septal Defects (AV Canal Defect) Clinical Manifestations Heart failure and intercurrent pulmonary infection Enlarged liver Failure to thrive

Atrioventricular Septal Defects (AV Canal Defect) PE findings Cardiac enlargement Systolic thrill at the lower left sternal border Precordial bulge and lift Normal or accentuated 1st heart sound Widely split 2nd heart sound Low pitched, mid-diastolic rumbling murmur, lower left sternal border Pulmonary systolic ejection murmur Harsh apical holosystolic murmur

Atrioventricular Septal Defects (AV Canal Defect) CXR: prominent ventricles and atrium 2D echo RVE with encroachment of the mitral valve echo on the left ventricular outflow tract “gooseneck” deformity of the left ventricular outflow tract Both valves insert at the same level Common AV valve Gooseneck deformity: caused by the pseudooverriding of the ascending aorta due to abnormal low position of the AV valve

Atrioventricular Septal Defects (AV Canal Defect) Treatment Ostium septum defect: Patch prosthesis for the closure of ASD and direct suture for the cleft in the mitral valve AV septum defect: surgical operation during infancy (due to the risk of pulmonary vascular disease as early as 6-12 months of age)

Patent foramen Ovale Not an ASD Left to right shunting is unusual but may occur in the presence of a large volume load or hypertensive left atrium Does not require surgical treatment but may be a risk for paradoxical systemic embolization. Device closure is considered if there is a history of thromboembolic stroke

Ventricular Septal Defect Most common cardiac malformation (25% of CHD) Different types: Membranous type: most common Infundibular types Muscular Supracrista

Ventricular Septal Defect Determinants of the magnitude of the L to R shunting Size restrictive VSD (<5mm) Level of Pulmonary resistance in relation to systemic resistance Nonrestrictive VSD (>10mm) In restrictive VSD, the right ventricular pressure is normal. However, the higher pressure in the left ventricle drives the shunt left to right In nonrestrictive VSD, the right and left ventricular pressures are equalized. In these defects, the direction of shunting and the shunt magnitude are determined by the ratio of pulmonary to systemic vascular resistance

Ventricular Septal Defect At birth, the pulmonary vascular resistance is elevated, thus the size of the left to right shunting is limited Few weeks after birth, there is decrease in pulmonary resistance With continued exposure of the pulmonary vascular bed to high systolic pressure and high flow, pulmonary vascular obstructive disease develops  Eisenmenger syndrome

Ventricular Septal Defect Clinical Manifestations Small VSDs Asymptomatic Loud, harsh or blowing holosystolic murmur on the left lower sternal border (frequently with thrill) In neonates with VSD on the apical muscular septum, murmur heard on the apex During

Ventricular Septal Defect Clinical Manifestations Large VSD Dyspnea, feeding difficulties, poor growth, profuse perspiration, recurrent pulmonary infections and cardiac failure Cyanosis Prominence of the left precordium (palpable lift) Laterally displaced apical impulse and apical thrust Systolic thrill During

Ventricular Septal Defect Clinical Manifestations Large VSD Less harsh but more blowing systolic murmur Increased pulmonic component of the 2nd heart sound Mid-diastolic, Low pitched rumble at the apex Increased blood flow to the mitral valve Qp:Qs ratio ≥2:1 During

Ventricular Septal Defect Diagnosis Chest Xray Small VSDs: normal or minimal cardiomegaly and borderline increased in pulmonary vasculature Large VSDs Gross cardiomegaly with prominence of both ventricles, left atrium and pulmonary artery Pulmonary vascular markings are increased Pulmonary edema During

Ventricular Septal Defect Clinical Manifestations 2D echo Helpful in estimating shunt size, the degree of volume overload, the increased dimensions of chambers and presence of other valve defects (including aortic valve insufficiency or prolapse) Pulse doppler examination calculates pressure gradient across the defect During

Ventricular Septal Defect Treatment 30-50% close spontaneously, most frequently during the 1st 2 years of life Small muscular VSDs > membranous During

Ventricular Septal Defect Treatment Indications for surgical closure Large defects in whom clinical symptoms and failure to thrive cannot be controlled medically Infants between 6 and 12 months with large defects associated with pulmonary hypertension Patients older than 24 months with Qp:Qs ratio greater than 2:1 Supracristal VSD Contraindication to surgery: severe pulmonary vascular disease nonresponsive to pulmonary vasodilators Supracristal VSD: due to higher chances of developing aortic insufficienvy

Patent Ductus Arteriosus Location: the aortic end is distal to the origin of the left subclavian artery and enters the pulmonary artery at its bifurcation Associated with maternal rubella infection Preterm: the smooth muscle in the wall is less responsive to high PO2 and less likely to constrict after birth; normal structure PDA Term: the wall is deficient in both the mucoid endothelial layer and the muscular media During

Patent Ductus Arteriosus Clinical Manifestations Bounding peripheral pulses and a wide pulse pressure, due to runoff of blood into the pulmonary artery during diastole Machinery like murmur Thrill, maximal in the 2nd left interspace with radiation toward the left clavicle, left sternal border and apex During

Patent Ductus Arteriosus Treatment Surgical or catheter closure During

Aorticopulmonary Window Defect Consists of a communication between the ascending aorta and the main pulmonary artery Unlike truncus arteriosus, there is presence of pulmonary and aortic valves and an intact ventricular septum Systolic murmur with an apical mid-diastolic rumble (due to increased blood flow across the mitral valve) Tx: surgical During

Coronary-Cameral Fistula A congenital fistula existing between a coronary artery and an atrium, ventricle or pulmonary artery Clinical signs may be similar to PDA but diffuse Diagnosis: doppler echocardiography and cardiac catheterization Treatment: small fistuals may close spontaneously, larger fistulas may require catheter intervention or surgical closure of the fistula During

Ruptured Sinus of Valsalva Aneurysm Happens when one of the valsalva of the aorta is weakened by congenital or acquired disease and ruptures in to the right atrium or ventricle Acute heart failure with new loud to and fro murmur Left to right shunt at the area of the atrium or ventricle Urgent surgical repair is required During

Acyanotic Heart Disease Increased Volume Load LVE VSD, PDA, AVSD RVE ASD, PAPVR Increased Pressure Load LVH Coarcation of the Aorta, Mitral regurgitation Aortic Stenosis RVH Pulmonary Stenosis, Mitral Stenosis

Increased Pressure Overload Cardiac output is maintained Increased wall thickness (hypertrophy)

Acyanotic Heart Diseases OBSTRUCTIVE LESIONS REGURGITANT LESIONS Pulmonary Stenosis Coarctation of the Aorta Pulmonary Venous Hypertension Pulmonar Valve Insufficiency Congenital Mitral Insufficiency Mitral Valve prolapse Tricuspid Regurgitation

Acyanotic Congenital Heart Disease: Obstructive Lesions

Pulmonary valve stenosis The valve cusps are deformed to various degrees thus the valve opens incompletely during systole May be severely fused or if not, may produce a dome like obstruction to right ventricular outflow tract during systole May be a result of valve dysplasia seen in Noonan syndrome May be also associated with Algallie syndromwe when the pulmonary stenosis is either of the valve or the branch pulmonary arteries

Pulmonary valve stenosis Severity depends on the size of the restricted valve openinng Severe: increased right pulmonary pressure Pulmonary artery pressure is normal Arterial oxygenation will be normal even in cases of severe stenosis except if with intracardial communication In neonates, decreased right ventricular compliance leads to cyanosis due to right to left shunting through a patent foramen ovale

Pulmonary valve stenosis Clinical Signs Mild: sharp pulmonic ejection click after the 1st heart sound and split 2nd heart sound Severe stenosis: The pulmonary component of the 2nd sound is inaudible; harsh systolic ejection murmur on the pulmonic area with radiation over the entire precordium, to both lung fields, neck and back Enlarged right ventricle and right atrium Prominence of the pulmonary artery segment due to post-stenotic dilatation

Pulmonary valve stenosis Tx: Initial treatment: Balloon valvuloplasty Surgical

Aortic Stenosis Valvular: the leaflets are thickened and the commisures are fused to varying degrees Subvalvular (subaortic): discrete fibromuscular shelf below the aortic valve Associated with mitral valve stenosis and coarctation of the aorta (Shone syndrome) Supravalvular aortic stenosis Least common; associated with Williams syndrome

Aortic Stenosis Clinical findings Early systolic ejection click, best heard at the apex and left sternal edge The click does not vary with respiration If severe, the 1st heart sound is diminished Paradoxical splitting of the 2nd heart sound

Aortic Stenosis Diagnosis Xray: Normal or prominent ascending aorta ECG: left ventricular hypertrophy 2D echo: left ventricular hypertrophy May shows the presence of the number of leaflets of the aortic valve and their morphology and other associated abnormalities In neonates with critical aortic stenosis, presence of endocardial fibroelastosis (bright in 2D echo, indicative of scarring of the endocardium)

Aortic Stenosis Treatment Balloon valvuloplasty: moderate to severe valvular aortic stenosis Ross procedure: aortopulmonary translocation

Coarctation of the Aorta Juxtaductal coarctation Most common Just below the left subclavian artery at the origin of the ductus arteriosus Turner’s syndrome Shone complex: when associated with mitral valve abnormalities and subaortic stenosis

Coarctation of the Aorta A tubular hypoplasia of the transverse aorta starting at one of the head or neck vesssels and extending to the ductal area (preductal or infantile type coarctation)

Coarctation of the Aorta Ascending aortic blood flows through the narrowed segment to reach the descending aorta First few days of life, PDA serve to widen the juxtaductal area and provide temporary relief from the obstruction  left to right shunting But if with severe juxtaductal obstruction and presence of transverse arch hypoplasia, right ventricular blood is ejected through the ductus to supply the descending aorta Perfusion of the lower part of the body is then dependent on the right ventricular output. Femoral pulses are palpable. The ductal right to left shunting as cyanotic. Upper extremities being pink and lower extremities blue

Coarctation of the Aorta Discrepancy in blood pressure and pulses of the amrs and legs Radial-femoral delay occurs when blood flow to the descending aorta is dependent on collaterals femoral pulse is felt after the radial pulse Ascending aortic blood flows through the narrowed segment to reach the descending aorta First few days of life, PDA serve to widen the juxtaductal area and provide temporary relief from the obstruction  left to right shunting But if with severe juxtaductal obstruction and presence of transverse arch hypoplasia, right ventricular blood is ejected through the ductus to supply the descending aorta Perfusion of the lower part of the body is then dependent on the right ventricular output. Femoral pulses are palpable. The ductal right to left shunting as cyanotic. Upper extremities being pink and lower extremities blue

Coarctation of the Aorta Notching of the inferior border of the ribs due to enlarged collateral vessels Other dx: 2D echo CT and MRI Cardiac Catheterization Ascending aortic blood flows through the narrowed segment to reach the descending aorta First few days of life, PDA serve to widen the juxtaductal area and provide temporary relief from the obstruction  left to right shunting But if with severe juxtaductal obstruction and presence of transverse arch hypoplasia, right ventricular blood is ejected through the ductus to supply the descending aorta Perfusion of the lower part of the body is then dependent on the right ventricular output. Femoral pulses are palpable. The ductal right to left shunting as cyanotic. Upper extremities being pink and lower extremities blue

Coarctation of the Aorta Tx: Prostaglandin E: to reopen the ductus and re- establish adequate lower extremity blood flow Surgical

Coarctation of the Aorta Tx: Prostaglandin E: to reopen the ductus and re- establish adequate lower extremity blood flow Surgical

Acyanotic Congenital Heart Disease: Regurgitant Lesions

Pulmonary valvular Insufficiency Usually rare Clinical signs Descrescendo diastolic murmur at the upper and midleft sternal border Dx: Chest Xray: Right ventricular enlargement and prominence of the main pulmonary artery 2D Echo

Mitral valve insufficiency Usually associated with other cardiac anomalies Isolated cases: mitral valve annulus is usually dilated, the chordae tendinae are short and may insert anomalously and the valve leaflets are deformed

Mitral valve insufficiency High-pitched apical holosystolic murmur If in severe cases: may be associated with mid- diastolic rumbling murmur Enlarged left atrium and Left ventricular hypertrophy Tx: mitral valvuloplasty

Mitral valve prolapse Caused by billowing of one or both mitral leaflets especially the posterior cusp, into the left atrium toward the end of systole Prolapse: defined by single or bileaflet prolapse of ≥2mm beyond the long axis of the annular plane with or without leaflet thickening Classic: >5mm valve thickening

Mitral valve prolapse Common in patients with Marfan syndrome, straight back sydrome, pectus excavatum, scoliosis, Ehlers-Danlos syndrome, Osteogenesis Imperfecta, and pseudoxanthoma elasticum

Mitral valve prolapse Apical murmur is late systolic and may be preceded by a click 2D echo: posterior movement of the posterior mitral leaflet during mid-or late systole or pansystolic prolapse of both the anterior and posterior leaflets

Tricuspid Regurgitation Isolated tricuspid regurgitation occurs with ebstein anomaly of the tricuspid valve This often accompanies right ventricular dysfunction May be related with perinatal aspyxia due to increased susceptibility of the papillary muscles to ischemic damage and subsequent transeint papillary muscle dysfunction