CONGENITAL HEART DİSEASES DR DEFNE ÇÖL YEDİTEPE UNIVERSITY DEPARTMENT OF CHİLD HEALTH AND DİSEASES.

Fetal Circulation Fetal circulation differs from adult circulation in several ways. Almost all differences are attributable to the fundamental difference in the site of gas exchange. In the adult, gas exchange occurs in the lungs. In the fetus, the placenta provides the exchange of gases and nutrients.

CONGENİTAL HEART DİSEASE(CHD) Anatomic>abnormal function Acquired Disease process Infection Autoimmune response Environmental factors Familial tendencies

Chromosomal/genetic = 10%-12% Maternal or environmental = 1%-2% Maternal drug use Fetal alcohol syndrome—50% have CHD Maternal illness Rubella in 1st 7 wks of pregnancy→50% risk of defects including PDA and pulmonary branch stenosis CMV, toxoplasmosis, other viral illnesses>> cardiac defects IDMs = 10% risk of CHD (VSD, cardiomyopathy, TGA most common) Multifactorial = 85%

Incidence: 5-8 per 1000 live births About 2-3 of these are symptomatic in first year of life Major cause of death in first year of life (after prematurity) Most common anomaly is VSD 28% of kids with CHD have another recognized anomaly (trisomy 21, 13, 18, +++ )

Alagille snydrome Williams snydrome Trisomi 18 Trisomi 13

Pediatric Indicators of Cardiac Dysfunction Poor feeding Tachypnea/ tachycardia Failure to thrive/poor weight gain/activity intolerance Developmental delays + Prenatal history + Family history of cardiac disease

Older Classifications of CHD Acyanotic May become cyanotic Cyanotic May be pink May develop CHF

Newer Classification of CHD Hemodynamic characteristics Increased pulmonary blood flow Decreased pulmonary blood flow Obstruction of blood flow out of the heart Mixed blood flow

Increased Pulmonary Blood Flow Defects Atrial septal defect Ventricular septal defect Patent ductus arteriosus

Atrial Septal Defect İncidence: 5-10% Pathology:Classified according to location of defect: Secundum atrial septal defect: Sinus venosus atrial defect: Primum atrial septal defect:

Clinical Manifestations Small and moderate size atrial septal defects are typically asymptomatic. Larger defects result in pulmonary edema manifesting as easy fatigability and shortness of breath. Only very large defects result in significant congestive heart failure. On examination:there is a hyperactive precordium with a prominent right ventricular impulse due to right ventricular dilation. Auscultation reveals a prominent first heart sound. Second heart splitting is fixed throughout respiration due to increased blood flow through the pulmonary valve causing delay in pulmonary valve closure regardless of respiratory cycle. A systolic ejection (crescen-decrescendo) murmur is heard at the left upper sternal border due to increase in blood flow across the pulmonary valve.

Diagnosis X-Ray:Prominent pulmonary vasculature due to left to right shunting is present.In addition, increase in blood flow through the right heart will cause right atrial and right ventricular dilation manifesting as cardiomegaly on chest X-ray. Electrocardiograph:Right atrial and right ventricular dilation/hypertrophy may be noted. Right atrial enlargement manifests as tall P waves Echocardiography:The atrial septal defect is seen by 2D echocardiography.The right atrium and ventricle will appear dilated.

EKG X_Ray

Treatment Closure of atrial septal defect is determined by the type of the defect and its size. Small (less than 5 mm in diameter) and medium (5–8 mm in diameter)-sized secundum defects diagnosed during early infancy tend to close spontaneously, often in the first 2 years of life. Sinus venosus and primum atrial septal defects do not close spontaneously and will require surgical repair which could be performed around 1 year of age.

Ventricular Septal Defect İncidence:20-25% Ventricular septal defect is the most common cardiac defect. Membranous ventricular septal defect is the most common type (70%). The efect occurs in the membranous septum and involves some of the surrounding tissue. Inlet (AV canal type) ventricular septal defect accounts for 5–8% of all ventricular septal defects. Muscular ventricular septal defect accounts for 5–20% of all ventricular septal defects. It is located in the muscular septum. Outlet (infundibular, conal, and supracristal) ventricular septal defect account for 5–7% of all types of defects. The defect is located inthe outlet septum, beneath both semilunar (pulmonary and aortic) valves.

Pathophysiology In small ventricular septal defects the defect is restrictive and the amount of shunting will be hemodynamically insignificant. If the defect is large there will be significant shunting to the right side depending primarily on the difference between the systemic and pulmonary vascular resistance , this will cause dilatation. of the pulmonary arteries, left atrium, and left ventricle. The excessive shunting will also cause increase in pulmonary blood flow and congestive heart failure secondary to volume overload.

Clinical Manifestations:Most infants with small ventricular septal defects are asymptomatic. Presentation is typically secondary to a heart murmur on physical examination. In moderate to large ventricular septal defect, the infants present with symptoms secondary to increased pulmonary blood flow (pulmonary edema) and decrease in cardiac output such as tachypnea, increased respiratory effort, recurrent pulmonary infections, poor feeding, diaphoresis,easy fatigability, and failure to thrive. Older patients may present with heart failure, hemoptysis, arrhythmia, cyanosis, or bacterial endocarditis. Ventricular septal defect murmurs may be 2–5/6 in intensity and harsh in quality,it is best heard over the left lower sternal border.

Chest Radiography:The chest X-ray is normal in small ventricular septal defects. In moderate and large ventricular septal defects there is usually cardiac enlargement with increased pulmonary vascular markings. Electrocardiography:Left atrial dilatation and left ventricular hypertrophy may be seen in moderate ventricular septal defect. With a large defect, the ECG shows biventricular hypertrophy. Echocardiography:The echocardiogram is the gold standard tool to diagnose ventricular septal defect. It can identify the size, location, and number of ventricular septal defects.

a 3-month-old infant with a large ventricular septal defect, patent ductus arteriosus, and pulmonary hypertension. The tracing shows combined ventricular hypertrophy with left dominance. Note that V2 and V4 are in ½ standardization.

Patent Ductus Arteriosus The incidence of PDA is inversely related to gestational age in premature infants(5-10%) In normal newborns, the ductus is mostly closed by the second or third day of life and is fully sealed by 2–3 weeks of life. With the baby’s first few breaths, the oxygen tension rises. the pulmonary vascular resistance begins to drop. If the ductus arteriosus fails to close, there will be shunting of blood from the high pressure aorta to the pulmonary circulation.

Clinical Manifestations If the PDA is small, patients are typically asymptomatic. A large PDA will allow a significant volume of left to right shunting. The resulting pulmonary edema can manifest clinically as tachypnea, poor feeding, failure to thrive, recurrent respiratory infections, or congestive heart failure. Murmur of a PDA is a continuous machinery murmur and is heard best in the left infraclavicular region.

Electrocardiography: Electrocardiogram is usually normal with a small PDA. Left atrial and ventricular hypertrophy may be present in older patients with a moderate sized PDA Biventricular hypertrophy is present in patients with a large PDA. Echocardiography: Echocardiography is the procedure of choice to confirm the diagnosis Management indomethacin and ibuprofen have been used for their antagonizing effects on prostaglandins. interventional cardiac catheterization

Obstructive Defects Coarctation of the aorta Aortic stenosis Pulmonic stenosis

Coarctation of the Aorta

İncidence:8-10% ,M/F : 2/1 Higher blood pressure in upper extremities when compared to blood pressure in lower extremities is diagnostic of coarctation of the aorta. Increased afterload results in left ventricular hypertrophy. Coarctation of the aorta may present in childhood or adulthood with systemic hypertension, usually resistant to medications.

Rib notching (arrows) in an 11-year-old girl with coarctation of the aorta. The figure-of-3 configuration indicates the site of coarctation with the large proximal segment of aorta and/or prominent left subclavian artery above and the poststenotic dilatation of the descending aorta below it. B, Barium esophagogram reveals the E-shaped indentation or reversed figure-of-3 configuration

Aortic Stenosis Anatomic types of aortic stenosis. A, Normal. B, Valvular stenosis. C, Supravalvular stenosis. D, Discrete subaortic stenosis. E, Idiopathic hypertrophic subaortic stenosis Occurring in approximately 10% of cases of congenital heart disease, aortic stenosis refers to obstruction to outflow from the left ventricle due to narrowing at above, below, or at the level of the aortic valve. Narrowing at the aortic valve (valvular aortic stenosis) accounts for 71% of cases of aortic stenosis.

Clinical Manifestations: The left ventricle gradually hypertrophies in order to accommodate the increased force necessary for aortic valve opening. As hypertrophy eventually gives way to left ventricular failure, the left ventricle and left atrium dilate and changes related to increased left ventricular end-diastolic pressure and left atrial hypertension occur. Patients present with symptoms of syncope, chest pain, and dyspnea, typically with exertion. Newborn children with critical aortic stenosis present in shock-like state within the first hours to 1 month of life as ductal closure leads to reduced antegrade flow blood flow across the aortic valve.

Pulmonary Stenosis As an isolated lesion, valvular pulmonary stenosis is the second most common CHD (8% of all CHDs). Pulmonary stenosis at some level,whethervalvular(90%),subvalvular,or supravalvular, occurs in 30–50% of other congenital heart diseases. Pulmonary stenosis occurs more frequently in females. Supravalvular pulmonary stenosis also occurs as a result of intrauterine (congenital) rubella infection.

Clinical Manifestations: right ventricle is hypertrophie Clinical Manifestations: right ventricle is hypertrophie. Moderate to severe pulmonary artery stenosis may result in fatigue and reduced exercise tolerance. Moderate valvular stenosis is often well tolerated in children, but produces clinical symptoms with advancing age. Severe valvular stenosis can lead to exercise-related chest pain, syncope, or sudden death.

Decreased Pulmonary Blood Flow Defects Tetralogy of Fallot. Pulmonary Atresia with Intact Ventricular Septum. Tricuspid Atresia.

Tetralogy of Fallot Tetralogy of Fallot is the most common cyanotic congenital heart disease(10%) As the name implies, there are four basic components that make up TOF : 1. A large ventricular septal defect (VSD) 2. Pulmonary stenosis (PS) 3. An overriding aorta 4. Right ventricular hypertrophy (RVH)

TOF is well tolerated in utero TOF is well tolerated in utero. Once born, newborn children are frequently asymptomatic and often do not exhibit cyanosis. Infants and children with unrepaired TOF are at risk for episodes of severe cyanosis known as hypercyanotic spells, commonly referred to as “tet spells.” These episodes rarely occur in children less than 9–12 months of age In the hospital setting, treatment of hypercyanotic spells should start with attempts to reduce any cause of anxiety to the child. Allow the child’s mother to hold him or her in a knee-to-chest position to increase systemic vascular resistance.

Chest X-Ray:The apex can seem to be upturned due to RVH resulting in the classically described “coeur en sabot” or boot-shaped heart. Treatment:In the modern era of congenital heart surgery, with patients being successfully operated on at smaller weights and younger ages with excellent results, it is now often possible for patients to undergo complete anatomic repair as their initial operation. Complete repair of TOF can be safely performed at 4–6 months of age.

Transposition of the Great Arteries Transposition of the great arteries is a cyanotic congenital heart diseases where the great arteries (pulmonary artery and aorta) are connected to the wrong ventricle.

Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart disease where blood from all four pulmonary veins returns anomalously to the right atrium instead of the left atrium.

Truncus Arteriosus Truncus arteriosus is a cyanotic congenital heart disease. In this lesion, there is only one (truncus) artery receiving blood ejected from both ventricles. The truncus then continue as the aortic arch and providing pulmonary arteries.

Ebstein’s Anomaly Ebstein’s anomaly is a congenital heart disease affecting the tricuspid valve. In its milder form, the tricuspid valve is mildly displaced towards the apex with mild regurgitation and no stenosis. tricuspid valve leaflets results in severe tricuspid valve regurgitation and lack of forward flow of blood in the right ventricularoutflow tract due to obstruction by the abnormal tricuspid valve.

Hypoplastic Left Heart Syndrome The mitral valve is severely stenotic or atretic leading to small or hypoplastic left ventricle and severely stenotic or hypoplastic aortic valve. Neonates survive this anomaly in the first few days of life due to the presence of a patent foramen ovale (PFO) and ductus arteriosus (PDA) Cardiogenic shock develops as soon as the PDA starts to close depriving cardiac output to the systemic circulation.