Grown –Up Congenital Heart Disease (GUCH) Mohammad Saifur Rohman, MD. PhD Interventional Cardioloy Consultant Lab. Cardiology and Vascular Medicine Faculty of Medicine University of Brawijaya

Definition Adults with congenital heart defects are a group of patients which is fast growing in numbers, due to advances in cardiac surgery and intensive care in the 1970s and 80s. Congenital heart disease (CHD) : Cardiac lesions present from birth CHD in adult: Small defect, no correction, partial correction, post correction

Causes of congenital heart disease No one cause can explain all cases. Many factors : Genetic Environmental Affect cardiac development in the uterus;

Causes of congenital heart disease Maternal rubella- in addition to cataracts, deafness, and microcephaly, cause patent ductus arteriosus (PDA) and pulmonary stenosis Fetal alcohol syndrome- associated with cardiac defects (as well as microcephaly, micrognathia, microphthalmia, and growth retardation)

Causes of congenital heart disease Maternal systemic lupus erythematosus – associated with fetal complete heart block (due to transplacental passage of anti-Ro antibodies)

Genetic associations with congenital heart disease Trisomy 21- endocardial cushion defects, atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot. Turner’s syndrome (X0)- coarctation of the aorta Marfan syndrome- aortic dilatation and aortic and mitral regurgitation Kartagener’s syndrome- Brochiectasis,chronic sinusitis, situs inversus

Cardiac malformations Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Pulmonary stenosis – causes cyanosis if severe Coarctation of the aorta Aortic stenosis Tetralogy of Fallot – causes cyanosis Transposition of the great arteries – causes cyanosis Other causes of cyanotic congenital heart disease-pulmonary atresia, hypoplastic left heart, severe Ebstein’s anomaly with ASD

Classification of cyanotic congenital heart disease Classification of cyanoctic congenital heart disease by the amount of pulmonary blood flow seen on chest x ray. Increased Pulmonary Blood Flow Normal or Decreased Pulmonary Blood Flow Tricuspid atresia with large VSD Tricuspid atresia with restrictive VSD Total anomalous pulmonary venous return Pulmonary atresia with intact ventricular septum Truncus arteriosus Ebstein’s anomaly D-transposition of the great arteries D-transposition of the great arteries with pulmonary stenosis Taussig-Bing anomaly Double outlet right ventricle with pulmonary stenosis Tetralogy of Fallot with minimal right ventricular outflow tract obstruction Tetralogy of Fallot Tetralogy of Fallot with pulmonary atresia and increased collateral flow Tetralogy of Fallot wit pulmonary atresia Single ventricle without pulmonary stenosis Single ventricle with pulmonary stenosis Interrupted aortic arch with PDA Vena cava to left atrium communication Hypoplastic left heart syndrome ASD with Eisenmenger’s syndrome VSD with Eisenmenger’s syndrome PDA with Eisenmenger’s syndrome

Non Cyanotic Heart Disease 2 groups: Left to right shunting (Septa l defects) - PDA (Patent ductus Arteriosus) VSD (Ventricular septal defect) ASD (Atrial Septat defect) Obstruction lesion in left or right heart without shunt AS (Aortic stenosis) CoA (Coarctation of Aorta) PS (Pulmonary stenosis)

Chest X ray Blood flow to lung Acyanotic heart disease Normal Increased EKG LVH/BVH -VSD -PDA -AVSD RVH -PS -MS RVH -ASD -PAPVR -PVOD LVH -MI -AS -KoA Echocardiography, cardiac catheterization

Non cyanotic heart disease with left to right shunting Shunting via defect Overflow to pulmonary size - location of defect Pulmonary vascular resistance

Pulmonary Vascular resistance

Non Cyanotic Heart Disease Symptoms Pulmonary blood flow overload Depend on Pulmonary vascular resistance asymptomatic symptomatic Dyspnea Recurent respiratory infection Fail to thrive Heart failure

VENTRICULAR SEPTAL DEFECT asymptomatic Symptomatic

Clinical features Neonates: Adult: Small VSD: asymptomatic Large VSD  left ventricular failure : Failure to thrive, feeding difficulty, sweating on feeding Tachypnea and intercostal recession Hepatomegaly Adult: Asymptomatic Dyspnea due to PH or Eisenmenger syndrome

VSD Volume overload of LV Big left to right shunt Dilatation of LA, LV dan PA Congestive heart failure

VSD A. Small VSD B. Moderate VSD C. Big VSD : PVR < SVR Holosistolic murmur  Left to right shunt B. Moderate VSD Early diastolic murmur  Flow through mitral valve C. Big VSD : PVR < SVR Loud S2 (P2) Ejection systolic murmur  Flow through RV outflow tract D. VSD besar : PVR > SVR Load S2 (P2) No  Shunting (-)

VSD Pulmonary hypertension in adult Cardiomegaly LA and LV dilatation RV dilatation (PH) Increased pulmonary vascularization (pletora) Pulmonary hypertension in adult

Echocardiography

Echocardiography

Management 30% of cases close spontaneously, mostly by the time the child is 3 years of age. Some do not close until the child is 10 years old. Defects near the valve ring or near the outlet of the ventricle do not usually close

Management Operative closure is the treatment of choice and is recommended for all lesions that have not undergone spontaneous closure VSD  risk factor for infective endocarditis  appropriate prophyalctic measures should be taken

PDA In the fetus most of the output of the right ventricle bypasses the lungs via the ductus arteriosus This vessel joins the pulmonary trunk (artery) to the descending aorta distal to the left subclavian artery. The ductus arteriosus normally closes about 1 month after birth in full-term infants and takes longer to close in premature infants

PDA Pulmonary hypertension in adult Overload of LA and LV Big left to right shunting Dilatation LA, LV, AO and PA Congestive heart failure Pulmonary hypertension in adult

Clinical features The factors that determine the nature of clinical features are the same as in VSD and ASD i.e the size of the defect, the presence of PH, the development of Eisenmenger’s syndrome A patent PDA is more likely in babies born at high altitude, probably due to low atmospheric oxygen concentration; it may also occur In babies who have fetal rubella syndrome

History Small PDA: asymptomatic Large PDA: large left-to-right shunt  left ventricular failure with pulmonary edema causing failure to thrive and tachypnea Adults with undiagnosed PDA may develop PH and present with dyspnea

PDA Small PDA Big PDA – PH  Left to right shunt Continuous murmur – machinery murmur  Left to right shunting during systolic and diastolic Big PDA – PH pulsus celler S2 (P2) Loud Continuous murmur  Left to right shunt fase sistolik dan diastolik Systolic murmur fase sistolik Murmur (-) Early Diastolic murmur  Mitral flow

Management Pharmacological closure in neonates – indomethacin may induce closure if given early Operative closure – this can be performed as an open procedure in which the PDA is ligated or divided Or using ADO (Amplatzer ductal occluder) by cardiac catheter

PDA IN ADULTS SYMPTOMATIC Heart failure digitalis diuretika vasodilator PH – PVR ? LIGTION PDA ADO (BW> 8 kg)

Management PDA is a risk fractor for infective endocarditis  antibiotic prophylaxis is required for all patients before operative procedures.

ATRIAL SEPTAL DEFECT Shunting depend upon Defect size Compliant of RV < LV Left to right shunt

3 types of Atrial septal defect (1) Septum primum (ostium primum ASD)- this defect lies adjacent to atrioventricular valves, which are often also abnormal and incompetent (2) Septum secundum (ostium secundum ASD)- the most common form of ASD, it is midseptal in location

3 types of Atrial septal defect (3) Sinus venosus ASD – this lies high in the septum and may be associated with anomalous pulmonary venous drainage (in which one of the pulmonary veins drains into the right atrium instead of the left.

History Early life: asymptomatic Adult life: dyspnea, fatigue, recurrent chest infections As time goes by, the increased pulmonary blood flow results in pulmonary hypertension and eventually reversal of the shunt and Eisenmenger syndrome

ASD Volume overload in RV Dilatation of RA, RV and PA Pulmonary Hipertension  sindroma Eisenmenger

ASD S2 wide fixed splitting Sistolic ejection murmur pengosongan RV lama – katup pulmonal terlambat menutup tidak berubah dengan respirasi Sistolic ejection murmur Flow through RVOT and PA Diastolic murmur Flow through trikuspid valve

Examination The second heart sound is widely split because closure of the pulmonary valve is delayed due to increased pulmonary blood flow. The splitting is fixed in relation to respiration because the communication between the atria prevents the normal pressure differential between right and left sides that occurs during respiration.

Examination The increased pulmonary blood flow causes a mid systolic pulmonary flow murmur. If PH has developed  reduction of the left-to-right shunt, the pulmonary flow murmur disappears; there is a loud pulmonary component to the second heart sound If Eisenmenger’s syndrome occurs  centrally cyanosed, finger clubbing

Investigations EKG Chest radiography Ostium secundum ASD: right axis deviation Ostium primum defect: left axis deviation Chest radiography Pulmonary arteries: dilated, its branches are prominent Enlarged right atrium, enlarged right ventricle

ASD PH RA dilatation RV dilatation  prominent pulmonary segment Increased pulmonary vaskularisation (pletora) PH Wide of pulmonal and hilus Ischemic of peripheral pulmonary vascular (pruning)

Echocardiography

Echocardiography

Cardiac catheterization To reveal ASD, because the catheter can be passed across it. Serial oxygen saturation measurements are made at different levels from the superior vena through the atrium and the right ventricle into the pulmonary artery. At the level of the left-to-right shunt there will be a step up increase of the oxygen saturation as blod flow from the left side enters the right.

ASD ASD CLOSURE FR (Qp/Qs) > 1,5 SURGERY ASO (BW > 8 kg) ASYMPTOMATIC usia pra sekolah (3 – 4 tahun) SYMPTOMATIC HEART FAILURE digitalis diuretika vasodilator PH : PVR ?

Complications of congenital heart disease Cyanosis – the presence of more than 5g/dL of reduced hemoglobin in arterial blood Congestive heart failure – this occurs due to the inability of the heart to maintain sufficient tissue perfusion as a result of the cardiac lesion

Complications of congenital heart disease Pulmonary hypertension-this occurs as a result of an abnormal increase in pulmonary blood flow due to left-to-right shunt (e.g ASD, VSD, PDA) Infective endocarditis – congenital heart disease may result in lesions prone to bacterial colonization

Pulmonary Hypertension

Infective Endocarditis

Complications of congenital heart disease Heart failure Sudden death – this may be due to arrhythmias (more common in these disorders) or outflow obstruction as seen in aortic stenosis

Eisenmenger’s syndrome

Eisenmenger’s syndrome Refers to the situation in which a congenital cardiac abnormality initially causes acyanotic heart disease, but cyanotic heart disease develops as a consequence of raised pulmonary pressure and shunt reversal

Eisenmenger’s syndrome These clinical features are also seen in patients who have cyanotic congenital heart disease Cyanosis develops when the level of reduced hemoglobin is over 5 g/dL.

Complications of Eisenmenger’s syndrome Clubbing fingers and toes Polycythemia and hyperviscosity- with resulting complications of stroke and venous thrombosis. Regular phlebotomy is the treatment of choice Cerebral abscesses-especially in children Paradoxical emboli- emboli from venous thrombosis may pass across the shunt and give rise to systemic infarcts

Clubbing fingers and toes

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