Slide 1. Slide 2. Slide 3 CONGENITAL HEART DISEASE. Papworth Hospital NHS Trust INTRODUCTION. Jakub Kadlec/Catherine Sudarshan INTRODUCTION

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1 Slide 1 CONGENITAL HEART DISEASE Jakub Kadlec/Catherine Sudarshan NHS Trust Slide 2 INTRODUCTION Most common congenital illness in the newborn Affects about 4 9 / 1000 full-term live births in the UK 1.5 million new cases per annum world-wide No race or sex bias 1980s 60% mortality from CHD within first year of life Now expect >80% of CHD patients to survive into adulthood Slide 3 Majority are born at full term from normal pregnancies About 30% of them have extra-cardiac malformations No identifiable cause is evident in 90% of cases 5% of cases are secondary to chromosomal abnormality Increased risk (1-4%) of CHD in a sibling of affected infant Increased risk (4-5%) of CHD in a child of affected parent INTRODUCTION

2 Slide 4 SOME SYNDROMES ASSOCIATED WITH CHD Trisomy 13 Trisomy 18 Trisomy 21 (Down Syndrome) Turner Syndrome (XO) Congenital Rubella Marfan Syndrome Williams Syndrome DiGeorge Syndrome Holt-Oram Syndrome Asplenia Syndrome Polysplenia Syndrome ASD, VSD, PDA ASD, VSD, PDA Endocardial cushion defect Aortic coarctation, Aortic stenosis PDA, Pulmonary artery stenosis, MR Dilated and dissecting aorta, AR, MV prolapse Supravalvular aortic stenosis Aortic arch anomalies, TOF, Pulmonary atresia Truncus arteriosus, TGA ASD, VSD Complex cyanotic lesions, Anomalous pulmonary drainage, Dextrocardia, Univentricle Pulmonary atresia, Dextrocardia, Univentricle, Slide 5 BASIC EMBRYOLOGY Heart develops from paired mesodermal cardiogenic areas at days of gestation Blood circulates by the end of the 3 rd week Cardiogenic areas form endocardial heart tubes which migrate and fuse with the pericardial cavity in the midline These cells then develop into epi-, myo- and endocardium Tubular heart forms a series of dilated loops Aortic arches Truncus arteriosus Bulbus Cordis Ventricle Atrium Sinus venosus Slide 6 The bulbus cordis and ventricle grow faster so the tube bends upon itself, thereby bringing the atrium and sinus venosus behind the ventricle and truncus arteriosus By the 6 th week the septation of the atria, ventricles and atrioventricular canals is complete Sinus venosus forms the coronary sinus and is incorporated into the right atrium Pulmonary veins form part of the left atrium Blood flow from the ventricles leads to a spiral septation of the bulbus cordis and truncus arteriosus into the pulmonary artery and aorta

3 Slide 7 COMMON ACYANOTIC CONDITIONS Atrial Septal Defect (ASD) Ventricular Septal Defect (VSD) Atrio-ventricular Septal Defect (AVSD) Patent Ductus Arteriosus (PDA) Pulmonary stenosis Aortic stenosis Coarctation of the aorta Slide 8 COMMON CYANOTIC CONDITIONS Tetralogy Of Fallot Transposition of the great arteries (TGA) Tricuspid atresia Total anomalous pulmonary venous drainage (TAPVD) Truncus arteriosus The 5 T s Cyanosis is the presence of > 5g/dL of deoxygenated haemoglobin in arterial blood Slide 9 Atrial Septal Defect (ASD) Ventricular Septal Defect (VSD) 15 20% Atrio-ventricular Septal Defect (AVSD) Patent Ductus Arteriosus (PDA) Pulmonary stenosis Aortic stenosis Coarctation of the aorta Tetralogy Of Fallot Transposition of the great arteries (TGA) These account for 85% of all congenital heart defects.

4 Slide 10 COMMON CLINICAL PRESENTATIONS Cardiac murmur Congestive heart failure Tachycardia Heart Failure Difficulty feeding Dyspnoea Cyanotic spells Failure to thrive Slide 11 ATRIAL SEPTAL DEFECT Slide 12 ATRIAL SEPTAL DEFECT Patent foramen ovale (PFO) in 50% of 1-5 y age and in about 25% of adults over age 20y Ostium secundum defects account for 80% of ASD With haemodynamically significant lesions, the reduced pulmonary vascular resistance with age favours left to right shunt with increased pulmonary blood flow Increased PVR leads to right ventricular hypertrophy and subsequently to reversal of shunt resulting in cyanosis Present with respiratory infections, fatigue, dyspnoea, dysrhythmia, bacterial endocarditis or paradoxical emboli Systolic murmur. Possible incomplete RBBB on ECG. Cardiomegaly + increased pulmonary vascular markings on CXR. Echo is diagnostic. Percutaneous or surgical closure

5 Slide 13 VENTRICULAR SEPTAL DEFECT Slide 14 VENTRICULAR SEPTAL DEFECT Spontaneous closure in 50% within first 6 months Left to right shunting, pulmonary hypertension + CHF 50% have associated anomalies Heart failure, poor feeding, tachypnoea, poor growth Pansystolic murmur, hyperdynamic heart RVH and LVH on ECG. Cardiomegaly and increased pulmonary vascularity on CXR. Echo diagnostic. Surgical intervention for large VSDs with CHF <3 mo age. Elective repair of large VSD at 6-12 months. Presence of endocarditis, cardiomegaly, aortic incompetence, any non-muscular VSD Slide 15 ATRIOVENTRICULAR CANAL DEFECT

6 Slide 16 PATENT DUCTUS ARTERIOSUS Slide 17 PATENT DUCTUS ARTERIOSUS Accounts for 10% of all congenital heart defects. F:M = 2:1 Found just beyond left subclavian artery Normally ought to have closed within 2 4 weeks of birth Nearly 90% are closed at 8 weeks Presentations endocarditis, pulmonary congestion to oedema, heart failure, pulmonary infection Bounding peripheral pulses, hyperactive precordium, hepatomegaly, machinery murmur. LVH on ECG. Cardiomegaly and increased vascular markings on CXR. Echo is diagnostic. Attempt medical closure with Indomethacin Percutaneous occlusion or open surgical closure In neonatal CHD lesions with decreased blood flow to the lungs, it is important to palliate by keeping the duct open with prostaglandin infusion Slide 18 TETRALOGY OF FALLOT

7 Slide 19 TETRALOGY OF FALLOT VSD, Pulmonary stenosis, RVH and overriding aorta Right to left shunt and therefore babies are cyanotic Cyanotic spells as child gets older with increased oxygen requirements Polycythaemia, clubbing, poor growth Boot-shaped heart on CXR. RVH on ECG. Echo is diagnostic. 25% of untreated babies die in first year Ideally surgical repair between 3 24 months of age Younger babies may need to be palliated with a BT shunt Slide 20 TRANSPOSITION OF THE GREAT ARTERIES Slide 21 TRANSPOSITION OF GREAT ARTERIES Ventriculo-arterial discordance. Reversal of the great vessels Separate parallel circulations. Degree of cyanosis depends on mixing such that with a VSD present, there is less cyanosis Majority have an interatrial communication 90% will die in 1 st year if untreated Present with cyanosis, dyspnoea from birth with progressive hypoxia and CHF Medically support including prostaglandin infusion for ductal patency. Percutaneous interatrial septostomy may be necessary and this can palliate to age 9 mo. Definitive treatment if surgical correction with an arterial switch operation

8 Slide 22 TRICUSPID ATRESIA Slide 23 TRUNCUS ARTERIOSUS Slide 24 HYPOPLASTIC LEFT HEART SYNDROME

9 Slide 25 COARCTATION OF THE AORTA Slide 26 TREATMENT PALLIATIVE PROCEDURES Prostaglandin (PGE1) infusion Maintains Pulmonary blood flow via PDA Pulmonary atresia, tricuspid atresia, coarctation, interrupted aortic arch Percutaneous/Open valvotomy Increases valvular orifice area Pulmonary and aortic valve stenosis Percutaneous/Open Septostomy Better oxygenation via increased atrial mixing TGA. Tricuspid atresia Aorto-pulmonary shunts Improves pulmonary blood flow TOF, Pulmonary atresia, tricuspid atesia Pulmonary artery banding Decreases pulmonary blood flow VSD, AV canal defects, Univentricular pathology Slide 27 Finally, don t forget. Schooling Exercise capacity and limitations Effects on other siblings Domestic upheavals Long-tern medical follow-up Many require additional interventions including staged palliative surgical procedures Many are now living into adulthood with the consequence of an expanding Grown-Up Congenital Heart Disease (GUCH) population

10 Slide 28 A few facts/definitions Slide 29 How to calculate a shunt LA(=Aorta) - RA Aorta - PA Slide 30 A right to left shunt predisposes to paradoxical embolization eg stroke or brain abscess.

11 Slide 31 A shunt describes an abnormal route of blood flow from one part of the circulation to another, which do not normally communicate directly. Slide 32 Clubbing is associated with right to left shunt lesions and is thought to result from embolization of megakaryocytes from the bone marrow Slide 33 Intra-cardiac shunts, which normally produce turbulent blood flow, are prone to endocarditis and therefore need antibiotic cover, particularly during any invasive procedures.