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![Aetiology
• Genetic
– Trisomies 13, 18, 21[Down;s syn]AVD,VSD,ASD,TOF)
– Monosomy X (Turner’s syndrome): Coarctation of aorta
– 22q11 microDeletion (DiGeorge syndrome): Conotruncal
abnormalities
– Single gene defects (Noonan’sPS,Marfan synd AR,MR, Holt-
Oram, Ellis-van Crevald, Alagille)
• Maternal disorders
– Rubella PS,PDA
– SLE
– GDM HOCM,VSD
– Fetal alcohol syndrome
• Drugs:
– Warfarin,Lithium,Phenytoin,Na valproate,Retinoic acid](https://image.slidesharecdn.com/introductiontocongenitalheartdisease-121028013957-phpapp02/75/Introduction-to-congenital-heart-disease-3-2048.jpg)
Uploaded byBalasingam Balagobi
Introduction to congenital heart disease
Right ventricular hypertrophy is a characteristic feature of tricuspid atresia.
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Introduction to congenital heart disease
- 1. INTRODUCTION TO CONGENITAL HEART DISEASE. Dr.B.BALAGOBI
- 2. Epidemiology • Prevalence:0.5-0.8% oflive births (8/1000). • Leading structural malformation in infants. • Etiology: – Unknown – multifactorial inheritance • Genetic(Chromosomal/Single gene) • Teratogen(Maternal diseaes/Drugs) • 10-15% have extracardiac anomalies(VACTERL) • Gender differences:ASD,VSD,PDA & Pulmonic stenosis more common in girls,left sided lesions in boys.
- 3. Aetiology • Genetic – Trisomies 13, 18, 21[Down;s syn]AVD,VSD,ASD,TOF) – Monosomy X (Turner’s syndrome): Coarctation of aorta – 22q11 microDeletion (DiGeorge syndrome): Conotruncal abnormalities – Single gene defects (Noonan’sPS,Marfan synd AR,MR, Holt- Oram, Ellis-van Crevald, Alagille) • Maternal disorders – Rubella PS,PDA – SLE – GDM HOCM,VSD – Fetal alcohol syndrome • Drugs: – Warfarin,Lithium,Phenytoin,Na valproate,Retinoic acid
- 4.
- 7. FETAL CIRCULATION-EMBRYOLOGY • Fromplacenta via umbilical vein • Blood by pass liver via Ductus venosus to IVC • Mix with blood from lower limb • This blood enters RA,Pressure in RA>LA • Major part of this blood pass via Foramen ovalae to the LA • Mix with desaturated blood from lungs at LA then enters to LV to Aorta • Coronary & carotid are the first branches – Well oxygenated blood
- 8. FETAL CIRCULATION • Desaturatedblood from SVC flow to RA to RV to pulmonary trunk. • Major part of its blood pass directly through Ductus arteriosus in to desending aorta. • Then blood goes to placenta via umbilical Artery.
- 9. CHANGES AT BIRTH •At birth first breathresistance to pulmonary blood flow decrease rise in LA pressure • Placenta removal reduce venous return to RA reduce RA pressure Foramen ovale closed • Closure of – Umbilical artery – Umbilical vein – Ductus venosus – Ductus arteriosus – Foramen ovale
- 11. ACYANOTIC HEART DISEASE • VSD:Commonest congenital heart disease • PDA • PS • ASD • Coarcation of aorta • AS • AVD
- 12. CYANOTIC DISEASE • TOF(Tetralogy of fallot) • TGV(Transposition of great vessels) • Tricuspid atresia • Truncus arteriosus • Total anomalous of pulmonary venous drainage • Hypoplastic left heart syndrome • Pulmonary atresia • Ebstein anomaly
- 13. Congenial Heart Diseasedivisons • Congenital Heart Lesions that INCREASE Pulmonary Arterial Blood Flow Plethoric lung Recurrent Chest infection. – Atrial Septal Defect – Ventricular Septal Defect – Patent Ductus Arteriosis – Complete Atrioventricular Canal – Total Anomalous Pulmonary Venous Connection – Truncus Arteriosus – Transposition of the Great Arteries • Obstructive Congenital Heart Lesions – Pulmonary Stenosis – Aortic Stenosis – Coarctation of the Aorta • Congenital Heart Lesions that DECREASE Pulmonary Arterial Blood Flow – Tetralogy of Fallot – Tricuspid Atresia – Ebstein’s Anomaly
- 14. PATHOPHYSIOLOGY • VSD,PDA Leftto right shunt(increased pulmonary blood flow-No cyanosis)Load on left ventricle LVHCardiomegaly(Precordial bulge) Secondary Pulmonary hypertension(Loud P2,Parasternal heave)RVH Reversal of shunt Cyanosis(Eisenmenger syndrome) • But ASD first cause RVHso parasternal heave does not indicates Pulmonary hypertension.
- 15. CVS Examination • Pulse,JVP,BP – Rate(upper limit 160- 100,rhythum, volume(small:AS,bounding:anaemia,AR,PDA) • Inspection:precordial bulge,Scar,visible pulsation • Palpation:Apex,thrill,heave • Auscultation – Heart sounds S1,S2,S3(Normal in young children) – Split of S2 – Murmur(Timing,duration,loudness,radiation • hepatomegaly
- 16. PRESENTATIONS OF CHD • Antenatal cardiac USS • Detection of murmur • Cyanosis • Respiratory distress • Heart failure • Shock
- 17. Heart murmurs • Ejectionsystolic murmur – Ventricular outflow narrowing(AS,PS),ASD – May be normal • Pan systolic murmur – VSD,MR,TR • Continuous murmur – PDA – Venous hum(due to turbulent flow in head & neck veins,disaapears in lying down) • Hall marks of innocent murmurs – Systolic murmur,localised to left sternal edge,no diastolic component,no radiation,no thrill,no added sound,No symptoms • There may absence of murmur in severe CHD like PDA,large VSD
- 18. Innocent/functional murmurs • soft • Systolic • No diastolic component • Confined to small area,left sternal edge • No parasternal thrill • No radiation • Normal heart sounds • No added sound • Asymptomatic patient
- 19. HEART FAILURE • Symptoms – Breathlessness(Esp @ feeding/exertion) – Sweating – Poor feeding – Recurrent RTI Harrison’s sulcus • Signs – FTT,Tachypnoea,Tachycardia – Heart murmur,Gallop rhythum – Cardiomegaly,Hepatomegaly – Cool peripheries – Precordial bulge
- 21. T/F Circulatory changesthat occur at birth include? A. Rise in left atrial pressure B. Drop in the pulmonary vascular resistance C. Rise in the volume of blood returning to the right atrium D. Closure of the foramen ovale E. Closure of the ductus arteriosus
- 22. T/F In fetalcirculation? A. Umbilical vein carries oxygenated blood B. Blood flow from left to right through foramen ovale C. Pulmonary arterial pressure is high D. Oxygen saturation in right atrium is more than left atrium E. Coronary arteries origin from the pulmonary artery
- 23. T/F Features offunctional murmur? A. Usually systolic B. Associated with thrill C. Common at left parasternal edge D. Incidence more common in 1 year than 10 year E. Radiates to axilla
- 24. T/F Right ventricularhypertrophy? A. Is a feature of Transposition of great vessels B. Is a feature of tetralogy of fallot C. Is a characteristic feature of tricuspid atresia D. In ASD indicates pulmonary hypertension E. Cause tall R wave in V1 ECG lead.