BHARAT POKHREL, MD

CONGENITAL HEART DISEASES

OBJECTIVES TO DISCUSS ABOUT THE EMBRYOLOGIC ORIGIN

OF THE HEART TO DISCUSS ABOUT FETAL CIRCULATION TO DISCUSS ABOUT EPIDEMEOLOGY OF

CONGENITAL HEART DISEASES TO DISCUSS ABOUT DIFFERENT TYPES OF

CONGENTIAL HEART DISEASES (CYANOTIC AND ACYANOTIC)

FETAL VS ADULT CIRCULATION

FETAL ADULTSGAS EXCHANGE PLACENTA LUNGSRV, LV CIRCUIT PARALLEL SERIESPULMONARY CIRCULATION

VASOCONSTRICTED DILATED

STROKE VOLUME RV > LV INTRACARDIAC AND EXTRACARDIAC SHUNTS

RV= LVNO SHUNTS

CHANGES IN FETAL CIRCULATION AFTER BIRTH Gas exchange from placenta to lungs Interruption of umbilical cord

Increase SVR due to removal of placenta Closure of ductus venosus

Expansion of the lungs Decreased PVR, increase PBF, decrease PAP Functional closure of foramen ovale due to increase LAP; RAP

decreases after closure of ductus venosus PDA closes with increased O2 saturation

CONGENITAL HEART DISEASES GENERAL TERM USED TO DESCRIBE

ABNORMALITIES OF THE HEART OR GREAT VESSELS THAT ARE PRESENT FROM BIRTH.

EPIDEMIOLOGY WITH AN INCIDENCE OF APPROXIMATELY,

1% (4 TO 50 PER 1000 LIVE BIRTHS), CONGENITAL CARDIOVASCULAR DEFECTS ARE AMONG THE MOST PREVALENT AND THE MOST COMMON TYPE OF HEART DISEASES AMONG THE CHILDRENS.

ROBBINS AND COTRAN PATHOLOGIC BASIS OF DISEASE 8TH EDITION

INFANT MORTALITY: TEN (10) LEADING CAUSESNUMBER AND RATE/per 1000 live births AND PERCENTAGE DISTRIBUTION

Philippines, 2009Cause Number Rate Percent

1. Bacterial sepsis of newborn 3,082 1.8 14.22. Pneumonia 2,452 1.4 11.33. Respiratory distress of newborn 2,438 1.4 11.3

4. Disorders related to short gestation and low birth eight,  not elsewhere classified

1,609 0.9 7.4

5. Congenital malformations of the heart 1,523 0.9 7.0

6. Congenital pneumonia 1,052 0.6 4.97. Neonatal aspiration syndrome 1,038 0.6 4.8

8. Diarrhea and gastroenteritis of presumed infectious  origin

971 0.6 4.5

9. Other congenital malformations 940 0.5 4.3

10. Intrauterine hypoxia and birth asphyxia 883 0.5 4.1

ETIOLOGY Idiopathic (unknown) Genetic or chromosomal Environmental insults

Maternal infection Teratogenic drugs X-ray / irradiation Low O2 tension / chronic hypoxia

ROBBINS AND COTRAN PATHOLOGIC BASIS OF DISEASE 8TH EDITION

OXYGEN SATURATION AT DIFFERENT CHAMBERSBEFORE BIRTH AFTER BIRTH

TYPES OF CONGENITAL HEART DISEASE LEFT-RIGHT SHUNT (ACYANOTIC) RIGHT- LEFT SHUNT (CYANOTIC) OBSTRUCTIVE LESIONS

LEFT-RIGHT SHUNT (ACYANOTIC) RAISE BOTH FLOW VOLUMES AND

PRESSURES IN THE NORMALLY LOW PRESSURE, LOW RESISTANCE PULMONARY CIRCULATION

CAN LEAD TO RIGHT VENTRICULAR HYPERTROPHY AND ATHEROSCLEROSIS OF PULMONARY VASCULATURE

MOST COMMON TYPES OF L-R SHUNTS ATRIAL SEPTAL DEFECT (ASD) VENTRICULAR SEPTAL DEFECT (VSD) PATENT DUCTUS ARTERIOSUS (PDA) ATRIO-VENTRICULAR SEPTAL DEFECTS

(AVSD)

ATRIAL SEPTAL DEFECTS (ASD)

ATRIAL SEPTAL DEFECT (ASD) IS AN ABNORMAL, FIXED OPENING IN

ATRIAL SEPTUM CAUSED BY INCOMPLETE TISSUE FORMATION THAT ALLOWS COMMUNICATION OF BLOOD BETWEEN LEFT AND RIGHT ATRIA.

MORE COMMON IN FEMALES (2XMALES)

HARRISON’S MANUAL OF MEDICINE 18TH EDITION

MAGNITUDE OF THE L-R SHUNT DEPENDS ON THE ASD SIZE, VENTRICULAR DIASTOLIC PROPERTIES, AND THE RELATIVE IMPEDANCE IN THE PULMONARY AND SYSTEMIC CIRCULATIONS.

L-R SHUNT CAUSES DIASTOLIC OVERLOADING OF THE RV AND INCREASED PULMONARY BLOOD FLOW.

HARRISON’S MANUAL OF MEDICINE 18TH EDITION

TYPES OF ASD (AS PER LOCATION) SECUNDUM (90%) PRIMUM (5%) SINUS VENOSUS

(5%)

CLINICAL FEATURES DYSPNEA EASY FATIGABILITY PALPITATIONS SUSTAINED ATRIAL ARRYTHMIA SYNCOPE STROKE AND HEART FAILURE

FINDINGS PE

SOFT SYSTOLIC MURMUR, FIXED SPLIT S2 ECG

NORMAL TO RAD IRBBB PATTERN; RVH

CXR MILD RV CARDIOMEGALY HYPERVASCULAR MARKINGS

MANAGEMENT IF WITH APPROPRIATE SIZE AND SHAPE –

SURGICAL REPAIR WITH PATCH OF PERICARDIUM/ PROSTHETICS OR PERCUTANEOUS TRANSCATHETER DEVICE CLOSURE.

CLOSURE NOT CARRIED OUT IN PATIENTS WITH SMALL DEFECTS OR WITH SEVERE PULMONARY VASCULAR DISEASE WITHOUT SIGNIFICANT L-R SHUNT.

MANAGEMENT MEDICAL MANAGEMENT SHOULD INCLUDE

PROMPT TREATMENT OF RESPIRATORY TRACT INFECTIONS

ANTIARRHYTHMIC MEDICATIONS FOR ATRIAL FIBRILLATION OR SUPRAVENTRICULAR TACHYCARDIA

AND THE USUAL MEASURES FOR HYPERTENSION, CORONARY DISEASE, OR HEART FAILURE

HARRISON’S MANUAL OF MEDICINE 18TH EDITION

VENTRICULAR SEPTAL DEFECT (VSD)

VSD 20 – 25% OF CHD MANIFESTATIONS

ASYMPTOMATIC TO CHF DEPENDS

SIZE PULMONARY VASCULAR RESISTANCE LOCATION: INLET, PERIMEMBRANOUS, SUBARTERIAL,

MUSCULAR HEMODYNAMICS: LV VOLUME OVERLOAD

CLINICAL HISTORY SMALL VSD

NORMAL GROWTH & DEVELOPMENT NO CHF

MOD. TO LARGE VSD EASY FATIGABILITY DELAYED GROWTH & DEVELOPMENT REPEATED RESPIRATORY TRACT INFECTION CHF

PHYSICAL EXAMINATION LOW BODY WEIGHT SIGNS OF CHF – LARGE VSD DYNAMIC & BULGING PRECORDIUM SYSTOLIC THRILL PANSYSTOLIC MURMUR AT LPSB

NATURAL HISTORY SMALLER; SPONTANEOUS CLOSURE IN 40 –

50% USUALLY 1ST YEAR OF LIFE ASYMPTOMATIC TO CHF PHTN, PVOD, EISENMENGERIZATION INFECTIVE ENDOCARDITIS DEVELOPMENT OF INFUNDIBULAR PS OR

AORTIC REGURGITATION

MANAGEMENT MEDICAL

DRUGS – DIURETICS; INOTROPES; ANTIBIOTIC PROPHYLAXIS

SUPPORTIVE – NUTRITIONAL INTERVENTIONAL CATHETERIZATION SURGICAL

PALLIATIVE – PA BANDING CORRECTIVE – VSD CLOSURE

Congenital Heart DiseasePatent Ductus Arteriosus

PDA ABNORMAL COMMUNICATION BETWEEN

DESCENDING AORTA AND PULMONARY ARTERY.

ASSOCIATED WITH BIRTH AT HIGH ALTITUDE AND MATERNAL RUBELLA INFECTION.

PATENT DUCTUS ARTERIOSUS 10% OF CHD 50% OF PREMATURE; MOST WILL CLOSE ASSOCIATED WITH CONGENITAL

RUBELLA MANIFESTATIONS: ASYMPTOMATIC TO

CHF – DEPENDING ON SIZE & PVR HEMODYNAMICS: LV VOLUME OVERLOAD

PDA: PHYSICAL EXAMINATION WIDE PULSE PRESSURE DYNAMIC PRECORDIUM; THRILL CONTINUOUS (MACHINERY) MURMUR SOFT TO INCREASED P2 BOUNDING PULSES

PDA ECG

NORMAL LVH, CVH OR RVH

CXR NORMAL CARDIOMEGALY (LV, CV OR RV) DILATED MPA; HYPERVASCULAR MARKINGS DILATED AORTA

NATURAL HISTORY SPONTANEOUS CLOSURE ASYMPTOMATIC OR FATIGUE AND

DYSPNEA ON EXERTION PHTN, PVOD, EISENMENGERIZATION INFECTIVE ENDARTERITIS

MANAGEMENT MEDICAL

INDOMETHACIN DRUGS: DIURETICS; INOTROPES; ANTIBIOTIC

PROPHYLAXIS INTERVENTIONAL CATHETERIZATION

COIL OR DEVICE CLOSURE SURGICAL

LIGATION TRANSECTION

Congenital Heart DiseasePatent Ductus Arteriosus: Management

Interventional catheterization

PROGRESSION TO PULMONARY HYPERTENSION UNCORRECTED L-R SHUNT MAY

DEVELOP PROGRESSIVE, IRREVERSIBLE PULMONARY HYPERTENSION WITH REVERSE SHUNTING OF DESATURATED BLOOD INTO ARTERIAL CIRCULATION (R-L DIRECTION) RESULTING IN EISENMENGER SYNDROME

FATIGUE, LIGHTHEADEDNESS AND CHEST PAIN DUE TO RV ISCHEMIA

CYANOSIS, CLUBBING OF DIGITS, LOUD P2 MURMUR OF PULMONARY VALVE REGURGITATION AND SIGNS OF RV FAILURE

MANAGEMENT PULMONARY ARTERY VASODILATORS LUNG TRANSPLANT WITH REPAIR OF

CARDIAC DEFECT HEART-LUNG TRANSPLANTATION

OBSTRUCTIVE LESIONS

Congenital Heart DiseasePulmonary Stenosis 5 – 8% OF CHD ASSOCIATED WITH CONGENITAL RUBELLA;

NOONAN & WILLIAM SYNDROME TYPES: VALVAR, SUBVALVAR (INFUNDIBULAR),

SUPRAVALVAR OR PERIPHERAL MANIFESTATIONS: ASYMPTOMATIC UNLESS

SEVERE

Congenital Heart DiseasePulmonary Stenosis HEMODYNAMICS: RV PRESSURE

OVERLOAD PHYSICAL EXAMINATION

JUGULAR VENOUS DISTENSION WITH PROMINENT a WAVE

SYSTOLIC THRILL SYSTOLIC MURMUR LUSB TO BACK; SOFT P2

Congenital Heart DiseasePulmonary Stenosis ECG

NORMAL IN MILD PS RA AND RV ENLARGEMENT IN ADVANCED PS

CXR NORMAL OR RV CARDIOMEGALY NORMAL OR DILATED MPA (POST-STENOTIC

DILATATION)

Congenital Heart DiseasePulmonary Stenosis: Natural History ASYMPTOMATIC; PROGRESSION

UNLIKELY EASY FATIGABILITY & CHF IF SEVERE CHEST PAIN, SYNCOPE, SUDDEN DEATH ARRHYTHMIAS INFECTIVE ENDOCARDITIS

Congenital Heart DiseasePulmonary Stenosis: Management INTERVENTIONAL CATHETERIZATION

BALLOON VALVULOPLASTY SURGICAL

VALVOTOMY (BROCK’S PROCEDURE)

COARCTION OF AORTA CONGENITAL CONDITION WHEREBY THE AORTA

IS NARROW, USUALLY IN THE AREA WHERE THE DUCTUS ARTERIOSUS (LIGAMENTUM ARTERIOSUM AFTER REGRESSION) INSERTS.

USUALLY ASYMPTOMATIC BUT MAY CAUSE HEADACHE, FATIGUE, CLAUDICATION OF LOWER EXTREMITIES.

PHYSICAL EXAMINATION HYPERTENSION IN UPPER EXTREMITIES,

DELAYED FEMORAL PULSE, DECREASED PRESSURE IN LOWER EXTREMITIES

SYSTOLIC MURMUR HEARD OVER MID UPPER BACK AT LEFT INTERSCAPULAR SPACE

ECG – LV HYPERTROPHY CXR- NOTHING OF THE RIBS DUE TO

COLLATERAL ARTERIES, APPEAREANCE OF DISTAL AORTIC ARCH

Congenital Heart DiseaseCoarctation of the Aorta: Repair

Cyanotic Congenital Heart Disease TRUNCUS ARTERIOSUS TRANSPOSITION OF GREAT VESSELS TRICUSPID ATRESIA TETRALOGY OF FALLOT TOTAL ANOMALOUS PULMONARY

VENOUS RETURN

TRUNCUS ARTERIOSUS

TRUNCUS ARTERIOSUS FAILURE OF TRUNCUS ARTERIOSUS TO

DIVIDE INTO PULMONARY TRUNK AND AORTA

DEOXYGENATED BLOOD FROM RV MIXED WITH OXYGENATED BLOOD FROM LV, GOING TO THE SYSTEMIC CIRCULATION.

TRANSPOSITION OF GREAT ARTERIES

CYANOTIC CONGENITAL HEART DISEASE TRANSPOSITION OF GREAT ARTERIES 5% OF CHD FAILURE OF AORTICPULMONARY SEPTUM TO

DEVELOP NORMALLY LV PUMP OXYGENATED BLOOD INTO PULMONARY

TRUNK INSTEAD OF SYSTEMIC CIRCULATION RV PUMP DEOXYGENATED BLOOD INTO AORTA THERE IS NO MIXING OF BLOOD AND HAS 2

CLOSED LOOP CIRCULATION

Cyanotic Congenital Heart Disease Transposition of Great Arteries PHYSICAL EXAMINATION

CYANOTIC SIGNS OF CHF SINGLE LOUD S2; SOFT SYSTOLIC MURMUR

ECG RVH, RIGHT AXIS DEVIATION, RIGHT ATRIAL ENLARGEMENT

CXR EGG ON STRING APPEAREANCE RV CARDIOMEGALY; HYPERVASCULAR MARKINGS

Cyanotic Congenital Heart Disease TGA: Natural History EARLY AND PROGRESSIVE CYANOSIS DEATH IF NO SHUNT OR INTERVENTION SURVIVE IF (+) VSD OR PS POLYCYTHEMIA CHF: PULMONARY CONGESTION AND RV

FAILURE INFECTIVE ENDOCARDITIS

TGA: Management Palliative

PROSTAGLANDIN INFUSION- TO MAINTAIN DUCTAL PATENCY CREATE INTERATRIAL COMMUNICATION

BALLOON ATRIAL SEPTOSTOMY (BAS) – RASHKIND PROCEDURE BLADE SEPTOSTOMY ATRIAL SEPTOSTOMY – BLALOCK-HANLON PROCEDURE

DEFINITIVE ATRIAL SWITCH – SENNING OR MUSTARD PROCEDURE ARTERIAL SWITCH – JATENE PROCEDURE

TRICUSPID ATRESIA

TRICUSPID ATRESIA FAILURE OF DEVELOPMENT OF

TRICUSPID VALVE NO OPENING FROM RA TO RV SHUNTS (ASD AND VSD) ARE NEEDED

TO BE COMPATIBLE FOR LIFE

EBSTEIN’S ANOMALY

EBSTEIN ANOMALY ASSOCIATED WITH MATERNAL LITHIUM

USE TRICUSPID LEAFLETS ARE DISPLACED

INFERIORLY ON RIGHT VENTRICLE CAUSES HYPOPLASTIC RIGHT VENTRICLE LEADS TO TRICUSPID REGURGITATION

Cyanotic Congenital Heart DiseaseTetralogy of Fallot

MALFORMATIONS PULMONARY VALVE

STENOSIS RIGHT VENTRICULAR

HYPERTROPHY VENTRICULAR

SEPTAL DEFECT OVERRIDING AORTA

Cyanotic Congenital Heart DiseaseTetralogy of Fallot Physical Examination

Systolic ejection murmur Cyanotic; clubbing of digits

ECG – RAD; RVH CXR

Boot shaped heart RV cardiomegaly Small MPA; hypovascular markings

MANAGEMENT MEDICAL

PREVENT FE DEFICIENCY PHLEBOTOMY PROPRANOLOL FOR HYPOXIC SPELLS

SURGICAL PALLIATIVE – SHUNTS (BTS, CENTRAL) DEFINITIVE – VSD CLOSURE;

INFUNDIBULECTOMY; TRANSANNULAR PATCHING

TOTAL ANOMALOUS PULMONARY VENOUS RETURN

VERY RARE CYANOTIC HEART DISEASE PULMONARY VEINS DRAIN INTO SYSTEMIC

CIRCULATION OXYGENATED BLOOD INSTEAD OF COMING TO

LA, GOES TO SVC OR CORONARY SINUS OR RA. COMPLETELY CLOSED LOOP NO BLOOD GOING FROM LV TO AORTA

REFERENCES: HARRISON’S MANUAL OF MEDICINE 18TH

EDITION ROBBINS AND COTRAN PATHOLOGIC BASIS

OF DISEASE 8TH EDITION CINCINNATI CHILDREN’S HOSPITAL MEDICAL

CENTER, OHIO – VIDEO SOURCE DOCTORS IN TRAINING- VIDEO SOURCE