Congenital Cardiovascular Anomalies

Dr. Kalpana Malla

MBBS MD (Pediatrics) Manipal Teaching Hospital

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Contents
General concepts of congenital heart diseases. Atrial Septal Defect. Ventricular Septal Defect.

Incidence:
~1% in the general population (6-8 per 1000 live births) Incidence in stillborns (3-4%), aborted fetus (1025%), premature infants (2%) Diagnosis made in 40-50% by one week of age, in 50-60% by 1 mo of age

Incidence
Recurrence risk - if h/o one affected sibling VSD, PDA 3% TOF, ASD 2.5% Tricuspid atresia, Ebstein anomaly 1%

Relative frequencies of major CHD:

Lesions % of all lesions VSD 25-30 ASD 6-8 PDA 6-8 Coarctation of Aorta 5-7 TOF 5-10 Pulmonary valve stenosis 5-7 Aortic valve stenosis 4-7

Relative frequencies of major CHD

Lesions % of all lesions TGA 3-5 Hypoplastic left heart 1-3 Truncus Arteriosus, TAPVR, Tricuspid atresia, Single ventricle, Double outlet rt ventricle 1-2  Others 5-10

Etiology 1.Genetic
Inheritance- Dominant pattern ASD, supravalvular aortic stenosis, cardiomyopathy Osteogenesis Imperfecta: Aortic regurgitatio Marfan Syndrome:
Aortic dilatation, aortic & mitral incompetence

CHD with chromosomal abnormalities

5 % associated with Chromosomal anomalies: Trisomy 13, 18 (>90%), 21 (50%) 18 Trisomy - VSD, PDA, DORV 13 Trisomy - Dextocardia,VSD, PDA 21 Trisomy Downs syndrome - A-V canal defect, VSD

CHD with chromosomal abnormalities

Turner s syndrome (40%) - Coarctation of aorta, aortic stenosis Deletion chromosome 22q11: Di George syn Familial cardiomyopathies: HCM, DCM

Etiology: 2.Gender Factors

Occur equally among males and females, but More common in males: aortic stenosis, coarctation of the aorta More common in females: PDA, ASD

Etiology: 3. Environmental
High altitude Maternal Ds a) Diabetes: TGA ,VSD, situs inversus, single ventricle, hypoplastic left ventricle b) SLE: Congenital heart block

3. Environmental Factors
3. Maternal Infections:

Rubella: PDA, pulmonary stenosis, VSD, ASD Mumps: Endocardial Fibroelastosis 4. Maternal Drugs: Lithium: Tricuspid valve abnormalities, Ebstein s Anomaly Thalidomide Alcohol abuse: VSD - warfarin, anticonvulsants, antimetabolites , Phenytoin : Variable

Classification of congenital heart disease:

1. Acyanotic

2. Cyanotic lesions

Acyanotic

volume load

pressure load

-L R shunts

obstr. ventric. outflow

-ASD - Pulmonary valve stenosis -VSD - AV canal - Aortic valve stenosis -Patent ductus arterisus - Coarctation of aorta

Cyanotic

pulmonary flow

pulmonary flow

TGA TOF Single ventricle Pulmonary atresia Truncus arteriosus Tricuspid atresia TAPVR w/o obstruction TAPVR with obstruction

Characteristics of patients with L R shunts:

Absence of cyanosis Frequent chest infections -Due to decreased lung compliance which leads to frequent respiratory tract infections Precordial bulge Excessive sweating - Tendency for CCF

Characteristics of patients with L R shunts:

Failure to thrive - due to poor oxygen saturation in the growing tissues, persistent heart failure, and frequent respiratory infections with undernutrition Cardiomegaly Shunt & flow murmurs Plethoric lung fields

Characteristics of patients with obstructive lesions:

Absence of cyanosis or frequent chest infections Normal precordial shape Forcible/heaving cardiac impulse, without cardiomegaly Delayed S2

Obstructive lesions (contd)

Ejection systolic murmur, with thrill Absence of diastolic murmurs Normal sized heart with normal pulmonary vascularity Ventricular hypertrophy on ECG Chest pain- severe aortic stenosis lead to myocardial ischemia

Characteristics of cyanotic patients:

Cyanosis- Occurs under following circumstances 1. Reduced pulmonary blood flow in defects with right ventricular outflow tract obstruction 2. R L as in tetralogy of Fallot 3. Discordant ventriculoarterial connections TGA 4. Mixing of venous and arterial blood truncus arteriosus or single ventricle

Characteristics of cyanotic patients:

Hypercyanotic Spells Fallot's tetralogy and defects with Fallot's physiology **Due to pulmonary infundibular stenosis

Characteristics of cyanotic patients:

Clubbing Polycythemia Murmurs FTT

 Heart Failure occurs in following situations : Volume overload- all defects with L R shunt like VSD,ASD,PDA Pressure overload - in pulmonary and aortic valve stenosis Intrinsic myocardial diseases -cardiomyopathies, Decreased or increased diastolic fillings tachyarrhythmias and bradyarrhythmias.

Investigations:
1. Chest X-ray: shape & size of heart, vascularity, pulmonary edema, lung & thoracic anomalies 2. ECG: Hypertrophy 3. Hematology: anemia (? Physiological, iron deficiency), polycythemia

Investigations
5. Echocardiography/Doppler Echo: intracardiac anatomy of all structural defects , hemodynamic data regarding pressure gradients across valves, cardiac contractility, flow, vegetations

Investigations
6.Cardiac catheterisation: calculates 02 saturation, shunt volumes, pressures, etc Indications Preoperative identification of the lesions Peroperative physiological assessment of pulmonary artery pressure and press gradient

Cardiac Catheterization
Therapeutic interventional procedures 1.Baloon dilatation of stenotic valve and coarctation of aorta 2. Blade and baloon atrial septoplasty 3. Non- surgical closure of PDA ,ASD 4.Catheter ablation of arrythmogenic focus by pacemaker implantation

Investigations (contd):
7. Exercise testing 8. MRI 9. Angiocardiography 10.Interventional catheterisation

Management:
1. 2. 3. 4. 5. Early identification of problem Supportive management: Treatment of heart failure Prevent frequent RTIs Maintain required weight , Hb Infective endocarditis prophylaxis Regular follow-ups Surgical management

Atrial Septal Defect

Defect in atrial septum 6-8 % of all CHDs Male : female ratio is 1:2

ASD - classification
Three major types
Ostium secundum most common- 50-70%, In the middle of the septum in the region of the foramen ovale Ostium primum -30% Low position Form of AV septal defect

ASD - classification
Sinus venosus Least common-10% Site-at entry of superior venacava into right atrium

Mitral valve prolapse associated in ~20% with ostium secundum or sinus venosus defect

Hemodynamics
L pR shunt at minor pressure differencesilent Rt atrium receive blood from SVC,IVC + left atrium p rt atrium enlarges in size ppasses through normal sized tricuspid valve pdelayed diastolic murmur at lower left sternal border prt.ventricle also enlarges pnormal pulmonary valve ppulmonary ejection systolic murmur, prolonged ejection phase of rt ventricle P2 delayed

Hemodynamics
S2 normally is single in expiration ( both component is superimposed on each other) & split in inspiration( A2 component slightly early P2 component is delayed) In ASD-S2 is widely split and fixed- as rt ventricle fully loaded further increase in rt ventricular volume during inspiration cannot occur

Clinical manifestations:

Usually asymptomatic Mild effort intolerance, frequent chest infections may be + CCF - rare

Physical examination
Slender built Parasternal impulse + Systolic thrill 2nd Lt. interspace 10%

Auscultation
S1 :normal or accentuated due to loud tricuspid component S2: Widely split & fixed S2 with P2 accentuated Murmur Shunt murmur absent Flow murmurs 1. Pulmonary ejection systolic grade 23/6 at 2nd and 3rd lt interspace-widey transmitted all over chest 2. tricuspid delayed diastolic at lt lower sternal border

ASD

Investigations:
1. CXR- mild to moderate cardiomegaly with enlarged right atrium & right ventricle, prominent pulmonary artery segment, increased pulmonary vascular markings 2. ECG- RAD, RVH or RBBB with rsR pattern in V1 LAD - suggest O. primum defect 3. Echo- position, size, signs of L R shunt, flow

Natural history:
Spontaneous closure in ~87% of ostium secundum defects

1. ASD <3 mm size, diagnosed before 3 months of age, spontaneous closure in 100% by 1.5 years of age 2. ASD 3-8 mm size, spontaneous closure in 80% by 1.5 years of age 3. ASD > 8mm rarely closes spontaneously

Natural history:
Mostly asymptomatic and active CHF & pulmonary HTN develop in untreated cases in their 20s to 30s Atrial arrhythmias may occur in adulthood Infective endocarditis rarely occurs, with isolated ASDs

Management:
Medical: for CHF, chest infections non-surgical closure-Clamshell device, Sideris button device, Angel Wings, etc Surgical closure: delayed till 3-4 years of age Indications: L R shunt Qp/Qs ratio:>1.5:1

VSD

Communication b/t two ventricles

VSD
May occur alone or with other abnormalities About one-third of small VSDs close spontaneously

Ventricular Septal Defect

Commonest acyanotic CHD (~25%) Associated with-Down Syndrome Fetal hydantoin syndrome Fetal alcohol syndrome Trisomy 13, 18 Apert syndrome

Anatomy
Compartments of ventricular septum: - Membranous septum - Inlet septum - Trabecular septum - Outlet or infundibular septum Defects result from a deficiency of growth or failure of alignment or fusion of component parts

Classification-pathology
1.Membranous VSD- (perimembranous, paramembranous , conoventricular, infracristal, subaortic) Most common (90%) 2.Muscular VSD- (Swiss cheese ,inlet, trabecular, central, apical, marginal ,or outlet types) 3. Supracristal VSD- (subpulmonary, outlet, infundibular, or conoseptal. subarterial defect) Least common

Hemodynamics:
L R shunt in ventricles occur with high pressure gradient throughout systole pansystolic murmur Blood to normal pulmonary valve ejection systolic murmur Large vol of blood to lungs pul plethora Blood to left atrium Lt. atrial enlrgement Blood to normal mitral valve delayed diastolic murmur at apex

Hemodynamics
Lt ventricles to outlets empties relatively early early A2 Rt ventricle & pul artery increased ejection time delayed P2-S2 widely split &variable

Hemodynamics
Depends on: a) size of the shunt b) PVR Based on size of VSD: - Restrictive VSD(<0.5 cm2 ) - Moderately restrictive VSD - Non-restrictive (>1 cm2 )

Restrictive VSD
Small, hemodynamically insignificant Size <0.5 cm2 Between 80% and 85% of all VSDs All close spontanously 50% by 2 years 90% by 6 years 10% during school years Muscular close sooner than membranous

A moderately restrictive VSD

Size -> 0.5 cm2 (>5mm) in diameter Moderate shunt (Qp:Qs = 1.5-2.5:1.0) May lead to left atrial and LV dilation and dysfunction, as well as a variable increase in pulmonary vascular resistance

Large nonrestrictive VSDs

Large VSDs with normal PVR Usually >1.0 (>10 mm) in diameter Usually requires surgery Will develop CHF and FTT by age 3-6 months

PVR (Pulmonary vascular R)

At birth - PVR is higher than normal so pul arterial pressure is equal to systemic pressure the L R shunt is limited no clinical symptoms First few weeks of life (normal involution of the media of small pulmonary arterioles) fall in PVR L R shunt increases and clinical symptoms become apparent

 In some with a large VSD -pulm arteriolar medial thickness never decreases so, continued exposure of the pulmonary vascular bed to high systolic pressure high flow pulm vascular obstructive disease develops When the ratio of pulm to systemic resistance is 1:1, the shunt becomes bidirectional and the patient becomes cyanotic (Eisenmenger physiology).

Clinical Manifestations:
1. Small VSD: asymptomatic, normal growth 2. Moderate to large: repeated chest infections, Effort intolerance ,fatigue , failure to thrive, pulmonary HTN 3. If unoperated: Pulmonary HTN, cyanosis and decreased level of activity

Physical examination
1. Small VSD: well developed, acyanotic 2. Moderate VSD: forceful LV impulse , prominent systolic thrill along the lower left sternal border

Physical examination
Large VSD: tachypneic, repeated chest infections, poor weight gain, CHF dyspnea, feeding difficulties, poor growth, profuse perspiration, recurrent pulmonary infections, and cardiac failure in early infancy. Reversal of shunt: cyanosis, clubbing, respiratory distress.

Auscultation
Heart sounds S1 : masked by pansystolic murmur S2: masked but can be heard at 2nd lt ICS widely split and variable, with accentuated P2 - single and loud (PAH) S3: maybe audible at the apex

Murmurs
Shunt - loud, harsh, or blowing pansystolic murmur grade 3-5/6 best heard at left 3rd & 4th interspaces is widely transmitted over the precordium at lower LSB Flow Pulmonary : ejection murmur (drowned) Mitral : rumbling delayed diastolic murmur at the cardiac apex, indicates a Qp:Qs of 2:1 or greater

Fairly large perimembranous VSD in

Chest radiography
Small VSDs -N Medium- VSDs -minimal cardiomegaly and a borderline increase in pulmonary vasculature Large VSDs gross cardiomegaly . The pulmonary vascular markings are increased and frank pulmonary edema (Plethoric) if pul arterial HTN Oligemic lung fields in reversal of shunt, pul stenosis

Electrocardiography
Depends on shunt size & degree of pulmonary hypertension Small VSDs - N tracing Medium VSDs broad, notched P wave ( left atrial overload), LVH Large VSDs RVH with right-axis deviation. With further progression - biventricular hypertrophy; P waves may be notched or peaked RVH in Eisenmenger s complex

Echocardiography
Echo - Number, position & size of defect, chamber size Two-dimensional echo site, size of defect ,pul. stenosis or pul HTN

General principles, techniques, and goals

Small VSDs reassurance. Surgical repair is currently not recommended Protection against IE - antibiotic prophylaxis for dental visits, tonsillectomy, adenoidectomy, and other oropharyngeal surgical procedures , instrumentation of the genitourinary and lower intestinal tracts

Management:
Large VSDs Medical:

Treatment of chest infection Control of heart failure Infective endocarditis prophylaxis Dental hygiene Frequent feeding of high calorie formula, correction of anemia Non-surgical closure with umbrella device

Surgical
Repair of defect under open heart surgery Clamshell-type catheter occlusion -closing apical muscular VSDs. Transcatheter device closure - trabecular (muscular) and perimembranous VSDs

Indications of surgery:
Large defects- if CHF not responding to medical management (within first 6 months of life) After 1 year of age, significant L R shunt, Qp: Qs ratio at least 2:1 without pul HTN Supracristal VSD of any size because of the high risk of aortic valve regurgitation

Contraindication of surgery
1. Severe pulmonary vascular disease 2.Muscular septum VSDs , particularly apical defects and multiple (Swiss cheese type)

Outcomes
Excellent, and complications (eg, residual ventricular shunts) are rare. Post surgery - size of the heart decreases to normal , thrills and murmurs abolished, and pulmonary artery hypertension Catch-up growth-over the next 1-2 years In some cases- systolic ejection murmurs of low intensity may persist for months.

Natural history
Depends on the size of the defect Small VSD Spontaneous closure( 30-50%) during 1st yr of life (membranous & muscular defects) Small muscular VSDs are more likely to close 80% than membranous VSDs 35% The vast majority 45% close by age 4 years

Natural history
Spontaneous closure has been reported in adults Spontaneous closure of a perimembranous VSD (from tricuspid leaflet tissue apposition) or of a small muscular VSD during adulthood is uncommon (<10%)

Mod to Large VSDs

Less commonly close spontaneously CHF develops in large VSDs after 8 weeks of age Repeated chest infection ,FTT IE independent of VSD size rare in < 2yrs .risk is 2% above 2 yrs

Natural History:
Pulmonary hypertension pulmonary vascular disease (Eisenmenger syndrome Aortic valve regurgitation - the greatest risk supracristal VSD

Thank you
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