CONGENITAL HEART DISEASES(CYANOTIC)

GUIDE – DR. L. S. PATILPRESENTER – DR. DEEPAK R. CHINAGI

BLDE UNIVERSITY'S SBMPMC , VIJAYAPURA 21-03-2017

Topics will be dealt as follows

• Embryology of the heart• Gross Classification of congenital heart disease

with special emphasis on non shunt lesions and shunt lesions

• Description about cyanotic congenital heart disease, each disease in particular

Embryology of the heart

Embryology of the heart

1. Formation of cardiogenic area from angiogenic plexus

2. Formation of endocardial tubes (heart tubes)3. Fusion of heart tubes cephalo caudally as the

embryo bends forward4. Formation of cardiac loop (bulbus cordis +

truncus arteriosus)5. Deepening of bulbo-ventricular groove

6. Formation of inter-ventricular septum,7. Formation of interatrial septum (septum

primum, foramen primum, septum secundum and foramen secundum)

8. Division of truncus arteriosus with aorticopulmonary septum. In 180 degree rotation.

Gross classification of congenital heart disease

• Lesions without shuntsLeft heart malformations Right heart malformations

Mitral stenosis Ebsteins anomaly

Mitral valve prolapse Pulmonic stenosis

Double orifice mitral valve Pulmonary regurgitation

Parachute mitral valve Idiopathic dilatation of pulmonary valve

Aortic stenosis (supravalvular, valvular, subvalvular)

Pulmonary artery branch stenosis

Aortic regurgitation

Coarctation of aorta

• Lesions with left to right shunts (Acyanotic)Atrial level Ventricular level Others

ASD (ostium primum, ostium secundum, sinus venosus type)

VSD Coronary AV fistula

ASD with acquired mitral stenosis

VSD with aortic regurgitation

PDA

Partial anomalous pulmonary venous connection

VSD causing LV > RA shunting, Gerbode defect

Anomalous origin of left coronary artery from pulmonary artery

• Lesions with right to left shunts (Cyanotic) discussed in detail

With increased pulmonary blood flow

With normal or decreased pulmonary blood flow

Complete transposition of great arteries

Tetralogy of Fallot

Double outlet Right Ventricle Tricuspid Atresia

Truncus Arteriosus Ebsteins Anomaly with R>L atrial shunt (ASD)

Total Anomalous Pulmonary Venous Connection

Pulmonary Atresia with intact ventricular septum

Eisenmengers syndrome (VSD) Pulmonary AV fistula

Complete transposition of great arteries (D-transposition)

• Here the aorta arises from morphologic right ventricle and lies anterior to the pulmonary artery, which originates from morphologic left ventricle.

• Not compatible with life; however, this abnormality may survive with the simulataneous prescence of an interatrial communication (foramen ovale or ASD)

• It is common in male babies. (esp. with diabetic mother)

• It may also be associated with other abnormalities like VSD and PDA

• S1 = Normal, S2 = single aortic component heard. Associated with holosystolic murmur of VSD, continuous murmur of PDA or ejection systolic murmur of Pulmonic stenosis

• ECG – suggests right ventricular hypertrophy• CXR-PA – “Egg on Stalk” OR “Egg shaped heart”

appearance

• Treatment – – Primary – surgical – Supportive treatment – • PGE1 infusion to keep PDA open• Balloon atrial septostomy to keep ASD open

• Surgical procedures-– Arterial Switch operation (Jatene procedure)– Atrial Switch operation (Mustard / Senning

procedure)

Jatene procedure

Mustard Senning procedure

Double Outlet Right Ventricle(DORV)

• In this type of cono-truncal anomaly, both the great vessels arise from right ventricle. It is associated with VSD(Subaortic or subpulmonic)

• In DORV with subaortic VSD, oxygenated blood passes LV and flows through VSD across RV into aorta

• IN DORV with Subpulmonic VSD, blood from LV flows to pulmonary artery and blood from RA to RV flows to aorta(Taussig – Bing anomaly)

• Associated anomalies– Trisomy 13, trisomy 18, Coarctation of aorta, right

sided aortic arch, TAPVC/PAPVC, tracheo-esophageal fistula, dextrocardia

• Natural history of DORV with subaortic VSD resembles that of VSD, and Natural history of Subpulmonic VSD resmebles that of TGA

• Clinical features– Cyanosis– Systolic thrill and holosystolic murmur due to VSD

• ECG – Right axis deviation with counter-clockwise rotation(near V2)

Truncus Arteriosus

• It is and uncommon congenital anomaly with single vessel forming outflow tract for both ventricle, due to failure of development of aortico-pulmonary septum. It is always associated with large supracristal VSD.

• An interesting note- truncus valve is usually tricuspid occasionally quadricuspid

• Three types (Collette – Edward Classification)– Type 1 – a short single segment of pulonary artery arises

from truncus and later divides into right and left pulmonary artery

– Type 2 – Right and left pulmonary arteries arise sepeartely from posterior wall of truncus

– Type 3 – right and left pulmonary arteries arise seperately from lateral wall of truncus

• Associated anomalies– Di-George Syndrome

• Clinical Features– Normal S1, Loud S2 without splitting– Ejection Systolic murmur heard

• ECG – features suggestive of LV volume overload + RV pressure overload

• CXR-PA – Cardiomegaly + Pulmonary Plethora (Clincally Cyanosis) : suggestive of truncus arteriosus

• Natural History – – mean age of death – 5 weeks– Only 15%survive till one year, severe pulmonary

hypertension develops after 1 year of life• Ideal age for corrective surgery 3 to 6 months

Total Anomalous Pulmonary Venous Connection

• Pulmonary veins normally drain into left atrium, but in patients with TAPVC, pulmonary veins may connect to systemic veins within the thorax(supradiaphragmatic) or portal vein in the abdomen(infradiaphragmatic). Thereby draining oxygenated blood into right atrium.

• Associated anomalies– Common atrium– Single ventricle– PDA– Pulmonary valve stenosis– Truncus Arteriosus

• Clinical Features– Cyanosis– Continuous murmur along left sternal borderdue

to flow through anomalous pulmonary venous channels

– Loud P2 and development of pulmonary hypertension gradually

– The intensity of continuous murmur decreases as the pulmonary hypertension progresses

• Natural history of TAPVC– 50% infants dies by 6 months– 80% infants die by 1 year– Symptoms start appearing by 1st month of life and

progress rapidly in 6 months• Smith’s classification– Supradiaphragmatic– Infradiaphragmatic

• Darling’s classificationType Also known as Abnormal

connectionType 1 Supracardiac PV join SVC

Type 2 Cardiac PV join RA

Type 3 Infracardiac PV joins IVC or below

Type 4 Mixed Rare , multiple connections

• ECG – is suggestive of RVH with right axis deviation

• CXR-PA – – Snow man appearance or figure of eight

appearance

Eisenmengers syndrome (VSD)

• It is the condition in which L>R shunt get reversed (R>L shunt) with the development of pulmonary hypertension, central cyanosis, clubbing, secondary polycythemia.

• Symptoms of poor exercise tolerance and rarely hemoptysis may occur. Generalised cyanosis, Loud and palpable P2, prominent parasternal heave may appear

Tetralogy of Fallot

• It is the most common congenital cyanotic heart disease.

• It has 4 components– Large VSD– RV outflow obstruction (Pulmonic stenosis –

infundibular type)– Overriding of aorta– Right ventricular hypertrophy

• Variability of RV outflow tract obstruction and systemic-pulmonary pressure difference contributes to occurrence of episodic cyanosis in TOF.

• Presence of ASD = Pentology of Fallot• Pulmonic Stenosis + RV hypertrophy + ASD

with R>L shunt = Triology of Fallot

• Clinical features-– S1 – Normal, S2 – Single , loud S2 is present– Ejection Systolic murmur at Left 3rd and 4th ICS– Large VSD murmur less produced.

• ECG – – Right axis deviation– Large R wave in V1

• CXR-PA – – “Boot shaped heart” or “Couer en Sabot”– Pulmonary Oligemia

• Complications– Infective Endocarditis– Embolisation and Cerebral Abscess– Pulmonary Tuberculosis– Secondary Polycythemia– CCF – rare

• Treatment of cyanotic spells – squating, oxygen, morphine, beta- blocker (Propranolol)

• Surgical procedure– Blalock – Taussig Shunt(left pulmonary artery to

left subclavian artery)– Pott’s procedure(left pulmonary artery to anterior

wall of descending aorta)– Waterston procedure(right pulmonary artery to

ascending aorta)

Tricuspid Atresia

• In this condition triscuspid valve is absent, the floor of RA is intact. It is always accompanied by VSD

• Blood flows from RA to LA across interatrial septum and later into LV and then to RV across VSD and then into Pulmonary artery

• Clinical Features-– Cyanosis , JVP a wave prominent, first and second heart

sounds may be single, Systolic murmur due to VSD.

Future scopeSIGNALLING PATHWAYS ARE DISCOVERED AT EACH STEP OF CARDIAC EMBRYOGENESIS.

Thank You