Congenital heart diseases (Cyanotic CHD)

A detailed discussion on embryogenesis of heart and ennumeration of all congenital diseases and description of cyanotic congenital heart disease , each disease in detail.

1. CONGENITAL HEART DISEASES (CYANOTIC) GUIDE – DR. L. S. PATIL PRESENTER – DR. DEEPAK R. CHINAGI BLDE UNIVERSITY'S SBMPMC , VIJAYAPURA 21-03-2017

2. 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

3. Embryology of the heart

4. Embryology of the heart Formation of cardiogenic area from angiogenic plexus Formation of endocardial tubes (heart tubes) Fusion of heart tubes cephalo caudally as the embryo bends forward Formation of cardiac loop ( bulbus cordis + truncus arteriosus ) Deepening of bulbo -ventricular groove

5. 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.

6. Gross classification of congenital heart disease Lesions without shunts Left 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

7. 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

8. 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

9. 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)

10. It may also be associated with other abnormalities like VSD and PDA S 1 = Normal, S 2 = 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

11. 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)

12. Jatene procedure

13. Mustard Senning procedure

14. 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 )

15. 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

16. Clinical features Cyanosis Systolic thrill and holosystolic murmur due to VSD ECG – Right axis deviation with counter-clockwise rotation(near V2)

17. 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

18. 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

19. 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

20. 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

21. 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

22. Natural history of TAPVC 50% infants dies by 6 months 80% infants die by 1 year Symptoms start appearing by 1 st month of life and progress rapidly in 6 months Smith’s classification Supradiaphragmatic Infradiaphragmatic

23. Darling’s classification Type Also known as Abnormal connection Type 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

24. ECG – is suggestive of RVH with right axis deviation CXR-PA – Snow man appearance or figure of eight appearance

25. 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

26. 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

27. 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

28. Clinical features- S 1 – Normal, S 2 – Single , loud S2 is present Ejection Systolic murmur at Left 3 rd and 4 th ICS Large VSD murmur less produced. ECG – Right axis deviation Large R wave in V 1 CXR-PA – “Boot shaped heart” or “ Couer en Sabot” Pulmonary Oligemia

29. Complications Infective Endocarditis Embolisation and Cerebral Abscess Pulmonary Tuberculosis Secondary Polycythemia CCF – rare Treatment of cyanotic spells – squating , oxygen, morphine, beta- blocker ( Propranolol )

30. 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)

31. 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.

32. Future scope SIGNALLING PATHWAYS ARE DISCOVERED AT EACH STEP OF CARDIAC EMBRYOGENESIS.

33. Thank You