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
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 forward
4. Formation of cardiac loop (bulbus cordis +
truncus arteriosus)
5. 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)

12. • 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

13. • 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)

14. Jatene procedure

15. Mustard Senning procedure

16. 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)

18. • 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

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

21. 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

23. – 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

24. • 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

26. 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

28. • 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

29. • 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

30. • 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

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

32. 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

33. 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

35. • 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

36. • 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

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

39. • 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)

40. 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.

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

43. Thank You