1. Congenital heart disease
in adults

3. Basics
 Affects ~1% of all live births
 Causes- identified in ~10%
 Genetic- trisomy 21, 13, 18; Turner-XO
 Environmental- rubella, alcohol, phenytoin, Li, thalidomide, SLE
 s/s-
 Cyanosis, growth retardation, recurrent RTI, DOE
 Murmurs, heart failure, syncope/arrythmia
 Associated disorders- V-LATER
 Vertebral, Limbs, Anal atresia, TOF, Esophageal atresia, Renal

4. Classification
 Acyanotic-
 LR shunt-
ASD
VSD
PDA-
rubella
 Obstructive-
AS-
William’s
 Cyanotic-
 RL shunt-
Eisenmenger
syndrome
 Increased pulmonary
blood flow-
Complete TGA
TAPVC
 Decreased pulmonary
blood flow-
Tricuspid
atresia
Ebstein anomaly
Tetralogy of Fallot

5. Atrial septal defect- ASD
 Ostium primum- common with Down’s,
Ostium secundum-
commonest, Sinus
venosus
 Asymptomatic early; later DOE, PHT, CHF
 Cyanosis, polycythemia & clubbing
develop with reversal of shunt
 Signs-
 LPSH due to RVH
 Palpable P2, fixed wide-split S2
 ESM-PV/MDM-TV due to increased flow
 ± murmur of MR/TR- common with OP defect

6. ASD- contd.
 ECG- RV/RA hypertrophy,
OS-RAD; OP-LAD, prolonged
PR
 CxR- enlarged RA/RV, dilated PA,
prominent pulmonary vascular markings
 ECHO- confirm & associated defects
 Rx-
 Repair of defect- operative or percutaneous
 Rx of RTI, arrythmia, CHF- as required

7. Ventricular septal defect- VSD
 Commonest CHD
 Defect in membranous part of septum
 Pansystolic murmur- L 3rd
/4th
ICS
large defect-more symptoms, small
defect-more signs
 ECHO & angiography- to plan management
 Rx- surgical correction- in patients with
pulmonary:systemic blood flow > 1.5-2.0:1.0, with
normal pulmonary artery pressure

8. Patent ductus arteriosus- PDA
 Ductus arteriosus, in fetus, connects
pulmonary artery to aorta; just distal to L
subclavian artery
 Normally closes soon after birth
 Continuous murmur, at L upper sternal edge
 Reversal of shunt causes differential
cyanosis & clubbing of toes, sparing fingers
 ECHO ± angiography- for evaluation
 Rx- percutaneous or surgical correction

9. Eisenmenger syndrome
 Reversal of shunt i.e. RL shunt, due
to pulmonary hypertension
 Seen with ASD, VSD, PDA
 Results in cyanosis & clubbing
 Rx- supportive only, as the disease is
self-perpetuating & progressive
 Prevention-
correction of RL shunt, in time

10. Aortic stenosis
 Valvular, supravalvular, subvalvular
 May be a complication of bicuspid AoV
 Causes syncope, angina, DOE
 LVH, ESM with radiation to carotids
 ECG- s/o LVH
 ECHO, + angiography if suspected
CAD
 Rx- surgical correction

11. Coarctation of aorta
 Narrowing of aorta,
most commonly distal to L subclavian artery
 Associated bicuspid AV & cerebral aneurysms
 Causes claudication distally & HT proximally,
collaterals seen/felt
 Unequal pulse/BP in limbs,
mid-systoliccontinuous murmur
 CxR- ‘3’ sign of aorta, rib notching
 Dx- ECHO
 Complication- cerebral hemorrhage due to HT
 Rx- recommended if gradient >20 mm Hg-
stenting or surgical correction

12. Pulmonary stenosis
 Valvular, supravalvular, subvalvular
 Supravalvular stenosis common with rubella
embryopathy
 Clinical course determined by severity of
obstruction
 s/s- fatigue, DOE, syncope, RVF
delayed soft P2, RPSH, ESM in pulmonary area, ± PSM of TR
 Evaluation- ECHO
 Rx- when resting peak gradient >40 mm Hg-
balloon valvulopasty

13. Valve defects
 Bicuspid aortic valve-
 Commonest congenital heart defect
 Can cause aortic stenosis or regurgitation
 Increases risk of aortic aneurysm/dissection
 Mitral valve prolapse-
 Myxomatous degeneration of mitral valve leaflets
 Results in mitral regurgitation
 Mid/late systolic click with late systolic murmur, at apex
 Evaluation- ECHO
 Rx- β-blockers, MV repair/MV replacement for MR

14. Cyanotic CHD
 With increased pulmonary blood flow
 Complete transposition of great arteries-
Aorta arises from RV & pulmonary artery from
LV, creating two parallel circulation
2/3rd
have PDA & 1/3rd
have VSD
Rx- surgery- arterial or atrial switch
 Total anamolous pulm. venous connection-
All pulmonary veins drain into RA/systemic veins
Interatrial communication is must
Surviving adults have reversal of shunt & cyanosis

15. Cyanotic CHD
 With decreased pulmonary blood flow
 Tricuspid atresia-
Tricuspid valve atresia,
with an interatrial communication &
hypoplastic RV
 Ebstein anomaly-
Downward displacement of TV into RV
Proximal RV gets atrialized &
distal RV is small
TR is commonly associated
 Tetralogy of Fallot

16. Tetralogy of Fallot
 Commonest cyanotic CHD
 4 components-
PS, RVH, VSD, aortic override of VSD
 Severity determined by RV outflow obstruction
 Associated noncardiac abnormalities- common
 Cyanosis, polycythemia, hypoxemia are prominent
 Evaluation-
ECG- RVH
CxR- boot shaped heart, decreased pulmonary
vessel markings
ECHO & angiography
 Rx- surgical correction