1. Congenital Heart Disease
Most common type of heart disease
among children
a) ~ 1% of live births
b) most causes unknown
i) ~ 10% genetic
- e.g., trisomy 21 (Down syndrome)
- congenital defect in parent or sibling is greatest risk factor

2. Types:
a) L to R shunt
b) R to L shunt
c) obstructions
1.- L to R shunts
a) ASD, VSD, PDA
i)  pulmonary blood flow (ASD)
- NO cyanosis
b)  RV pressures and Vol. (VSD,PDA)
i) hypertrophy
ii)  PVR (vasoconstriction)
- to prevent edema

3. c) Over time PVR  to that of SVR
i) reverses shunt (cyanosis)
2.- R to L shunt
a)  pulmonary blood flow
i) Cyanosis “blueness” of skin
b) examples:
i) tetralogy of Fallot
ii) great vessel transposition
iii) truncus arteriosus
iv) tricuspid atresia
v) anomalous pulmonary venous
connection

4. c) long standing cyanosis is. associated with “clubbing” of the
c) long standing cyanosis is associated with “clubbing” of the tips of the fingers and toes

5. 3.- Obstructions (of flow)
a) coarctation of the aorta
b) valvular stenosis
i) aortic
ii) pulmonary
c) complete obstruction is called “Atresia”

6. Left to Right Shunts
Most common:
a) VSD, ASD, PDA and AVSD

7. i) VSD most common
- close spontaneously (50%)
ii) ASD usually not symptomatic before 30 yrs

8. iii) DA remains open after birth
- ~ 90% occur as isolated anomaly
- reversal of flow with  PVR
causes cyanosis
- PGE will maintain DA
cardiac defects such as obstructive disease
iv) complete atrioventricular canal defect
- all 4 chambers freely communicate (Down syndrome)

9. Right to Left Shunts
Tetralogy of Fallot
a) Most common form of cyanotic congenital heart disease
Defects:
a) VSD
b) Pulmonary artery stenosis
i) determines clinical outcome
c) aorta that overrides VSD
d) RV hypertrophy

11. Clinical Presentation: a) The onset and degree of cyanosis depends on:
i) severity of the pulmonary obstruction
ii) the size of the shunt.
b) Cyanosis is usually not seen until months of age.
c) The cyanosis is due to right ventricle outflow obstruction causing unoxygenated blood through the VSD.
Tetralogy of Fallot (TOF)
Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed

12. Transposition of the Great Arteries
(TGA)
a) aorta arises from RV
i) is anterior and to the right of the pulmonary artery
b) pulmonary artery arises from LV
c) total separation of pulmonary and systemic circulations
i) need a shunt to survive following birth
- VSD  stable shunt

13. unstable shunt (close quickly after birth)  need surgery
- PDA, foramen ovale 
unstable shunt (close quickly after birth)  need surgery
the aorta originates from the right ventricle, so most of the blood returning to the heart from the body is pumped back out without first going to the lungs.
the pulmonary artery originates from the left ventricle, so that most of the blood returning from the lungs goes back to the lungs again

14. Truncus Arteriosus
Failure of separation into aorta and
pulmonary artery
a) results in single great artery
i) receives blood from both ventricles
- early systemic cyanosis
b) accompanying VSD
c)  pulmonary blood flow
i) danger of irreversible pulmonary hypertension

16. Tricuspid Atresia
Clinical Presentation: a) Cyanosis is almost always present at birth and is progressive.
b) Etiology/Pathophysiology: i) Due to absence of the tricuspid valve. This leads to an interatrial right to left shunt, usually through a patent foramen ovale.

17. Total Anomalous Pulmonary Venous Connection (TAPVC)
No pulmonary veins directly join LA
a) drain into left innominate vein or coronary sinus
b) PV drain into RA
ASD or foramen ovale always present
a) allows PV blood to enter LA
b) R to L shunt
Volume and pressure hypertrophy of RV

18. Obsttructive Congenital Anomalies
Coarctation of the Aorta
Narrowing
Males 2:1 vs. female
a) females with Turners frequently have coarctation
2 types:
a) infantile (with PDA; poor outcome)
i) prior to PDA
- symptoms early in life
- cyanosis of lower body

19. b) adult (without PDA)
i) most children asymptomatic
until late in life
ii) hypertension in upper extremities
iii) hypotension in lower extremities
LV hypertrophy