Congenital Heart Disease

Question 1

What are the most common cardiac malformations?

Answer 1

ventricular septal defect 42%
atrial septal defect 10%
pulmonary stenosis 8%
PDA &%

Question 2

Name the 3 main causes (all genetic) that cause congenital heart malformations.

Answer 2

single gene mutations
small chromosomal deletions
whole chromosome abnormalities

Question 3

Name the 2 physiologic shunts of the fetus.

Answer 3

(right to left shunts)
foramen ovale
ductus arteriosus

Question 4

What causes physiologic closing of the PDA?

Answer 4

prostaglandins that are normally produced in the placenta are not produced after birth and the neonatal lungs metabolize PG as well

Question 5

How can pulmonary vascularity serve as clue regarding neonatal fetal shunting?

Answer 5

vascularity is increased with left to right shunting (greater pulmonary pressures- can be present without cyanosis)

pulmonary vascularity may be decreased with right to left shunting (decreased pulmonary pressures)

Question 6

List the cyanotic heart defects.

Answer 6

Terrible T's:
Tetralogy of Fallot
Trunks Ateriosus
Tricuspid Atresia
Total Anomalous Pulmonary Venous Connection
Transposition of the Great vessels

Question 7

Explain Eisenmenger’s Syndrome.

Answer 7

with initial fetal left to right shunt, you can get reversal of the shunt due to increased pulmonary pressures (causing cyanosis in adults)

Question 8

What are the 4 components of Tetralogy of Fallot.

Answer 8

**subpulmonic stenosis
RVH
Ventral septal defect
overiding aorta

clinically look for a “boot shaped heart” and decreased pulmonary vasculature

Question 9

What are the clinical features of Tetralogy of Fallot?

Answer 9

usually apparent by 6mo
dyspnea, cyanosis
polycythemia which may present as a cerebral thrombosis
infective endocarditis
(reduced survival without treatment)

Question 10

List the left to right congenital heart defects.

Answer 10

the D’s
atrial septal defect
ventricular septal defect
patent ductus arteriosus

Question 11

VSD, the most common congenital heart lesion is associate with what etiology?

Answer 11

associated with all the trisomies

90% are membranous, less likely to close spontaneously (unlike 50% of small muscular defects)

Question 12

What are the clinical features of VSD?

Answer 12

pulmonary HTN, CHF, pansystolic murmur

reversal can lead to cyanosis and Eisenmenger complex

Question 13

What is the most common congenital cardiac malformation diagnosed in adults?

Answer 13

atrial septal defect

represents 10% of congenital septal defects

Question 14

Contrast the location of osmium secundum and esteem primum defects.

Answer 14

ostium primum defects are low

ostium secudium defects are usually in the middle of the septum

Question 15

Describe the classic murmur of a patent ductus arteriosus and how would you cause closure of a PDA?

Answer 15

continuous ‘machinery-like murmur is classic for PDA, you can cause closure with indomethacin or keep it open with prostaglandin E

Question 16

PDA is often caused by which of the TORCH infections?

Answer 16

maternal rubella infection, PDA will eventually result in pulmonary HTN

Question 17

Name 3 examples of obstructive congenital anomalies.

Answer 17

coarctation of the aorta
pulmonary stenosis and atresia
aortic stenosis and atresia

Question 18

Describe how coarctation of the aorta is associated with the following:
a congenital syndrome
another CHD
another serious medical condition

Answer 18

coarctation of the aorta is associated with
Turner Syndrome
50% cases associated with a bicuspid aortic valve, also VSD or ASD
associated with berry aneurysm

Question 19

What are the two type of coarctation of the aorta?

Answer 19

preductal (infantile) PDA: more severe and more proximal

postductual (adult): more distal, at level of a closed DA aka ligamentum arteriosum

Question 20

Contrast the clinical features of preductal and post ductal coarctation

Answer 20

preductal presents in infancy as selective cyanosis of the lower extremities and congestive heart failure

postductal presents in older children and adults as notching of the ribs due to collaterals, intermittent claudication and low pressures of the lower extremities