Congenital heart defects of inherited disorders

Question 1

Down syndrome

Answer 1

Endocardial cushion defects (Ostium primum ASD, regurgitant AV valves)

ASD has a split S2 on auscultation

Question 2

DiGeorge syndrome (22q11 syndrome)

Answer 2

ToF, truncus arteriosus, and aortic arch abnormalities

Question 3

Friedreich’s ataxia

Answer 3

HOCM

Question 4

Marfan syndrome

Answer 4

Cystic medical necrosis of the aorta, MVP, aortic regurgitation

Question 5

Tuberous sclerosis

Answer 5

Valvular obstruction due to cardiac rhabdomyomas

Question 6

Turner’s syndrome

Answer 6

Bicuspid aortic valve, coarctation of the aorta (preductal)

Question 7

Fetal alcohol syndrome

Answer 7

VSD

Question 8

Congenital rubella

Answer 8

PDA (continuous “machine-like” murmur), septal defects, PA stenosis

Question 9

Maternal diabetes

Answer 9

Transposition of the great vessels

Question 10

Kartagener syndrome

Answer 10

Situs inversus