inherited disorders and CV defects

Question 1

Down syndrome

Answer 1

Endocardial cushion defects (eg ostium primum ASD, regurgitant AV valves), VSD, ASD, AV septal defect
Note: complete AV canal defect (ASD, VSD, and common AV valve) is the MC congenital cardiac anomaly assoc with Down

Question 2

Tetrology of fallot, truncus arteriosus

interrupted aortic arch

Answer 2

DiGeorge syndrome

Question 3

Hypertrophic cardiomyopathy

Answer 3

Friedreich ataxia

Question 4

Situs inversus

Answer 4

Kartagener syndrome

Question 5

Cystic medial necrosis (eg aortic dissection and aneurysm), AR, MVP

Answer 5

Marfan syndrome

Question 6

Valvular obstruction due to cardiac rhabdomyomas

Answer 6

Tuberous sclerosis

Question 7

Aortic coarctation

Bicuspid aortic valve

Answer 7

Turner syndrome

Question 8

Alcohol exposure in utero (fetal alcohol syndrome)

Answer 8

VSD, ASD, PDA, tetrology of Fallot

Question 9

Congenital rubella

Answer 9

PDA, pulmonary artery stenosis, septal defects

Question 10

Transposition of great vessels

Answer 10

infant of diabetic mother

Question 11

lithium exposure

Answer 11

Ebstein anomaly (atrialization)