Congenital cardiac defect associations

Question 1

Alcohol exposure in utero

Answer 1

Fetal alcohol syndrome

VSD, PDA, ASD, tetralogy of fallot

Question 2

Congenital Rubella

Answer 2

PDA, septal defects, pulmonary artery stenosis

Question 3

Down syndrome

Answer 3

Endocardinal cushion defect
- can create an abnormal defect in all 4 chambers of the heart

• AV septal defect
• ASD
• VSD

Question 4

Infant of diabetic mother

Answer 4

transposition of great vessels

Question 5

Marfan syndrome

Answer 5

• MVP
• Aortic regurgitation
• Thoracic aortic aneurysm and dissection
• cystic medial degeneration of aorta which predisposes for aortic dissection .

Question 6

Prenatal lithium exposure

Answer 6

Ebstein anomaly

Question 7

Turner syndrome

Answer 7

Bicuspid aorta, coarctation of aorta (infantile)

Note: there is an increase risk of infective endocarditis with a bicuspid aorta

Question 8

Williams syndrome

Answer 8

Supravalvular aortic stenosis

deletion of ELN gene– encodes for elastin – elf-like features

Question 9

22q11

Answer 9

DiGeorge syndrome

Trucus Arteriosis, tetralogy of Fallot