CHD and Syndromes

Question 1

Trisomy 21:

• What percentage have a congenital heart defect?
• What is the most common defect?
• Name the other common defects.
• What else are they at risk of developing?

Answer 1

50%
AVSD/AV Canal defect
ASDs and VSDs
Pulmonary hypertension

Question 2

Turner’s Syndrome:

• What percentage have CHD?
• Where do defects typically occur?
• What are the most common defects?
• What are they at risk of developing?

Answer 2

30%
Aorta
Coarctation, aortic stenosis, bicuspid aortic valve
Aortic dissection

Question 3

DiGeorge Syndrome:

• What percentage have CHD?
• Where do defects typically occur?
• Name some examples.

Answer 3

80%
Aortic and pulmonary roots (conotruncal anomalies)
Interrupted aortic arch, tetralogy, truncus arteriosus

Question 4

William’s Syndrome:

• What percentage have CHD?
• What is the most common defect?
• Which other defects may be present?

Answer 4

75%
Aortic stenosis (supravalvular)
Branch pulmonary artery stenosis and/or septal defects

Question 5

Which cardiac conditions are associated with:

• VACTERL?
• Alagille syndrome?
• Loeys-Dietz syndrome?

Answer 5

VACTERL: VSD is most common, also get ASD, HLHS, TGA, TOF, PDA

Alagille: Peripheral pulmonary artery stenosis, TOF

Loeys-Dietz: Aortic root aneurysms

Question 6

CHARGE syndrome:

• What percentage have CHD?
• What is the most common condition?
• Which other defects are associated?

Answer 6

80%
Tetralogy
VSD, AV canal defect, aortic arch abnormalities

Question 7

Noonan syndrome:

• How many have CHD?
• What are the most common defects?

Answer 7

Two thirds

Pulmonary stenosis, ASD