Congenital Syndromes

Question 1

What % of congenital heart defects are associated with a congenital syndrome or chromosomal abnormality?

Answer 1

18%

Question 2

What is the most common chromosomal abnormality in infants with CV defects?

Answer 2

Down syndrome (81%) which has a CHD prevalence of 40%.

Question 3

List non-cardiac co-existing diseases or special care issues in Down’s

Answer 3

• Hypothyroid
• Leukemia
• Alzheimer’s
• Depression
• Atlantoaxial subluxation
• Obesity
• Sleep apnea

Question 4

What congenital heart defect(s) is associated with chromosome 22q11.2 deletion?

Answer 4

Tetralogy of Fallot and other conotruncal defects

–15% of the above CHD patients have the chromosomal deletion

Question 5

Digeorge syndrome is linked with what CHDs?

Answer 5

• Tetralogy of Fallot, other conotruncal defects
• Type B interrupted aortic arch
• Truncus arteriosus

Question 6

Shprintzen syndrome

Answer 6

Velocardiofacial

Question 7

Takao syndrome

Answer 7

Conotruncal anomaly face

Question 8

What CHD is Williams syndrome associated with?

Answer 8

Supravalvular AS.

Williams is associated with chromosome deletion in band 7q11.23. Often have characteristic facial features.