Clinical genetics Flashcards
1
Q
Give examples of genetic syndromes and the heart conditions found in them
A
Down syndrome: Arterioventricular Canal Defect
22q11.2 deletion syndrome: Conotruncal defects
William’s syndrome: Supravalvular aortic stenosis
Turner Syndrome: Coarctation of the aorta
Noonan syndrome: Hypertrophic Cardiomyopathy
NF1: Pulmonic stenosis
