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Cardiac involvement in genetic disease 

Cardiac involvement in genetic disease
Chapter:
Cardiac involvement in genetic disease
Author(s):

Thomas A. Traill

DOI:
10.1093/med/9780199204854.003.1611_update_001

Update:

Expanded discussion of genetic causes of Noonan’s syndrome and Ellis-van Creveld syndrome, and pharmacological treatment in Marfan’s syndrome.

Updated on 27 Nov 2014. The previous version of this content can be found here.
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date: 17 October 2017

Many clinicians find themselves faced, from time to time, with a patient who has a family history of a known disorder, such as Marfan’s syndrome, or who has noncardiac features that suggest a syndrome.

Down’s syndrome—25 to 50% have congenital heart disease, most characteristically atrioventricular canal defect....

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