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Cardiac involvement in genetic disease 

Cardiac involvement in genetic disease
Cardiac involvement in genetic disease

Thomas A. Traill



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

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date: 27 September 2021

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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