Congenital Heart Defects, Multiple Types, 7
Autosomal dominant
This condition is caused by a change in one copy of FLT4 (VEGFR3), and is linked to tetralogy of Fallot. Changes may be inherited or new, and penetrance may be incomplete, so relatives with the same change may have no heart defect.
Signs and symptoms
Tetralogy of Fallot is the defect linked to FLT4 in a large cohort (S2). Lymphoedema of the legs is a separate FLT4-related condition, Milroy disease (S1).
What a diagnosis changes
Heart defects are managed by paediatric and adult congenital cardiology teams, often with surgical repair in infancy and lifelong follow-up. Because the change may be inherited with reduced penetrance, genetic counselling, parental testing and echocardiogram screening of relatives or future pregnancies may be offered.
Genes analysed
Also known as
CHTD7
