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[Familial pulmonary stenosis: considerations on genetic aspects]
A Manetti1, S Favilli, S Mandorla
1Cardiologia Ospedale A. Meyer, Firenze.
Abstract:
A family with 4 cases of pulmonary valvular stenosis with under-developed or normal right ventricle, is reported. The father and his three daughters were affected. In two of the girls, who were twins, a prenatal diagnosis was made using 2D-echo. The importance of genetic counseling and prenatal diagnosis in the families at risk are underlined.