RESUMO
Apical hypertrophic cardiomyopathy is described in a father and his daughter. In both, identical segments of the left ventricle were involved by the hypertrophic process with differing degrees of severity. We suggest that the morphologic findings described are due to a single gene with an autosomal dominant mode of inheritance.
Assuntos
Cardiomegalia/genética , Cardiomiopatias/genética , Adolescente , Adulto , Cardiomegalia/diagnóstico , Cardiomiopatias/diagnóstico , Ecocardiografia , Feminino , Genes Dominantes , Humanos , MasculinoRESUMO
We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.