title: [Congenital valvular heart disease with high familial penetrance].
abstract: Bicuspid valve aortic (BVA) is one of the most common congenital malformations. Only 20% of patients preserves a normal valve function throughout life. There are sporadic and familial forms, the latter to autosomal dominant. We present a case of familiarity of BVA high penetrance. Patient with aortic stenosis by BVA, is the father of two children with BVA.
authors.affiliation: Unita Operativa di UTIC e Cardiologia, Ospedale di Urbino, Urbino. giu.dattilo@libero.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Dattilo
authors.forename: Annalisa
authors.initials: A
authors.lastname: Lamari
authors.forename: Viviana
authors.initials: V
authors.lastname: Tulino
authors.forename: Michele
authors.initials: M
authors.lastname: Scarano
authors.forename: Eleonora
authors.initials: E
authors.lastname: De Luca
authors.forename: Daniela
authors.initials: D
authors.lastname: Mutone
authors.forename: Paolo
authors.initials: P
authors.lastname: Busacca
mesh_terms: D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000601:surgery; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000601:surgery; D015992:Body Mass Index; D003937:Diagnosis, Differential; D005220:Fathers; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000601:surgery; D006801:Humans; D006973:Hypertension / Q000150:complications; D008297:Male; D008875:Middle Aged; D056128:Obesity, Abdominal / Q000150:complications; D019683:Penetrance; D012307:Risk Factors; D014463:Ultrasonography