[Familial pulmonary stenosis: considerations on genetic aspects].
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.
Manetti
A
A
Cardiologia Ospedale A. Meyer, Firenze.
Favilli
S
S
Mandorla
S
S
De Simone
L
L
Dolara
A
A
D000328:Adult; D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis / Q000235:genetics*; D016216:Ultrasonography, Prenatal
Stenosi polmonare familiare: considerazione sugli aspetti genetici.