Familial congenital valvar pulmonary stenosis: autosomal dominant inheritance.
A mother and three of her four children, one girl and two boys, who had valvar pulmonary stenosis are described. One child had an associated septum secundum atrial septal defect, and another had an associated ventricular septal defect. An autosomal dominant mode of inheritance is likely for the valvar pulmonary stenosis. The association of additional cardiac lesions in two of the three siblings raises the possibility of closely associated genetic loci.
Udwadia
A D
AD
Department of Pediatric Medicine, King Edward VII Memorial Hospital, Parel, Bombay, India.
Khambadkone
S
S
Bharucha
B A
BA
Lokhandwala
Y
Y
Irani
S F
SF
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000235:genetics*