Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities.
The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.
D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004562:Electrocardiography; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D008297:Male; D011662:Pulmonary Subvalvular Stenosis / Q000235:genetics*