An operated case of Holt-Oram syndrome with autosomal dominant inheritance.
This report is concerned with a patient successfully operated for Holt-Oram syndrome. The disorder is inherited dominantly with complete penetrance and variable expressivity. It is pointed out that in cases of congenital heart disease familial cumulation must be borne in mind which can easily be verified by pedigree investigation. After demonstrating autosomal dominant inheritance, suitable inferences must be drawn for genetic counseling. Attention is drawn to the heart-surgical significance of the rhythm disorders so often associated with the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000601:surgery; D000293:Adolescent; D005260:Female; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000601:surgery; D006801:Humans; D010375:Pedigree; D013577:Syndrome