Asymmetric septal hypertrophy in a large amish kindred.
We report a large Amish kindred in which asymmetric septal hypertrophy (ASH) appeared to segregate as an autosomal dominant gene. This kindred was ascertained through a 3-month-old infant and her father. The striking differences between father and daughter regarding clinical presentation and course exemplify the variable expressivity of this condition. The importance of genetic factors in diagnosis and counseling are discussed. Previous reports of ASH in infants and children are reviewed.
D000328:Adult; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D008297:Male; D010375:Pedigree