Autosomal dominant supravalvular aortic stenosis: large three-generation family.
Supravalvular aortic stenosis (SVAS) can be inherited as an isolated autosomal dominant trait or can be a component manifestation of the Williams syndrome. Some consider the Williams syndrome to be due to more severe expression of the gene defect that causes isolated SVAS. We describe a family with isolated SVAS that is the largest thoroughly studied family with this disorder to our knowledge; no patients in this family had Williams syndrome. Five members of this family were reported by Lewis et al. (Dis Chest 55:372-379, 1969). We reevaluated this family and now include examinations of the parents, additional sibs and children of the original 5 patients. Twenty relatives had physical and echocardiographic examinations. In addition, information from outside sources was obtained on 7 relatives not personally evaluated. The SVAS showed marked variability of expression and was not associated with mental retardation or with the facial manifestations of Williams syndrome. We think that previous reports of Williams syndrome reputedly occurring within the same family as isolated autosomal dominant SVAS were inadequately documented. Based on our family and review of the literature, we suggest that isolated SVAS and Williams syndrome represent clinically distinct entities.
Schmidt
M A
MA
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
Ensing
G J
GJ
Michels
V V
VV
Carter
G A
GA
Hagler
D J
DJ
Feldt
R H
RH
D000293:Adolescent; D000328:Adult; D000368:Aged; D000886:Anthropometry; D001020:Aortic Stenosis, Subvalvular / Q000235:genetics* / Q000473:pathology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome