Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.

Published

Journal Article

Alström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal failure, and dilated cardiomyopathy. We report on four sibs with Alström syndrome with intra-familial variability in onset, severity, and spectrum of manifestations; the most serious manifestation being dilated cardiomyopathy. This report emphasizes the difficulty of recognizing this constellation of symptoms as Alström syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression.

Full Text

Duke Authors

Cited Authors

  • Hoffman, JD; Jacobson, Z; Young, TL; Marshall, JD; Kaplan, P

Published Date

  • May 15, 2005

Published In

Volume / Issue

  • 135 / 1

Start / End Page

  • 96 - 98

PubMed ID

  • 15809999

Pubmed Central ID

  • 15809999

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.30688

Language

  • eng

Conference Location

  • United States