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

Am J Med Genet A. 2005 May 15;135(1):96-8. doi: 10.1002/ajmg.a.30688.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Cardiomyopathy, Dilated / pathology*
  • Cell Cycle Proteins
  • Child
  • Chromosomes, Human, Pair 2 / genetics
  • Eye Diseases / pathology*
  • Family Health
  • Fatal Outcome
  • Female
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Hypogonadism / pathology
  • Infant
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Proteins / genetics
  • Siblings
  • Syndrome


  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins