Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs
Article first published online: 4 APR 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 135A, Issue 1, pages 96–98, 15 May 2005
How to Cite
Hoffman, J.D., Jacobson, Z., Young, T.L., Marshall, J.D. and Kaplan, P. (2005), Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs. Am. J. Med. Genet., 135A: 96–98. doi: 10.1002/ajmg.a.30688
- Issue published online: 20 APR 2005
- Article first published online: 4 APR 2005
- Manuscript Accepted: 1 FEB 2005
- Manuscript Received: 13 SEP 2004
- Alström syndrome;
- dilated cardiomyopathy;
- pigmentary retinopathy;
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. © 2005 Wiley-Liss, Inc.