Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: A report of four sibs

Alstrom 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 Alstrom 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 Alstrom syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression. (c) 2005 Wiley-Liss, Inc.