Title

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Document Type

Article

Publication Date

2-2013

Keywords

Alstrom Syndrome, Cardiomyopathy, Dilated, Child, Preschool, Codon, Nonsense, DNA, DNA Mutational Analysis, Echocardiography, Homozygote, Humans, Male, Proteins, Siblings

JAX Location

Reprint Collection

JAX Source

Pediatr Cardiol 2013 Feb; 34(2):455-8.

PMID

22447358

Abstract

Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease. Pediatr Cardiol 2013 Feb; 34(2):455-8.

Please contact the Joan Staats Library for information regarding this document.

Share

COinS