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.
Volume
34
Issue
2
First Page
455
Last Page
458
ISSN
1432-1971
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.
Recommended Citation
Mahamid J,
Lorber A,
Horovitz Y,
Shalev S,
Collin GB,
Naggert JK,
Marshall JD,
Spiegel R.
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. Pediatr Cardiol 2013 Feb; 34(2):455-8.