Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome

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 i...

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Bibliographic Details
Published in:Pediatric cardiology 2013-02, Vol.34 (2), p.455-458
Main Authors: Mahamid, Jamal, Lorber, Avraham, Horovitz, Yoseph, Shalev, Stavit A., Collin, Gayle B., Naggert, Jürgen K., Marshall, Jan D., Spiegel, Ronen
Format: Article
Language:English
Subjects:
Alstrom Syndrome - complications
Alstrom Syndrome - diagnosis
Alstrom Syndrome - genetics
Cardiac Surgery
Cardiology
Cardiomyopathy, Dilated
Cardiomyopathy, Dilated - diagnosis
Cardiomyopathy, Dilated - etiology
Cardiomyopathy, Dilated - genetics
Case Report
Child, Preschool
Codon, Nonsense
Development and progression
DNA - genetics
DNA Mutational Analysis
Echocardiography
Furosemide
Genetic aspects
Heart
Homozygote
Humans
Male
Medicine
Medicine & Public Health
Proteins - genetics
Respiratory tract diseases
Siblings
Type 2 diabetes
Vascular Surgery
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Description
Summary: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.
ISSN:0172-0643
1432-1971
DOI:10.1007/s00246-012-0296-6