Infantile Dilated Cardiomyopathy in Alström Syndrome

We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy. We review the cardiac features of ALMS. To our knowledge, we also describe the first case of successful surgical pulmonary artery banding in ALMS.

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Journal
Cureus
Published
2024-12-01
DOI
https://doi.org/10.7759/cureus.74895
Citations
1
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.55
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Infantile Dilated Cardiomyopathy in Alström Syndrome

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article

Infantile Dilated Cardiomyopathy in Alström Syndrome

Emilien Derycke, Jelena Hubrechts, Stéphane Moniotte, Thierry Detaille, Julien Van Huffel
article en
1 citations

Abstract

We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy. We review the cardiac features of ALMS. To our knowledge, we also describe the first case of successful surgical pulmonary artery banding in ALMS.

CureusVol. 16(12)
Cliniques Universitaires Saint-Luc (BE), Hôpital Saint-Luc (CA)
Good health and well-being
Openalex Percentile: Top 24%
Genetic and Kidney Cyst Diseases
0.55
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