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.
Authors
- Emilien Derycke
- Jelena Hubrechts (ORCID: https://orcid.org/0000-0001-6719-2746)
- Stéphane Moniotte (ORCID: https://orcid.org/0000-0002-0900-6674)
- Thierry Detaille (ORCID: https://orcid.org/0000-0003-0372-578X)
- Julien Van Huffel
Institutions
- Cliniques Universitaires Saint-Luc (BE)
- Hôpital Saint-Luc (CA)
Publication Details
- 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