Cureus. 2024 Dec 1;16(12):e74895. doi: 10.7759/cureus.74895. eCollection 2024 Dec.
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.
PMID:39742192 | PMC:PMC11686418 | DOI:10.7759/cureus.74895
