A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alstrom Syndrome

We report a case of a five-month-old girl, who presented to our hospital with increased work of breathing, sweating since birth, and abnormal eye movements. On further evaluation, she was found to have restrictive cardiomyopathy, nystagmus, and hypotonia. Genetic workup showed a pathogenic variant in the ALSM1 gene, which confirmed the diagnosis of Alstr??m syndrome. Alstr??m syndrome is a rare condition that is characterized by a wide variety of multisystem manifestations, including visual disturbances, hearing impairment, and cardiomyopathy. This case report highlights Alstr??m syndrome as one of the rare causes of early-onset infantile cardiomyopathy with nystagmus.