Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report

Obesity-retinopathy-diabetes syndrome, also known as Alström syndrome (AS), is an extremely rare autosomal recessive disorder caused by pathogenic variants in the Alström syndrome 1 (ALMS1) gene. Its estimated incidence is 1-9 cases per million, with approximately 1,050 cases reported worldwide. AS is characterized by progressive, multisystem dysfunction with age-related and variable clinical features, often leading to multi-organ failure and premature death.

We report a female infant who initially presented with reversible heart failure in early infancy and subsequently developed nystagmus at six months of age. Genetic testing identified compound heterozygous pathogenic variants in the ALMS1 gene, confirming the diagnosis of AS.

AS is characterized by multisystem involvement and variable age-related clinical expression. Cardiac dysfunction may precede classic features such as nystagmus or obesity, emphasizing the need for early genetic screening in infants with unexplained cardiomyopathy. Prompt diagnosis facilitates targeted management and improves outcomes.