Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy

Abstract

Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alström syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents. This report reiterates the fact that genetic testing for cardiomyopathy without an obvious acquired cause helps in identification of the underlying etiology, appropriate management, early diagnosis of syndromic forms, and monitoring and pre-symptomatic intervention for associated extracardiac complications.

Keywords: ALMS1 gene; Alström syndrome; Dilated cardiomyopathy.