A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

Abstract

Abstract Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.

Keywords

• Alström syndrome
• dilated cardiomyopathy
• next generation sequencing