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

Valentina SpinelliFrancesca GirolamiChiara MarroneVeronica ConsigliMaria IasconeSilvia PassantinoGiulio PorceddaGiovanni Battista CalabriLuciano De SimoneIacopo OlivottoGiuseppe SantoroSilvia Favilli

Published in: Clinical case reports (2020)

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.

Keyphrases

early onset
rare case
genome wide
copy number
late onset
heart failure
dna methylation
case report
young adults
gene expression
single molecule
human immunodeficiency virus