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 FavilliPublished 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.