Open AccessA rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis
Author(s) -
Spinelli Valentina,
Girolami Francesca,
Marrone Chiara,
Consigli Veronica,
Iascone Maria,
Passantino Silvia,
Porcedda Giulio,
Calabri Giovanni Battista,
De Simone Luciano,
Olivotto Iacopo,
Santoro Giuseppe,
Favilli Silvia
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3327
Subject(s) - medicine , etiology , cardiomyopathy , genetic counseling , autopsy , dilated cardiomyopathy , genetic diagnosis , pediatrics , genetics , gene , heart failure , biology
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.