ABC Heart Fail Cardiomyop 2023; 3(1): e20230016
Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature
Ana Flavia Malheiros Torbey
, Aurea Lucia Alves de Azevedo Grippa de Souza
, Estela Azeka
, Maraisa Fachini Spada
Abstract
Cardiomyopathies constitute a heterogeneous group of diseases with varying etiologies and clinical presentation. Advances in genetic testing have made it possible to establish genotype-phenotype relationships, determine prognosis, and choose specific treatments in the pediatric population. Therefore, the objective of this review is to assist clinical reasoning and underscore the importance of etiological diagnosis in different disease phenotypes.
Keywords: Adolescent; Cardiomyopathies; Child; Diagnosis; Phenotype
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