Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.

Maria Luisa Peña-Peña, Lorenzo Monserrat

Journal: Revista espanola de cardiologia (English ed.) 2019;72(4):333-340

PMID: 30792015

Full Text on Ediciones Doyma, S.L. View on PubMed

Abstract

Dilated cardiomyopathy is inherited in nearly 50% of cases. More than 90 genes have been associated with this disease, which is one of the main causes of heart transplant and has been associated with an increased risk of sudden cardiac death. Risk stratification in these patients continues to be challenging. The identification of the specific etiology of the disease is very useful for the early detection of mutation carriers. Genetic study often provides prognostic information and can determine the therapeutic approach. Wide phenotypic variability is observed depending on the mutated gene, the type of mutation, and the presence of additional genetic and environmental factors.

Address: Unidad de Cardiopatías Familiares, Departamento de Cardiología, Hospital Universitario Virgen del Rocío, Seville, Spain; Departamento de Cardiología, Health in Code, A Coruña, Spain. Electronic address: [email protected].; Departamento de Cardiología, Health in Code, A Coruña, Spain.

DOI: 10.1016/j.rec.2018.10.017

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MeSH Terms: Adaptor Proteins, Signal Transducing, Apoptosis Regulatory Proteins, Calcium-Binding Proteins, Cardiomyopathy, Dilated, Cytoskeletal Proteins, Desmosomes, Filamins, Genes, Genes, Mitochondrial, Genetic Testing, Humans, Lysosomal-Associated Membrane Protein 2, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Prognosis, RNA-Binding Proteins, Risk Assessment, Sarcomeres