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

Rev Esp Cardiol (Engl Ed). 2019 Apr;72(4):333-340. doi: 10.1016/j.rec.2018.10.017. Epub 2019 Feb 18.
[Article in En, Spanish]

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.

Keywords: Dilated cardiomyopathy; Estudio genético; Genetic testing; Miocardiopatía dilatada; Mutación; Mutation.

Publication types

  • Systematic Review

MeSH terms

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

Substances

  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • BAG3 protein, human
  • Calcium-Binding Proteins
  • Cytoskeletal Proteins
  • FLNC protein, human
  • Filamins
  • Lysosomal-Associated Membrane Protein 2
  • NAV1.5 Voltage-Gated Sodium Channel
  • RNA-Binding Proteins
  • SCN5A protein, human
  • phospholamban
  • ribonucleic acid binding motif protein 20, human