Protocolo diagnóstico de las miocardiopatías genéticas

  1. García Campos, A. 1
  2. Pérez Domínguez, M. 1
  3. Díaz Fernández, B. 1
  4. González Juanetey, J.R. 1
  1. 1 Servicio de Cardiología, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, La Coruña, España, CIBERCV
Journal:
Medicine: Programa de Formación Médica Continuada Acreditado

ISSN: 0304-5412

Year of publication: 2021

Issue Title: Enfermedades cardiovasculares (VIII)

Series: 13

Issue: 42

Pages: 2481-2485

Type: Article

DOI: 10.1016/J.MED.2021.09.024 DIALNET GOOGLE SCHOLAR

More publications in: Medicine: Programa de Formación Médica Continuada Acreditado

Abstract

Genetic cardiomyopathies are a complex group of diseases due to the overlap of phenotypes, genetic heterogeneity, and incomplete penetrance associated with them. However, diagnosing the genetic etiology is an important step in the process, as it can facilitate the specific management of some cardiomyopathies and allows for identifying at-risk family members who may benefit from early treatment. Thanks to advances in genetic technology, numerous causal genes have been identified in relation to the different cardiomyopathy phenotypes. In this article, we will evaluate a diagnostic approach to genetic cardiomyopathies and the most relevant genes involved.

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