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espanolLas miocardiopatias geneticas suponen un grupo de enfermedades complejo por la superposicion de fenotipos, la heterogeneidad genetica y la penetrancia incompleta que asocian. Sin embargo, el diagnostico de la etiologia genetica es un paso importante del proceso, ya que puede facilitar el manejo especifico de algunas miocardiopatias y permite identificar a familiares en riesgo que podrian beneficiarse de un tratamiento precoz. Gracias a los avances en la tecnologia genetica, se han identificado numerosos genes causantes en relacion con los diferentes fenotipos de miocardiopatias. En este protocolo valoraremos la aproximacion diagnostica de las miocardiopatias geneticas y los genes implicados mas relevantes. EnglishGenetic 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. |
