Peña-Peña Maria Luisa, Monserrat Lorenzo
Unidad de Cardiopatías Familiares, Departamento de Cardiología, Hospital Universitario Virgen del Rocío, Seville, Spain; Departamento de Cardiología, Health in Code, A Coruña, Spain.
Departamento de Cardiología, Health in Code, A Coruña, Spain.
Rev Esp Cardiol (Engl Ed). 2019 Apr;72(4):333-340. doi: 10.1016/j.rec.2018.10.017. Epub 2019 Feb 18.
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.
近50%的扩张型心肌病病例是遗传性的。已有90多个基因与这种疾病相关,它是心脏移植的主要原因之一,并且与心脏性猝死风险增加有关。对这些患者进行风险分层仍然具有挑战性。确定疾病的具体病因对于早期发现突变携带者非常有用。基因研究通常能提供预后信息并可确定治疗方法。根据突变基因、突变类型以及其他遗传和环境因素的存在情况,可观察到广泛的表型变异性。