Herrera-Rodríguez Diana L, Totomoch-Serra Armando, Rosas-Madrigal Sandra, Luna-Limón Claudia, Marroquín-Ramírez Daniel, Carnevale Alessandra, Rosendo-Gutiérrez Rigoberto, Villarreal-Molina María T, Márquez-Murillo Manlio F
Servicios de Salud de Chihuahua, Secretaría de Salud, Chihuahua, México.
Departamento de Genética y Biología Molecular, Centro de Investigación y Estudios Avanzados del Instituto Politécnico Nacional (IPN), Ciudad de México, México.
Arch Cardiol Mex. 2020;90(1):58-68. doi: 10.24875/ACM.19000294.
Hypertrophic cardiomyopathy is characterized by left ventricular hypertrophy without apparent cardiac justification. Sudden cardiac death may be the first manifestation of the disease. It occurs mainly in adulthood and can be seen in childhood and adolescence where genetic origin predominates. Primary HCM ("familial") is inherited in an autosomal dominant pattern in the 25 subtypes informed in Online Mendelian Inheritance in Man. The proteins encoded by the mutated genes are part of the sarcomere in the cardiac cells, being the thick filament the most frequently affected, with the worst prognosis. In the present article, we describe the Mendelian inheritance of the disease and the two most associated genes with sudden death: MYBPC3 and MYH7.
肥厚型心肌病的特征是左心室肥厚,且无明显的心脏病因。心源性猝死可能是该疾病的首发表现。它主要发生在成年期,在儿童和青少年中也可见,其中遗传因素占主导。原发性肥厚型心肌病(“家族性”)以常染色体显性模式遗传,在《人类孟德尔遗传在线》中记载的25种亚型中均有体现。突变基因编码的蛋白质是心肌细胞肌节的一部分,其中粗肌丝受影响最为频繁,预后最差。在本文中,我们描述了该疾病的孟德尔遗传方式以及与猝死最相关的两个基因:MYBPC3和MYH7。