Barriales-Villa Roberto, Gimeno-Blanes Juan Ramón, Zorio-Grima Esther, Ripoll-Vera Tomás, Evangelista-Masip Artur, Moya-Mitjans Angel, Serratosa-Fernández Luis, Albert-Brotons Dimpna C, García-Pinilla José Manuel, García-Pavía Pablo
Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.
Servicio de Cardiología, Hospital Clínico Universitario Virgen de la Arrixaca, Universidad de Murcia, Instituto Murciano de Investigación Biosanitaria (IMIB)-Arrixaca, El Palmar, Murcia, Spain.
Rev Esp Cardiol (Engl Ed). 2016 Mar;69(3):300-9. doi: 10.1016/j.rec.2015.11.029. Epub 2016 Feb 6.
The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics: they have a genetic basis, a familial presentation, a heterogeneous clinical course, and, finally, can all be associated with sudden cardiac death. The present document summarizes some important concepts related to recent advances in sequencing techniques and understanding of the genetic bases of these diseases. We propose diagnostic algorithms and clinical practice recommendations and discuss controversial aspects of current clinical interest. We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions.
遗传性心血管疾病这一术语涵盖了一组具有若干共同特征的心血管疾病(心肌病、离子通道病、某些主动脉疾病及其他综合征):它们具有遗传基础、呈家族性表现、临床病程具有异质性,并且最终都可能与心源性猝死相关。本文件总结了一些与测序技术的最新进展以及对这些疾病遗传基础的理解相关的重要概念。我们提出了诊断算法和临床实践建议,并讨论了当前临床关注的争议性方面。我们强调了多学科转诊单位在这些疾病诊断和治疗中的作用。