de Gonzalo-Calvo D, Quezada M, Campuzano O, Perez-Serra A, Broncano J, Ayala R, Ramos M, Llorente-Cortes V, Blasco-Turrión S, Morales F J, Gonzalez P, Brugada R, Mangas A, Toro R
Cardiovascular Research Center, CSIC-ICCC, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Hospital Universitario de la Cruz Roja, Madrid, Spain.
Int J Cardiol. 2017 Feb 1;228:870-880. doi: 10.1016/j.ijcard.2016.11.045. Epub 2016 Nov 8.
Idiopathic dilated cardiomyopathy has become one of the most prevalent inherited cardiomyopathies over the past decades. Genetic screening of first-degree relatives has revealed that 30-50% of the cases have a familial origin. Similar to other heart diseases, familial dilated cardiomyopathy is characterized by a high genetic heterogeneity that complicates family studies. Cli'nical screening, 12-lead electrocardiogram and transthoracic echocardiogram are recommended for patients and first-degree family members. Magnetic resonance also needs to be considered. Genetic technologies have become fundamental for the clinical management of this disease. New generation sequencing methods have made genetic testing feasible for extensive panels of genes related to the disease. Recently, new imaging modalities such as speckle-tracking, strain and strain rate or magnetic resonance, and circulating biomarkers such as non-coding RNAs, have emerged as potential strategies to help cardiologists in their clinical practice. Imaging, genetic and blood-based techniques should be considered together in the evaluation and testing of familial dilated cardiomyopathy. Here, we discuss the current procedures and novel approaches for the clinical management of familial dilated cardiomyopathy.
在过去几十年中,特发性扩张型心肌病已成为最常见的遗传性心肌病之一。对一级亲属进行基因筛查发现,30%至50%的病例有家族遗传背景。与其他心脏病相似,家族性扩张型心肌病的特点是基因高度异质性,这使得家族研究变得复杂。建议对患者及其一级家庭成员进行临床筛查、12导联心电图和经胸超声心动图检查。磁共振成像也需要考虑。基因技术已成为这种疾病临床管理的基础。新一代测序方法使对与该疾病相关的大量基因进行基因检测成为可能。最近,诸如斑点追踪、应变和应变率或磁共振成像等新的成像模式,以及诸如非编码RNA等循环生物标志物,已成为帮助心脏病专家临床实践的潜在策略。在家族性扩张型心肌病的评估和检测中,应综合考虑成像、基因和基于血液的技术。在此,我们讨论家族性扩张型心肌病临床管理的当前程序和新方法。