从心肌肥厚到心力衰竭：遗传性心肌病的新进展
From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies.
作者信息
Reza Nosheen, Musunuru Kiran, Owens Anjali Tiku
机构信息
Division of Cardiovascular Medicine, Department of Medicine, and Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Cardiovascular Institute, Philadelphia, PA, 19104, USA.
Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, 11 South Pavilion, Room 11-134, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
出版信息
Curr Heart Fail Rep. 2019 Oct;16(5):157-167. doi: 10.1007/s11897-019-00435-0.
PURPOSE
The purpose of this review is to provide an update on the recent advances in the research and clinical care of patients with the major phenotypes of inherited cardiomyopathies-hypertrophic, dilated, and arrhythmogenic. Developments in genetics, risk stratification, therapies, and disease modeling will be discussed.
RECENT
Diagnostic, prognostic, and therapeutic tools which incorporate genetic and genomic data are being steadily incorporated into the routine clinical care of patients with genetic cardiomyopathies. Human pluripotent stem cells are a breakthrough model system for the study of genetic variation associated with inherited cardiovascular disease. Next-generation sequencing technology and molecular-based diagnostics and therapeutics have emerged as valuable tools to improve the recognition and care of patients with hypertrophic, dilated, and arrhythmogenic cardiomyopathies. Improved adjudication of variant pathogenicity and management of genotype-positive/phenotype-negative individuals are imminent challenges in this realm of precision medicine.
目的
本综述的目的是提供关于遗传性心肌病主要表型（肥厚型、扩张型和致心律失常型）患者研究与临床护理方面近期进展的最新信息。将讨论遗传学、风险分层、治疗方法和疾病建模方面的进展。
近期情况
整合了遗传和基因组数据的诊断、预后和治疗工具正稳步纳入遗传性心肌病患者的常规临床护理中。人类多能干细胞是用于研究与遗传性心血管疾病相关基因变异的突破性模型系统。新一代测序技术以及基于分子的诊断和治疗方法已成为改善肥厚型、扩张型和致心律失常型心肌病患者识别与护理的宝贵工具。在这一精准医学领域，改进变异致病性的判定以及对基因型阳性/表型阴性个体的管理是迫在眉睫的挑战。
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