Department for Cardiology, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland.
J Mol Med (Berl). 2018 Oct;96(10):993-1024. doi: 10.1007/s00109-018-1685-y. Epub 2018 Aug 20.
Cardiomyopathies are primarily genetic disorders of the myocardium associated with higher risk of life-threatening cardiac arrhythmias, heart failure, and sudden cardiac death. The evolving knowledge in genomic medicine during the last decade has reshaped our understanding of cardiomyopathies as diseases of multifactorial nature and complex pathophysiology. Genetic testing in cardiomyopathies has subsequently grown from primarily a research tool into an essential clinical evaluation piece with important clinical implications for patients and their families. The purpose of this review is to provide with a contemporary insight into the implications of genetic testing in diagnosis, therapy, and prognosis of patients with inherited cardiomyopathies. Here, we summarize the contemporary knowledge on genotype-phenotype correlations in inherited cardiomyopathies and highlight the recent significant achievements in the field of translational cardiovascular genetics.
心肌病主要是心肌的遗传疾病,与危及生命的心律失常、心力衰竭和心源性猝死的风险增加有关。在过去十年中,基因组医学的不断发展改变了我们对心肌病作为一种多因素疾病和复杂病理生理学疾病的理解。心肌病的基因检测随后从主要的研究工具发展成为对患者及其家属具有重要临床意义的重要临床评估手段。本综述的目的是提供对遗传检测在遗传性心肌病的诊断、治疗和预后中的意义的现代见解。在这里,我们总结了遗传性心肌病中基因型-表型相关性的当代知识,并强调了心血管转化遗传学领域的最新重大成就。