Paul Caitlin, Peters Stacey, Perrin Mark, Fatkin Diane, Amerena John
Department of Cardiology, University Hospital Geelong, Geelong, Victoria, Australia.
Department of Medicine, Deakin University, Geelong, Victoria, Australia.
Intern Med J. 2023 Feb;53(2):178-185. doi: 10.1111/imj.15921. Epub 2022 Sep 21.
The landscape of genetically related cardiac disease continues to evolve. Heritable genetic variants can be a primary cause of familial or sporadic dilated cardiomyopathy (DCM). There is also increasing recognition that genetic variation is an important determinant of susceptibility to acquired causes of DCM. Genetic forms of DCM can show a wide variety of phenotypic manifestations. Identifying patients who are most likely to benefit from genetic testing is paramount. The objective of this review is to highlight the importance of recognising genetic DCM, key genotype-phenotype correlations and the value of genetic testing in clinical management for both the individual and their family. This is likely to become more relevant as management strategies continue to be refined with genotype-specific recommendations and disease-modifying therapies.
与基因相关的心脏病格局在持续演变。可遗传的基因变异可能是家族性或散发性扩张型心肌病（DCM）的主要病因。人们也越来越认识到，基因变异是DCM后天病因易感性的重要决定因素。DCM的基因形式可表现出多种多样的表型。确定最有可能从基因检测中获益的患者至关重要。本综述的目的是强调识别基因性DCM的重要性、关键的基因型-表型相关性以及基因检测在个体及其家族临床管理中的价值。随着管理策略不断根据基因型特异性建议和疾病修饰疗法进行完善，这一点可能会变得更加重要。
