Cardio Genomics Program at Centenary Institute, The University of Sydney, Locked Bag 6, Newtown, NSW, 2042, Australia.
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Curr Cardiol Rep. 2021 Jan 12;23(2):9. doi: 10.1007/s11886-020-01437-4.
Our knowledge of the genetic basis and molecular pathogenesis of hypertrophic cardiomyopathy (HCM) continues to evolve. We describe the genetic basis of HCM, recent advances in genetic testing and the role of genetics in guiding risk stratification and management, both now and in the future.
While initially thought to be an exclusively Mendelian disease, we now know there are important HCM sub-groups. A proportion will have sarcomere variants as the cause of their disease, while others will have genetic variants in genes that can give rise to conditions that can mimic HCM. The role of genetics is primarily for cascade genetic testing, though there is emerging evidence of a role for prognosis and patient management. Genetic testing is a useful addition to management. Genotype may play a greater role in risk stratification, management, treatment and prognosis in future, offering improved outcomes for patients and their families with HCM.
肥厚型心肌病（HCM）的遗传基础和分子发病机制的相关知识不断发展。我们将介绍 HCM 的遗传基础、遗传检测的最新进展以及遗传学在指导风险分层和管理中的作用，包括现在和未来的作用。
虽然最初被认为是一种纯粹的孟德尔疾病，但我们现在知道存在重要的 HCM 亚组。一部分患者的疾病是由肌节变异引起的，而其他患者的基因中则存在可导致类似于 HCM 的疾病的基因变异。遗传学的主要作用是进行级联遗传检测，尽管有证据表明遗传学在预后和患者管理方面也有一定作用。遗传检测是管理的有益补充。基因型可能在未来的风险分层、管理、治疗和预后中发挥更大的作用，为 HCM 患者及其家属提供更好的治疗效果。
