Louis Clauden, Calamaro Emily, Vinocur Jeffrey M
Department of Surgery.
Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Curr Opin Cardiol. 2018 Jan;33(1):78-86. doi: 10.1097/HCO.0000000000000477.
The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use.
Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing.
Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.
现代临床遗传学领域已超越大多数执业心脏病专家所熟悉的传统知识。对基因检测作用的更多了解可能会提高其应用率和应用的合理性。
临床遗传学已成为遗传性心律失常和心肌病患者管理中不可或缺的一部分。根据具体病情，基因检测可能有助于诊断、预后评估、治疗、家族筛查和生育计划。然而，基因检测是一种强大的工具，存在使用不足、过度使用和滥用的可能性。由于缺乏大量关于这些指南如何在临床实践中应用的文献，我们采用基于案例的方法来突出关键经验教训和陷阱。重要的是，在许多情况下，基因检测已成为众多I类推荐支持的标准治疗方法；遗传咨询师可以提高检测的可及性以及合理使用和应用。
遗传性心律失常和心肌病的最佳管理包括根据共识指南进行基因检测，并由多学科团队参与。
