Lee Han-Chih Hencher, Ching Chor-Kwan
Department of Pathology, Princess Margaret Hospital, Hong Kong.
Clin Biochem Rev. 2019 Nov;40(4):187-200. doi: 10.33176/AACB-19-00030.
Genetic testing has an increasingly important role in the diagnosis and management of cardiac disorders, where it confirms the diagnosis, aids prognostication and risk stratification and guides treatment. A genetic diagnosis in the proband also enables clarification of the risk for family members by cascade testing. Genetics in cardiac disorders is complex where epigenetic and environmental factors might come into interplay. Incomplete penetrance and variable expressivity is also common. Genetic results in cardiac conditions are mostly probabilistic and should be interpreted with all available clinical information. With this complexity in cardiac genetics, testing is only indicated in patients with a strong suspicion of an inheritable cardiac disorder after a full clinical evaluation. In this review we discuss the genetics underlying the major cardiomyopathies and channelopathies, and the practical aspects of diagnosing these conditions in the laboratory.
基因检测在心脏疾病的诊断和管理中发挥着越来越重要的作用，它能确诊疾病、辅助预后评估和风险分层，并指导治疗。先证者的基因诊断还可通过级联检测明确家庭成员的患病风险。心脏疾病的遗传学较为复杂，表观遗传和环境因素可能相互作用。不完全外显和可变表达也很常见。心脏疾病的基因检测结果大多具有概率性，应结合所有可用的临床信息进行解读。鉴于心脏遗传学的这种复杂性，只有在经过全面临床评估后，高度怀疑患有遗传性心脏疾病的患者才适合进行检测。在本综述中，我们将讨论主要心肌病和离子通道病的遗传学基础，以及在实验室诊断这些疾病的实际操作。
