Heart Research Follow-up Program, University of Rochester Medical Center, Rochester, NY 14642, USA.
Curr Cardiol Rep. 2011 Oct;13(5):364-76. doi: 10.1007/s11886-011-0209-y.
Advances in genetic testing technology have led to a proliferation of new genetic tests and accelerated developments in the field of cardiovascular genetic medicine. These advances enhance presymptomatic diagnosis and can establish a definitive molecular diagnosis for symptomatic patients at risk for sudden cardiac death. Most importantly, genotype-phenotype correlations can add important information for predicting outcome and selecting treatment for patients with inherited arrhythmic disorders. This paper reviews the current data regarding genotype-phenotype correlations and the role of clinical genetic testing in diagnosis, prognosis, and management of inheritable disorders leading to sudden cardiac death.
遗传检测技术的进步导致新的遗传检测呈指数式增长，推动了心血管遗传医学领域的快速发展。这些进步增强了症状前诊断能力，并能为有发生心源性猝死风险的症状患者提供明确的分子诊断。最重要的是，基因型-表型相关性可为预测遗传性心律失常患者的预后和选择治疗方法提供重要信息。本文综述了基因型-表型相关性的现有数据，以及临床遗传检测在导致心源性猝死的遗传性疾病的诊断、预后和管理中的作用。
