Swan Heikki
HYKS, Meilahden Sairaala, Sydäntutkimusossasto.
Duodecim. 2012;128(9):937-44.
Recent international expert group recommendations for gene tests of myocardial or conducting system diseases as well as those concerning molecular genetic investigations of persons resuscitated after cardiac arrest or victims of sudden death are summarized. Systematic examination of an index patient forms the basis for correct clinical diagnosis and is a prerequisite for successful genetic testing. The first-degree relatives of victims of unexplained sudden death should be referred to clinical assessment due to the possibility of an inherited heart disease. Genetic testing of sudden death victims should be performed more frequently than previously, but targeting of the tests must be done on the basis of clinical data.
本文总结了近期国际专家组关于心肌或传导系统疾病基因检测的建议,以及对心脏骤停复苏者或猝死受害者进行分子遗传学调查的相关建议。对索引患者进行系统检查是正确临床诊断的基础,也是成功进行基因检测的前提条件。由于存在遗传性心脏病的可能性,不明原因猝死受害者的一级亲属应接受临床评估。猝死受害者的基因检测应比以前更频繁地进行,但检测的针对性必须基于临床数据。