Rangaraju Advithi, Krishnan Shuba, Aparna G, Sankaran Satish, Mannan Ashraf U, Rao B Hygriv
KIMS Foundation and Research Centre, Minister Road, Secunderabad, Telangana, India.
STRAND Life Sciences, Bangalore, India.
Indian Pacing Electrophysiol J. 2018 May-Jun;18(3):91-94. doi: 10.1016/j.ipej.2018.01.003. Epub 2018 Feb 1.
Electrical storm (ES) is a life threatening clinical situation. Though a few clinical pointers exist, the occurrence of ES in a patient with remote myocardial infarction (MI) is generally unpredictable. Genetic markers for this entity have not been studied. In the present study, we carried out genetic screening in patients with remote myocardial infarction presenting with ES by next generation sequencing and identified 25 rare variants in 19 genes predominantly in RYR2, SCN5A, KCNJ11, KCNE1 and KCNH2, CACNA1B, CACNA1C, CACNA1D and desmosomal genes - DSP and DSG2 that could potentially be implicated in electrical storm. These genes have been previously reported to be associated with inherited syndromes of Sudden Cardiac Death. The present study suggests that the genetic architecture in patients with remote MI and ES of unstable ventricular tachycardia may be similar to that of Ion channelopathies. Identification of these variants may identify post MI patients who are predisposed to develop electrical storm and help in risk stratification.
电风暴（ES）是一种危及生命的临床情况。尽管存在一些临床指标，但既往有心肌梗死（MI）的患者发生ES通常不可预测。尚未对该疾病的遗传标志物进行研究。在本研究中，我们通过下一代测序对既往有心肌梗死且发生ES的患者进行了基因筛查，在19个基因中鉴定出25个罕见变异，主要存在于兰尼碱受体2（RYR2）、钠通道蛋白5A（SCN5A）、内向整流钾通道蛋白11（KCNJ11）、钾通道蛋白E1（KCNE1）、钾通道蛋白H2（KCNH2）、L型钙通道α1亚基B（CACNA1B）、L型钙通道α1亚基C（CACNA1C）、L型钙通道α1亚基D（CACNA1D）以及桥粒基因——桥粒斑蛋白（DSP）和桥粒芯糖蛋白2（DSG2）中，这些基因可能与电风暴有关。这些基因此前已被报道与遗传性心源性猝死综合征相关。本研究表明，既往有心肌梗死且出现不稳定室性心动过速电风暴的患者的遗传结构可能与离子通道病相似。鉴定这些变异可能有助于识别心肌梗死后易发生电风暴的患者，并有助于进行风险分层。
