Galati Francesca, Galati Antonio, Massari Serafina
Department of Biological and Environmental Sciences and Technologies, University of Salento, 73100 Lecce, Italy.
Department of Cardiology, "Card. G. Panico" Hospital, Tricase, 73039 Lecce, Italy.
Cardiol Res Pract. 2016;2016:2868604. doi: 10.1155/2016/2868604. Epub 2016 Jan 20.
Ventricular arrhythmias are one of the most common causes of death in developed countries. The use of implantable cardiac defibrillators is the most effective treatment to prevent sudden cardiac death. To date, the ejection fraction is the only approved clinical variable used to determine suitability for defibrillator placement in subjects with heart failure. The purpose of this study was to assess whether genetic polymorphisms found in the ryanodine receptor type 2 (Q2958R) and histidine-rich calcium-binding protein (S96A) might serve as markers for arrhythmias. Genotyping was performed in 235 patients treated with defibrillator for primary and secondary prevention of arrhythmias. No significant association was found between the S96A polymorphism and arrhythmia onset, whereas the QQ2958 genotype in the ryanodine receptor gene was correlated with an increased risk of life-threatening arrhythmias. Concurrent stressor conditions, such as hypertension, seem to increase this effect. Our findings might help to better identify patients who could benefit from defibrillator implantation.
在发达国家，室性心律失常是最常见的死亡原因之一。植入式心脏除颤器的使用是预防心源性猝死最有效的治疗方法。迄今为止，射血分数是唯一被批准用于确定心力衰竭患者是否适合植入除颤器的临床变量。本研究的目的是评估在2型兰尼碱受体（Q2958R）和富含组氨酸的钙结合蛋白（S96A）中发现的基因多态性是否可作为心律失常的标志物。对235例接受除颤器治疗以进行心律失常一级和二级预防的患者进行了基因分型。未发现S96A多态性与心律失常发作之间存在显著关联，而兰尼碱受体基因中的QQ2958基因型与危及生命的心律失常风险增加相关。并发应激源状况，如高血压，似乎会增强这种影响。我们的研究结果可能有助于更好地识别可从除颤器植入中获益的患者。
