<International Circulation>: What are the updates and new recommendations for the risk stratification in the latest publishedHRS / EHRA / APHRSfor Diagnosis and Management of Inherited Arrhythmias?Compared with the previous guidelines， what key changes have the new guidelines done for the Diagnosis and Management of Inherited Arrhythmias?

　　Prof. Priori: I think the most important things that I highlight in my presentation are that， for long QT syndrome， the new guidelines recommend more careful diagnosis， especially if the patient has a mild prolongation of the QT interval. Just be sure before diagnosing the disease that the QT prolongation is present over time， not just as a one-time observation. The other important thing is to be sure that the patient is not taking medication that prolongs the QT interval， because that symptom could be not genetic prolongation.

　　One of the most important recommendations for management in these patients is found when considering the complication of the use of ICD in young people， especially children and adolescents. As such， there is a strong recommendation to implant only after beta-blockers have failed. But in patients who have survived a cardiac arrest， the ICD should be the first line of treatment， combined with a beta-blocker. For patients with Brugada syndrome， there are quite a few important new diagnostic criteria.

　　The most important one is that we need to record lead B2 and B3 not only at the fourth intercostal space but also by lifting them one or two intercostal spaces above the standard position. If the ST segment elevation is present even in only one lead， we can diagnose the disease. As you can imagine， it means that more people would be diagnosed with this condition， and if you match the fact that we would have more diagnoses with the fact that we have no therapy， we need to be careful not to implant too many defibrillators. So the recommendation for re-stratification is that only the patients who have spontaneous patterns， an abnormality that is clearly visible， and a previous syncopal episode likely to be caused by an arrhythmia (to clarify the differential diagnosis: something that is not vasovagal)， than only these patients really require a defibrillator.

　　For CPVT， I think the most important recommendation is to perform the exercise stress test for diagnosis and for therapy again， to use beta-blockers as the first line. If beta-blockers fail， add a sodium channel blocker. If the sodium channel blockers fail， than it’s time to put the patient on ICD.

　　《国际循环》：2013年最新公布的HRS/EHRA/APHRS有关遗传性心律失常的诊疗指南对该病的危险分层作了怎样的更新与推荐？与既往指南相比，新指南对遗传性心律失常的诊疗推荐方面有哪些新的变化？

　　Priori教授：我的讲座中提到了最重要的信息就是，指南推荐应更仔细地诊断长QT综合征，尤其是当患者的QT间期仅轻度延长时。同时，在诊断该病前应确保QT间期延长时持续存在的而非一次性观察的结果。还有一件重要的事情就是要确保患者没有服用可使QT间期延长的药物。长QT综合征患者管理的最重要推荐就是在年轻患者尤其是儿童及青少年患者中应用ICD时应考虑其并发症问题。因此，强烈建议仅在β受体阻滞剂治疗无效时植入ICD。但是对于心脏骤停幸存者而言，则应将ICD作为一线治疗方法，并与β受体阻滞剂联用。Brugada综合征患者目前有很多新的诊断标准。其中最重要的一个就是我们不仅要记录V2及V3导联，还需提高一到两个肋间的心电图。只要有一个导联存在ST段抬高，则可以诊断该病。毫无疑问，这将意味着会有更多的人被确诊为Brugada综合征，但却未得到治疗。因此，我们需要小心，不要植入过多的除颤器。因此，推荐对患者进行重新分层，仅既往有因心律失常所致的晕厥发作史的存在明显异常的自发性患者需要应用除颤器。就CPVT而言，我认为最重要的推荐就是开展运动负荷试验进行诊断，应用β受体阻滞剂作为一线治疗。若β受体阻滞剂治疗无效，则可加用钠离子通道阻滞剂。若还无效，则可应用ICD。

　　<International Circulation>: You mentioned you would like to mention the genetic background of these diseases in a bit more detail.

　　Prof. Priori: Yes. The genetic testing is something very useful and helpful for clinicians. It can confirm a suspected diagnosis. In long QT syndrome， the genetics are quite advanced. We have 14 genes that cause this disease， but three are the key genes， and they all produce proteins that make ion channels. Therefore， there is one gene that encodes for the protein that makes potassium channel; a second that encodes for cardiac sodium channel and a third is a different potassium channel. With screening these three genes， one could genotype up to 90% of the patients with long QT syndrome， a very successful yield.

　　For Brugada syndrome， the situation is just the opposite. The most important genes encode for the sodium channel and cardiac channel in the heart， but the yield of genotyping is only about 30%. So we still have to discover many genes for Brugada syndrome. In CPVT， the situation is again different. Here， we have one gene， ion calcium receptor， which regulates intracellular calcium， and accounts for approximately 70% of the cases. Thus， physicians need to have in mind that， especially for long QT and CPVT syndrome， it’s very cost effective to try and get access to genetic testing for their patients.

　　《国际循环》：您提到您想更详细地介绍一下这些疾病的遗传背景。

　　Priori教授：是的，基因检测对临床医生而言是非常有用和有帮助的，其能确诊可疑诊断。长QT间期综合征的遗传学相当先进。我们已经发现了14个可导致该病的基因，其中3个为关键基因，这些基因编码离子通道的相关蛋白。其中有一个是编码钾离子通道蛋白的基因，另一个是编码钙离子通道蛋白的基因，还有一个是编码另一种钾离子通道蛋白的基因。对上述三种关键基因进行筛查后，可成功对90%的长QT间期综合征患者进行基因分型。就Brugada综合征而言，情况正好相反。最重要的基因是编码心脏中钠离子通道和心脏通道的基因，其分型率仅为30%左右。因此，我们仍需寻找更多与Brugada综合征发病相关的基因。就CPVT而言，情况又有所不同。我们已经发现一种钙离子受体基因，能够调节细胞内钙离子，可识别仅70%的患者。因此，就长QT综合征及CPVT综合征而言，对患者进行基因检测是非常有成本效益，值得尝试的。