遗传性J波综合征与健康青壮年心脏性猝死关系密切，但高危人群难以甄别，家族遗传规律不明确。在前期工作基础上，我们拟以人群为基础，开展J波综合征的遗传流行病学研究：1）进行J波综合征的流行病学现场调查，分析遗传性J波综合征人群患病率及其发生晕厥和心脏性猝死的风险；2）通过对家系成员已知致病基因测序，揭示其临床亚型与致病基因/突变位点的对应关系，阐明家族遗传规律，以期发现新的突变位点；3）建立遗传性J波综合征病例队列并随访，结合临床资料与随访结果，探讨其基因型、临床亚型与预后之间的关系。研究结果将为有效预防遗传性J波综合征心脏性猝死提供流行病学资料。

Inherited J wave syndrome is one of the major causes of sudden cardiac death in healthy young adults. However, it is difficult to identify the high risk population with Inherited J wave syndrome and its rule of inheritance remains unclear. In this study, based on our previous study, the population-based genetic epidemiological investigation of J wave syndrome will be performed: 1) To analyze the mortality of inherited J wave syndrome and the risk of syncope and sudden cardiac death in such patients, the epidemiological investigation will be conducted on the spot. 2) To explore the association between the subtype of inherited J wave syndrome and the disease-causing genes and mutations, discover the inheritance pattern and novel gene mutations, all identified disease-causing genes of all pedigree members will be sequenced. 3) To explore the relationship among the gene mutations, clinical subtypes and prognosis of inherited J wave syndrome, the followed-up case cohort study data, ECG/UCG information and sequencing data will be combined and analyzed together. This study will provide the epidemiologic data for the effective prevention of sudden cardiac death in patients with inherited J wave syndrome.