■长QT综合征（LQTS）是一种心室心肌复极化障碍，其特征是心电图上QT间期延长。它会增加室性心律失常的风险，会导致晕厥或心源性猝死.在这项研究中,我们研究了我们转诊的疑似心律失常综合征患者的基因型-表型关系.
■评估了17例病例及其20名亲属。对17个LQTS相关基因进行下一代测序分析。
■我们在所分析的36位受试者中的26位检测到了具有潜在致病性意义的17个单核苷酸变体（SNV）。KCNH2c.178G>A，KCNQ1c.1768G>A，ANK2c.466A>T，c.1484_1485delCT,在HGMD变异分类数据库中,KCNH2c.1888G>A被报道为致病性或可能致病性。
■目前的研究指出，通过采取家族史和详细检查，早期诊断可以挽救患者及其家人的生命。此外，我们通过双表型患者强调了心律失常综合征的临床异质性.
UNASSIGNED: Long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram. It increases the risk of ventricular arrhythmias, which can cause syncope or sudden cardiac death. In this study, we study the genotype-phenotype relationships of patients referred to us with suspected arrhythmia syndrome.
UNASSIGNED: Seventeen cases and their twenty relatives were evaluated. Next-generation sequencing analysis was performed for 17 LQTS-related genes.
UNASSIGNED: We detected seventeen single nucleotide variants (SNVs) with potential pathogenic significance in 26 of the 36 subjects analyzed. KCNH2 c.172G>A, KCNQ1 c.1768G>A, ANK2 c.4666A>T, c.1484_1485delCT, KCNH2 c.1888G>A were reported as pathogenic or likely pathogenic in HGMD variant classification database.
UNASSIGNED: Current study pointed out that early diagnosis can be life-saving for patients and their families by taking family history and detailed examination. Also, we highlight the clinical heterogeneity of arrhythmia syndrome through a patient with a dual phenotype.
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