Clinic of Cardiac and Vascular Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Santariškių str. 2, LT-08661 Vilnius, Lithuania.
Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu g. 2, LT-08661 Vilnius, Lithuania.
Medicina (Kaunas). 2021 Jul 16;57(7):721. doi: 10.3390/medicina57070721.
Congenital long QT syndrome (LQTS) is a hereditary ion channelopathy associated with ventricular arrhythmia and sudden cardiac death starting from young age due to prolonged cardiac repolarization, which is represented by QT interval changes in electrocardiogram (ECG). Mutations in human ether-à-go-go related gene ( (7q36.1), formerly named ) are responsible for Long QT syndrome type 2 (LQT2). LQT2 is the second most common type of LQTS. A resuscitated 31-year-old male with the diagnosis of LQT2 and his family are described. Sequencing analysis of their genomic DNA was performed. Amino acid alteration p.(Ser631Pro) in gene was found. This variant had not been previously described in literature, and it was found in three nuclear family members with different clinical course of the disease. Better understanding of genetic alterations and genotype-phenotype correlations aids in risk stratification and more effective management of these patients, especially when employing a trigger-specific approach to risk-assessment and individually tailored therapy.
先天性长 QT 综合征（LQTS）是一种遗传性离子通道病，由于心脏复极延长，导致年轻起病的室性心律失常和心源性猝死，心电图（ECG）表现为 QT 间期变化。人类 ether-à-go-go 相关基因（（7q36.1），以前称为 ）的突变导致 2 型长 QT 综合征（LQT2）。LQT2 是第二常见的 LQTS 类型。描述了一位被诊断为 LQT2 的 31 岁男性和他的家人。对他们的基因组 DNA 进行了测序分析。发现了 基因中的氨基酸改变 p.（Ser631Pro）。该变体以前在文献中没有描述过，并且在具有不同疾病临床过程的三个核家族成员中发现。更好地了解遗传改变和基因型-表型相关性有助于对这些患者进行风险分层和更有效的管理，特别是在采用针对触发因素的风险评估和个体化治疗方法时。
