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Rare genetic mutations associated with long qt syndrome in Hong Kong chinese patients
Oscar Hou In Chou1, Jeremy Man Ho Hui1, Yan Hiu Athena Lee1, Simon Siyuan Li1, Keith Sai Kit Leung1, Teddy Tai Loy Lee1, Leonardo Roever1, Yunlong Xia2, Qiang Liu3, Sharen Lee1, Gary Tse1, Khalid Bin Waleed4
1 Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Hong Kong, China
2 Department of Cardiology, The First Affiliated Hospital of Dalian Medical University, Dalian, China
3 Department of Cardiology, Shenzhen Traditional Chinese Medicine Hospital, Shenzhen, China
4 Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Hong Kong, China; Department of Cardiology, The First Affiliated Hospital of Dalian Medical University, Dalian, China; Department of Cardiology, St George's University Hospitals NHS Foundation Trust, London, United Kingdom
Correspondence Address:
Gary Tse,
Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Laboratory of Cardiovascular Physiology, Hong Kong
China
Sharen Lee,
Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Hong Kong
China
 Source of Support: None, Conflict of Interest: None
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Congenital long QT syndrome (LQTS) is a type of cardiac ion channelopathy that increases the susceptibility of the affected individuals to spontaneous ventricular tachycardia/fibrillation or even sudden cardiac death. More than 17 subtypes have been identified. This was a systematic review of the published case series or reports on the clinical characteristics, genetic basis, and patient outcomes from Hong Kong with rare genetic variants of LQTS which fall outside the traditional LQTS classification system. PubMed and Zenodo were searched from the corresponding inception until January 15, 2022. Twenty-four studies were identified. Of these, one article met the inclusion criteria. The article included a case series of six patients from a cohort with 134 patients. They had either asymptomatic LQTS with HCN4 mutations (n = 1, c.1471G>A, QTc: 420 ms with prolonged QTc of 670 ms during the recovery phase of treadmill test), RYR2 (n = 1, c.7060G>A, QTc: 480 ms) or SCN10A (n = 2, c.3542C>T, QTc: 439 ms–480 ms), or LQTS with multiorgan syndromes with GATA3 mutations (n = 1, c. 815C>T, Barakat syndrome: Sensorineural deafness, hypoparathyroidism, and renal disease, QTc: 450–489 ms), or SLC6A8 (n = 1, c.691_693del; X-linked creatine transporter deficiency, with c.6065A>G mutation in AKAP9, known modifier of LQTS; QTc: 485 ms). In addition, rare genetic variants in non-LQTS causative genes were identified. Future studies should be conducted to compare the variants and investigate their functional consequences.
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