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Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations / 中华医学杂志(英文版)
Chinese Medical Journal ; (24): 1482-1486, 2014.
Article in English | WPRIM | ID: wpr-322243
ABSTRACT
<p><b>BACKGROUND</b>Congenital long QT syndrome (LQTS) is an ion channelopathy associated with genetic mutations. It is well known that most LQTS patients (91%) have a single mutation. The purpose of this study was to investigate the clinical characteristics of congenital LQTS patients with bigenic mutations in Taiwan, China.</p><p><b>METHODS</b>Congenital LQTS patients were recruited consecutively at Taiwan University Hospital in Taiwan from 2003 to 2009. The diagnosis of LQTS was defined by an LQTS Schwartz score greater than 4. Mutation screening in KCNQ1, KCNH2, KCNE1, and SCN5A was performed using direct sequencing.</p><p><b>RESULTS</b>Three of 16 LQTS patients (18.7%) were identified with bigenic mutations. One patient had missense mutations in KCNQ1 and KCNH2, the second in KCNQ1 and KCNE1, and the third in KCNH2 and SCN5A. The mean age at onset of LQTS for patients with bigenic mutations was (17 ± 3) years, and all of these patients were female. Two of them experienced seizure and one presented with syncope, although one of them had a family history of syncope. The mean QTc interval was (515 ± 17) ms, similar to those with single mutation or SNPs ((536 ± 74) ms, P = 0.63). Compared to those LQTS patients with single mutation or SNPs, a significantly higher percentage of LQTS patients with bigenic mutations presented with seizure and were younger at onset of the first index event (P = 0.03 and 0.001, respectively), but lower percentage of them presented with sudden cardiac death (P = 0.03).</p><p><b>CONCLUSIONS</b>Although the percentage of bigenic mutations in LQTS is less than 10% in Caucasian populations, we identified 3 of 16 LQTS patients (18.7%, 95% confidence interval 0.04-0.46) with bigenic mutations in Taiwan. However, the severity of their clinical presentations was not higher than those patients with single mutation or SNPs.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pathology / Long QT Syndrome / Polymorphism, Single Nucleotide / Potassium Channels, Voltage-Gated / KCNQ1 Potassium Channel / Ether-A-Go-Go Potassium Channels / ERG1 Potassium Channel / Genetics / Genotype / Mutation Type of study: Prognostic study Limits: Adolescent / Adult / Aged / Female / Humans / Male Language: English Journal: Chinese Medical Journal Year: 2014 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pathology / Long QT Syndrome / Polymorphism, Single Nucleotide / Potassium Channels, Voltage-Gated / KCNQ1 Potassium Channel / Ether-A-Go-Go Potassium Channels / ERG1 Potassium Channel / Genetics / Genotype / Mutation Type of study: Prognostic study Limits: Adolescent / Adult / Aged / Female / Humans / Male Language: English Journal: Chinese Medical Journal Year: 2014 Type: Article