A Common Mutation of Long QT Syndrome Type 1 in Japan

Itoh, Hideki; Dochi, Kenichi; Shimizu, Wataru; Denjoy, Isabelle; Ohno, Seiko; Aiba, Takeshi; Kimura, Hiromi; Kato, Koichi; Fukuyama, Megumi; Hasagawa, Kanae; Schulze‐Bahr, Eric; Guicheney, Pascale; Horie, Minoru

doi:10.1253/circj.cj-15-0342

Cited by 14 publications

(11 citation statements)

References 26 publications

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“…Two out of 4 LQT1 patients had mutation of A341V, reported as severe phenotype. 16 On the other hand, LQT3 patients except for those with the specific mutations of SCN5A (E1784K, Y1795C) were symptomatic ( Table 3). Figure 1 shows the change in QTc interval in V5 after mexiletine infusion in LQT1, LQT2 and LQT3 patients, demonstrating that mexiletine shortened QTc interval more in LQT3 compared with LQT1 and LQT2.…”

Section: Resultsmentioning

confidence: 99%

Pronounced Shortening of QT Interval With Mexiletine Infusion Test in Patients With Type 3 Congenital Long QT Syndrome

Funasako

Aiba

Ishibashi

et al. 2016

Circ J

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Section: Resultsmentioning

confidence: 99%

Pronounced Shortening of QT Interval With Mexiletine Infusion Test in Patients With Type 3 Congenital Long QT Syndrome

Funasako

Aiba

Ishibashi

et al. 2016

Circ J

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“…This suggests that these two rare variants could be pathogenic. The mutation in the third patient was caused by splicing error, and is one of the most common LQTS type 1 mutations in Japan …”

Section: Discussionmentioning

confidence: 99%

“…The mutation in the third patient was caused by splicing error, 6 and is one of the most common LQTS type 1 mutations in Japan. 7 The majority of reported VVS patients are >10 years old (mean age, 12.7 AE 3.3 years), but the minimum reported age is 4 years. 4 Thus, VVS could not be excluded in the present cases on age.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of congenital long QT syndrome and autonomic dysregulation in children

Ogawa

Aiba

Kamei

et al. 2016

Pediatrics International

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Loss of consciousness (LOC) in long QT syndrome (LQTS) patients can be caused by torsade de pointes (TdP) or vasovagal syncope (VVS). On genetic testing and head-up tilt testing (HUTT), we diagnosed three young patients with both genotyped LQTS and autonomic dysregulation. According to grade of prolongation of QT interval and LOC status, syncope episodes in two patients were classified as due to VVS, while those of the other patient were due to TdP. We also diagnosed one patient with postural orthostatic tachycardia syndrome. Syncope in LQTS patients should not automatically be labeled TdP. If there is a possibility of VVS, HUTT should be performed, but careful observation is required because TdP cannot be completely ruled out.

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“…The contribution of p.His492Thy variant to LQTS may be considered only in specific countries, particularly in Japan, because this variant was seldom seen in normal or LQTS cohorts based in Europe [13,34] and the USA [35]. We need to take account of the underlying genetics in each country [36].…”

Section: Limitationsmentioning

confidence: 99%

Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano–Ward syndrome under double mutations and acquired long QT syndrome under heterozygote

Fujii

Matsumoto

Hayashi

et al. 2017

Journal of Cardiology

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Long QT syndrome (LQTS) is an inherited arrhythmic disease with prolongation of QT interval on the electrocardiogram and fatal cardiac arrhythmia, called torsade de pointes (TdP) [1,2]. The typical LQTS is a congenital form with TdP of the onset induced by autonomic activity, e.g. exercise in LQTS type 1 (LQT1) or emotion and unexpected noise in LQTS type 2 (LQT2) [3]. To date, a variety of mutations were reported in 15 candidate genes responsible for congenital LQTS [2]. On the other hand, another form of LQTS, acquired LQTS, is caused by secondary factors, e.g. hypokalemia [4], drugs [5,6], or bradycardia [7]. Although acquired LQTS presents no or mild phenotypes with normal to borderline QT prolongation in the absence of secondary factors, this form may carry a mutation underlying the LQTS-related candidate genes (silent mutation carriers) [5,8-13].

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A Common Mutation of Long QT Syndrome Type 1 in Japan

Cited by 14 publications

References 26 publications

Pronounced Shortening of QT Interval With Mexiletine Infusion Test in Patients With Type 3 Congenital Long QT Syndrome

Pronounced Shortening of QT Interval With Mexiletine Infusion Test in Patients With Type 3 Congenital Long QT Syndrome

Coexistence of congenital long QT syndrome and autonomic dysregulation in children

Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano–Ward syndrome under double mutations and acquired long QT syndrome under heterozygote

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