記述言語：英語   出版者・発行元：(一社)日本循環器学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

AIMS: School-based routine screenings of electrocardiograms (ECGs) have been performed upon admission to primary school (PS), junior high school (JHS), and high school (HS) in Japan. Though ECGs with prolonged QT intervals are occasionally found, the role of regular ECG screening tests in identifying long QT syndrome (LQTS) remains to be determined. We investigated the usefulness of the ECG screenings by comparing the results of genetic tests between students who showed QT-prolongation in the screenings and patients with LQTS. METHODS AND RESULTS: We genetically screened 341 students (106 PS, 173 JHS, and 62 HS). Of these, 230 subjects showed QT-prolongation during regular screenings (S-S group), and the other 111 patients were clinically consulted with suspected LQTS by paediatricians (C-C group). Genotype-phenotype relationships were compared between the two groups. The positive rates in the genetic tests were comparable among the two groups; however, symptomatic subjects were significantly fewer in the S-S group than the C-C group (3% vs. 70%). Compared to the genotype-negative subjects, the positive subjects showed significantly longer QTc (P < 0.0001) and more frequently presented LQTS risk scores with ≥3.5 points (P < 0.0001). Lethal arrhythmic events (LAE) occurred only in the C-C group; 18 subjects experienced LAE and 83% of them were found to carry variant(s) in the LQTS-related genes. CONCLUSION: The school-based ECG screenings are effective in identifying young patients with LQTS who require genetic analysis. If individuals are screened at a younger age, we can identify patients at risk earlier and provide preventative treatments.

DOI： 10.1093/europace/euab320

PubMed

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

肺静脈閉塞を合併したFontan術後患者に対する有効な治療法はなく予後は不良である。今回我々はFontan術後に右肺静脈閉塞を来し、多量の胸水、浮腫、心房性不整脈が出現した急性心不全の3歳女児例に対して体肺側副血管と右肺動脈の塞栓後に開窓作成術を行った。体肺側副血管の塞栓は3回のセッションに分けて51本のコイルを使用した。右肺動脈塞栓は計5個のAmplatzer Vascular Plug(AVP)と計2本のコイルを用いて、手技時間は3時間程度で合併症なく完全閉塞できた。その後に開窓作成術を行い、中心静脈圧は閉塞術前の20mmHgから7mmHgへ低下した。手技に伴う合併症はなく、手技時間も短く施行し得た。しかし術後9日目に心タンポナーデを発症し死亡した。過去に肺静脈閉塞を合併したFontan術後症例に対して体肺側副血管と患側の肺動脈を完全に塞栓した報告はない。本治療は一時的に肺静脈閉塞を伴うFontan患者の循環動態を安定させた。(著者抄録)

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

AIMS: Although shortening of the corrected QT interval (QTc) is a key finding in the diagnosis of short QT syndrome (SQTS), there may be overlap of the QTc between SQTS patients and normal subjects in childhood and adolescence. We aimed to investigate electrocardiographic findings for differentiation of SQTS patients. METHODS AND RESULTS: The SQTS group comprised 34 SQTS patients <20 years old, including 9 from our institutions and 25 from previous reports. The control group comprised 61 apparently healthy subjects with an QTc of <360 ms who were selected from 13 314 participants in a school-based screening programme. We compared electrocardiographic findings, including QT and Jpoint-Tpeak intervals (QT and J-Tpeak, respectively), those corrected by using the Bazett's and Fridericia's formulae (cB and cF, respectively) and early repolarization (ER) between the groups. QT, QTc by using Bazett's formula (QTcB), QTc by using Fridericia's formula (QTcF), J-Tpeak, J-Tpeak cB, and J-Tpeak cF were significantly shorter in the SQTS group than in the control group. On receiver operating characteristic curve analysis, the area under the curve (AUC) was largest for QTcB (0.888) among QT, QTcB, and QTcF, with a cut-off value of 316 ms (sensitivity: 79.4% and specificity: 96.7%). The AUC was largest for J-Tpeak cB (0.848) among J-Tpeak, J-Tpeak cB, and J-Tpeak cF, with a cut-off value of 181 ms (sensitivity: 80.8% and specificity: 91.8%). Early repolarization was found more frequently in the SQTS group than in the control group (67% vs. 23%, P = 0.001). CONCLUSION: A QTcB <316 ms, J-Tpeak cB < 181 ms, and the presence of ER may indicate SQTS patients in childhood and adolescence.

DOI： 10.1093/europace/euab097

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記述言語：英語   出版者・発行元：(一社)日本循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Mutations in KCNQ1, KCNH2, and SCN5A are the major cause of long QT syndrome (LQTS). More than 90% of the genotyped patients have been reported to carry mutations in any of these three genes. Thanks to increasing popularity of next generation sequencer (NGS), novel CACNA1C mutations have been identified among LQTS patients without extra-cardiac phenotypes. We aimed to clarify the frequency of genotypes in LQTS patients in the era of NGS. The study comprised 160 congenital LQTS patients (71 males) registered from November 2015 to September 2018. Inclusion criteria was QTc > 460 ms and Schwartz score ≥ 3. We performed genetic analysis using target gene method by NGS and confirmed the mutations by Sanger method. The median age for genetic screening was 13 (0-68) years. Sixteen patients suffered cardiac arrest, 47 syncope, and 97 were asymptomatic. We identified genetic mutations in 111 (69.4%) patients including 6 CACNA1C (5.4% of the genotyped patients) with 4 asymptomatic patients. Five (3.1%) patients carried double mutations; three out of them with RYR2 and KCNQ1 or KCNH2. In conclusion, CACNA1C screening would be recommended even if the patient is asymptomatic to elucidate the genetic background of the LQTS patients.

DOI： 10.1038/s10038-020-0805-z

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Long QT syndrome type 8 (LQT8) is a rare genotype of long QT syndrome. Late-appearing T-waves (LaT) are often documented in patients with LQT8, as in long QT syndrome type 3 (LQT3); however, the frequency of LaT and its relevance to the clinical severity of LQT8 remains unclear. This study investigated T-wave morphology (TWM) in LQT3 and LQT8 patients and compared the phenotypes of different TWMs.Methods and Results:TWMs were classified into 3 types: early onset T-waves (EoT), LaT, and bifid T-waves (biT). Electrocardiogram (ECG) measurements, symptoms, and topology were compared among TWM types. The study cohort comprised 25 patients with LQT8 (14 mutations) and 25 patients with LQT3 (14 mutations). LaT was detected in 17 (68%) and 13 (52%) LQT8 and LQT3 patients, respectively. There were no significant differences in ECG measurements or the severity of symptoms between patients with LaT and those with other TWMs in either the LQT8 or LQT3 group. However, only patients with LaT experienced cardiopulmonary arrest. Compared with the LQT3 group, in the LQT8 group there was a tendency for mutations in patients with LaT to be located in domain-linking regions. CONCLUSIONS: In this study, two-thirds of patients with LQT8 exhibited LaT on ECG, and nearly one-third of those experienced cardiopulmonary arrest. Further investigations are warranted to differentiate between LQT3 and LQT8 in patients exhibiting LaT to optimize therapy.

DOI： 10.1253/circj.CJ-19-1101

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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掲載種別：研究論文（学術雑誌）  

DOI： 10.1253/circj.CJ-18-0984

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Loss-of-function mutations in SCN5A are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated with several inherited arrhythmia syndromes. OBJECTIVE: The purpose of this study was to investigate SCN5A CNVs among BrS probands. METHODS: The study cohort consisted of 151 BrS probands who were symptomatic or had a family history of BrS, sudden death, syncope, or arrhythmic diseases. We performed sequence analysis of SCN5A by the Sanger method. For detecting CNVs in SCN5A, we performed multiplex ligation-dependent probe amplification analysis of the 151 BrS probands. RESULTS: We identified pathogenic SCN5A mutations in 20 probands by the Sanger method. In 140 probands in whom multiplex ligation-dependent probe amplification was successfully performed, 4 probands were found to present different CNVs (deletion in 3 and duplication in 1). Three of them had fatal arrhythmia events; the remaining 1 was asymptomatic but had a family history. Mean age at diagnosis was 23 ± 14 years. All of the baseline 12-lead electrocardiograms showed PQ-interval prolongation. The characteristics of these 4 probands with CNVs were similar to those of the probands with mutations leading to premature truncation of the protein or missense mutations causing peak INa reduction >90%. CONCLUSION: We identified SCN5A CNVs in 2.9% of BrS probands who were symptomatic or had a family history.

DOI： 10.1016/j.hrthm.2018.03.033

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/eurheartj/ehy412

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記述言語：英語  

DOI： 10.1016/j.hrcr.2018.03.003

PubMed

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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掲載種別：研究論文（学術雑誌）  

© 2018, Japanese Circulation Society. All rights reserved. Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) has been often misdiagnosed as long QT syndrome (LQTS) type 1 (LQT1), which phenotypically mimics CPVT but has a relatively better prognosis. Methods and Results: The derivation and validation cohorts consisted of 146 and 21 patients, respectively, all of whom had exercise-or emotional stress-induced cardiac events. In the derivation cohort, 42 and 104 patients were first clinically diagnosed with CPVT and LQTS, respectively. Nine of 104 patient who had initial diagnosis of LQTS were found to carry RYR2 mutations. They were misdiagnosed due to 4 different reasons: (1) transient QT prolongation after cardiopulmonary arrest; (2) QT prolongation after epinephrine test; (3) absence of ventricular arrhythmia after the exercise stress test (EST); and (4) assumption of LQTS without evidence. Based on genetic results, we constructed a composite scoring system by modifying the Schwartz score: replacing the corrected QT interval (QTc) at 4 min recovery time after EST >480 ms with that at 2 min, or with ∆QTc (QTc at 2 min of recovery−QTc before exercise) >40 ms and assigning a score of −1 for ∆QTc <10 ms or documented polymorphic ventricular arrhythmias. This composite scoring yielded 100% sensitivity and specificity for the clinical differential diagnosis between LQT1 and CPVT when applied to the validation cohort. Conclusions: The modified Schwartz score facilitated the differential diagnosis between LQT1 and CPVT.

DOI： 10.1253/circj.CJ-17-1032

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：ELSEVIER SCIENCE BV  

Background: Long QT syndrome (LQTS) presents two clinical phenotypes, congenital and acquired forms. This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes.
Methods: From 1996 to 2014, genetic screening for LQTS probands was performed for five major genes: KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 and 389 probands were found to be mutation carriers. We analyzed the clinical phenotypes of p.His492Tyr carriers in KCNH2.
Results: Heterozygous p.His492Tyr variant was identified in 10 LQTS families. Six probands (mean age, 26 23 years) carried another mutation, and two of six had syncope associated with emotional stress or telephone ringing. The remaining four probands were significantly older at diagnosis (mean age, 42 33 years) and carried no other compound mutations. All the four probands had fatal arrhythmic events in the presence of additional precipitating factors such as culprit drugs in 2, hypokalemia in 1, and bradycardia in 1. The QTc interval of carriers with p.His492Tyr alone was 445 +/- 10 ms and significantly shorter than that in double mutation carriers (481 +/- 40 ms, p = 0.041).
Conclusions: KCNH2 p.His492Tyr variant presented Romano-Ward syndrome in the presence of another mutation and heterozygous carriers had mild phenotypes while even heterozygous carriers should be cared for not to encounter secondary factors because incidental factors could manifest "latent" form of p.His492Tyr heterozygous carriers. (C) 2016 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

DOI： 10.1016/j.jjcc.2016.09.010

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：JAPANESE CIRCULATION SOC  

Background: Mutations in ANK2 have been reported to cause various arrhythmia phenotypes. The prevalence of ANK2 mutation carriers in inherited primary arrhythmia syndrome (IPAS), however, remains unknown in Japanese. Using a next-generation sequencer, we aimed to identify ANK2 mutations in our cohort of IPAS patients, in whom conventional Sanger sequencing failed to identify pathogenic mutations in major causative genes, and to assess the clinical characteristics of ANK2 mutation carriers.
Methods and Results: We screened 535 probands with IPAS and analyzed 46 genes including whole ANK2 exons using a bench-top NGS (MiSeq, Illumina) or performed whole-exome-sequencing using HiSeq2000 (Illumina). As a result, 12 of 535 probands (2.2%, aged 0-61 years, 5 males) were found to carry 7 different heterozygous ANK2 mutations. ANK2-W1535R was identified in 5 LQTS patients and 1 symptomatic BrS and was predicted as damaging by multiple prediction software. In total, as to phenotype, there were 8 LQTS, 2 BrS, 1 IVF, and 1 SSS/AF. Surprisingly, 4/8 LQTS patients had the acquired type of LQTS (aLQTS) and suffered torsades de pointes. A total of 7 of 12 patients had documented malignant ventricular tachyarrhythmias.
Conclusions: Various ANK2 mutations are associated with a wide range of phenotypes, including aLQTS, especially with ventricular fibrillation, representing "ankyrin-B" syndrome.

DOI： 10.1253/circj.CJ-16-0486

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：JAPANESE CIRCULATION SOC  

Background: In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender-and genotype-related differences in prognosis remain unknown in Asian countries.
Methods and Results: The study examined clinical prognosis at age between 1 and 20 years in 496 LQTS patients who were genotyped as either of LQT1-3 (male, n=206). Heterozygous mutations were observed in 3 major responsible genes: KCNQ1 in 271, KCNH2 in 192, and SCN5A in 33 patients. LQTS-associated events were classified into 3 categories: (1) syncope (n=133); (2) repetitive torsade de pointes (TdP, n=3); and (3) cardiopulmonary arrest (CPA, n=4). The risk of cardiac events was significantly lower in LQT1 girls than boys &lt;= 12 years (HR, 0.55), whereas LQT2 female patients &gt;= 13 years had the higher risk of cardiac events than male patients (HR, 4.60). Patients in the repetitive TdP or CPA group included 1 LQT1 female patient, 1 LQT2 male patient, and 5 LQT2 female patients. All LQT2 patients in these groups had TdP repeatedly immediately after the antecedent event. In addition, all 5 female LQT2 patients in these groups had the event after or near puberty.
Conclusions: Female LQT2 children might have repeated TdP shortly after prior events, especially after puberty.

DOI： 10.1253/circj.CJ-15-0933

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：JAPAN SOC INTERNAL MEDICINE  

Congenital long QT syndrome (LQTS) is an important cause of sudden cardiac death in young people without any other structural disease. Mutations in the genes encoding the cardiac ion channels or associated proteins have been shown to result in ion channel dysfunction and thereby causing LQTS. We investigated a Japanese family with LQTS for four generations, with the female family members showing severe symptoms. We performed genetic tests for LQTS-related genes and identified a heterozygous KCNH2 mutation (p.K638del). In the family, the KCNH2 mutation had a very high multigenerational inheritance, and female genotype positives showed more severe phenotypes.

DOI： 10.2169/internalmedicine.55.6014

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記述言語：英語   出版者・発行元：LIPPINCOTT WILLIAMS & WILKINS  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：WILEY-BLACKWELL  

We report on an asymptomatic 10-year-old boy who had a short QT interval (corrected QT interval, 260ms). Short QT syndrome (SQTS) was detected in a school screening program for heart disease and the patient was subsequently diagnosed as having N588K mutation in the KCNH2 gene. Quinidine prolonged the QT interval, but not the QU interval. During treadmill exercise stress test, QT and QU intervals responded differently to heart rate changes, suggesting a mechanoelectrical hypothesis for the origin of the U wave. Although rare, attention should be paid to SQTS, which is associated with potential fatal arrhythmias.

DOI： 10.1111/ped.12308

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：SPRINGER  

Two cases of coronary aneurysm developed in the late period after Kawasaki disease (KD). Case 1 involved a 13-year-old boy who had aneurysms develop after a diagnosis of complete regression. Case 2 involved a 29-year-old man who had a new aneurysm develop after he was older than 20 years. Physicians need to be aware that coronary aneurysms can develop in patients with antecedent KD even after regression or in adulthood.

DOI： 10.1007/s00246-012-0543-x

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：英語   掲載種別：研究発表ペーパー・要旨（国際会議）   出版者・発行元：OXFORD UNIV PRESS  

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記述言語：英語   掲載種別：研究発表ペーパー・要旨（国際会議）   出版者・発行元：OXFORD UNIV PRESS  

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記述言語：英語   掲載種別：研究発表ペーパー・要旨（国際会議）   出版者・発行元：OXFORD UNIV PRESS  

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記述言語：日本語   出版者・発行元：(一社)滋賀県医師会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

症例1:6ヵ月女児。4ヵ月時に心雑音を指摘され、心エコーおよび心臓カテーテル検査で大動脈弁閉鎖症(AR)と診断し、心不全がコントロール不能となった場合に手術を施行する方針とした。しかし、経過観察中に大動脈左室トンネル(ALVT)の疾患概念を知り、改めて心エコーを施行しALVTと診断した。Dual source CTでトンネルの部位を明らかにし、1歳4ヵ月時に心内修復術を施行した。術後経過は良好で、残存シャントはなく、ARの合併も認めず、術後1年半の現在も経過良好である。症例2:16歳女。10歳時に心雑音を指摘され、前医でARの診断のもと経過観察されていたが、徐々に易疲労感が出現した。心エコー、心臓カテーテル検査、Dual source CTでALVTと診断し、心不全の症状を認めたことから閉鎖術を施行した。術後経過は良好であったが、ALVTのshuntが残存し、ARも軽度残存した。易疲労感も残存し、利尿薬とアスピリンで経過観察している。

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記述言語：日本語   出版者・発行元：新潟医学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：新潟医学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：新潟医学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児循環器学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：日本小児感染症学会  

症例は9ヵ月の女児。発熱、嘔吐、傾眠傾向で受診し、Haemophilus influenzae b型による化膿性髄膜炎と診断され、CTRX+MEPNなどによる治療を行った。治療後の抗莢膜多糖体抗体価が感染防御レベル以下であったためアクトヒブを接種した。接種後4週間で長期感染防御レベル以上への上昇を認めた。Hib播種性感染症に罹患した低年齢の児では、再感染の予防のためHibワクチンの接種を行う必要性が示された。(著者抄録)

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記述言語：日本語   出版者・発行元：(株)日本小児医事出版社  

抗HNA1b抗体による新生児同種免疫性好中球減少症の1例を経験したので報告する。日齢1の女児で赤血球増多症を疑い血液検査をしたところ好中球減少を指摘され、精査のため当科に入院した。両親ともに生来健康であったが、1歳の姉が新生児期にMRSAの皮膚感染症のため入院し治療を受けていた。本患児について、日齢20に行った検査で母親および児の血清から抗HNA1b抗体が検出され、新生児同種免疫性好中球減少症と診断した。日齢28からST合剤の予防内服を開始した。経過中に明らかな感染症は認められず、好中球数は約3ヵ月で自然に増加した。新生児期に好中球減少症を認める症例については、治療法の選択や予後を予測するうえで、本疾患を鑑別することが必要であると考えられた。(著者抄録)

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記述言語：日本語   出版者・発行元：新潟医学会  

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記述言語：日本語   出版者・発行元：新潟医学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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