p.107 抽出テキスト

88 Shalaby FY, Levesque PC, Yang WP, et al. Dominant-negative

KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 1997; 96: 1733-1736. PMID: 9323054 89. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001; 103: 89-95. PMID: 11136691 90. Zareba W, Moss AJ, Locati EH, et al. International Long QT Syndrome Registry. Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol 2003; 42: 103-109. PMID: 12849668 91. Nakajima T, Furukawa T, Tanaka T, et al. Novel mechanism of HERG current suppression in LQT2: shift in voltage dependence of HERG inactivation. Circ Res 1998; 83: 415-422. PMID: 9721698 92. Wilde AA, Jongbloed RJ, Doevendans PA, et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1). J Am Coll Cardiol 1999; 33: 327-332. PMID: 9973011 93. Seth R, Moss AJ, McNitt S, et al. Long QT syndrome and pregnancy. J Am Coll Cardiol 2007; 49: 1092-1098. PMID: 17349890 94. Ishibashi K, Aiba T, Kamiya C, et al. Arrhythmia risk and β -blocker therapy in pregnant women with long QT syndrome. Heart 2017; 103: 1374-1379. PMID: 28292826 95. Amin AS, Herfst LJ, Delisle BP, et al. Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. J Clin Invest 2008; 118: 2552-2561. PMID: 18551196 96. Nakajima T, Kaneko Y, Kurabayashi M. Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes. Circ J 2015; 79: 1185-1192. PMID: 25925977 97. Usuda K, Hayashi K, Nakajima T, et al. Mechanisms of feverinduced QT prolongation and torsades de pointes in patients with KCNH2 mutation. Europace 2023; 25: euad161. PMID: 37386841 98. Haugaa KH, Vestervik TT, Andersson S, et al. Abnormal electroencephalograms in patients with long QT syndrome. Heart Rhythm 2013; 10: 1877-1883. PMID: 24080067 99. Anderson JH, Bos JM, Cascino GD, et al. Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome. Heart Rhythm 2014; 11: 53-57. PMID: 24103226 100. Makita N, Shirai N, Nagashima M, et al. A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. FEBS Lett 1998; 423: 5-9. PMID: 9506831 101. Makita N, Behr E, Shimizu W, et al. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 2008; 118: 2219-2229. PMID: 18451998 102. Mazzanti A, Guz D, Trancuccio A, et al. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1. J Am Coll Cardiol 2020; 75: 1772-1784. PMID: 32299589 103. Kimura H, Zhou J, Kawamura M, et al. Phenotype variability in patients carrying KCNJ2 mutations. Circ Cardiovasc Genet 2012; 5: 344-353. PMID: 22589293 104. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome. Cell 2001; 105: 511-519. PMID: 11371347 105. Splawski I, Timothy KW, Sharpe LM, et al. CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119: 19-31. PMID: 15454078 106. Boczek NJ, Best JM, Tester DJ, et al. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet 2013; 6: 279-289. PMID: 23677916 107. Nakajima T, Kawabata-Iwakawa R, Tamura S, et al. Novel CACNA1C R511Q mutation, located in domain I-II linker, causes non-syndromic type-8 long QT syndrome. PLoS One 2022; 17: e0271796. PMID: 35862440 108. Fukuyama M, Wang Q, Kato K, et al. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace 2014; 16: 1828-1837. PMID: 24728418 109. Hussey JW, Limpitikul WB, Dick IE. Calmodulin Mutations in Human Disease. Channels (Austin) 2023; 17: 2165278. PMID: 36629534 110. Limpitikul WB, Dick IE, Joshi-Mukherjee R, et al. Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca2+ currents and promote proarrhythmic behavior in ventricular myocytes. J Mol Cell Cardiol 2014; 74: 115-124. PMID: 24816216 111. Yamamoto Y, Makiyama T, Harita T, et al. Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. Hum Mol Genet 2017; 26: 1670-1677. PMID: 28335032 112. McCormick L, Wadmore K, Milburn A, et al. Long QT syndrome-associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel. J Physiol 2023; 601: 3739-3764. PMID: 37428651 113. Nyegaard M, Overgaard MT, Søndergaard MT, et al. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet 2012; 91: 703-712. PMID: 23040497 114. Crotti L, Johnson CN, Graf E, et al. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 2013; 127: 1009-1017. PMID: 23388215 115. Makita N, Yagihara N, Crotti L, et al. Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet 2014; 7: 466-474. PMID: 24917665 116. Marsman RF, Barc J, Beekman L, et al. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol 2014; 63: 259-266. PMID: 24076290 117. Reed GJ, Boczek NJ, Etheridge SP, et al. CALM3 mutation associated with long QT syndrome. Heart Rhythm 2015; 12: 419-422. PMID: 25460178 118. Kato K, Isbell HM, Fressart V, et al. Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family. Circ Arrhythm Electrophysiol 2022; 15: e010572. PMID: 35225649 119. Itoh H, Shimizu W, Hayashi K, et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm 2010; 7: 1411-1418. PMID: 20541041 120. Nagata Y, Watanabe R, Eichhorn C, et al. Targeted deep sequencing analyses of long QT syndrome in a Japanese population. PLoS One 2022; 17: e0277242. PMID: 36480497 121. Hirose S, Murayama T, Tetsuo N, et al. Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome. Europace 2022; 24: 497-510. PMID: 34661651 122. Taniguchi Y, Miyazaki A, Sakaguchi H, et al. Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene. Heart Vessels 2017; 32: 229-233. PMID: 27401738 123. Hasegawa H, Tamura S, Nakajima T, et al. Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant. Int Heart J 2024; 65: 580-585. PMID: 38825499 124. 日本循環器学会,日本不整脈心電学会.2022 年改訂版 不整脈の診断とリスク評価に関するガイドライン.https://www.j-circ.or.jp/cms/ wp-content/uploads/2022/03/JCS2022_Takase.pdf 125. Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation 2011; 124: 2181- 2184. PMID: 22083145 126. 日本循環器学会,日本小児循環器学会.2025 年 JCS/JSPCCS ガイドライン フォーカスアップデート版 学校心臓検診.https://www.j-circ.

or.jp/cms/wp-content/uploads/2025/03/JCS2025_Iwamoto.pdf 127. Vink AS, Neumann B, Lieve KVV, et al. Determination and Interpretation of the QT Interval. Circulation 2018; 138: 2345-2358. PMID: 30571576 128. Postema PG, Wilde AA. The measurement of the QT interval. Curr Cardiol Rev 2014; 10: 287-294. PMID: 24827793 129. Alqarawi W, Allwaim M. Prevalence and predictors of false positive QTc prolongation by the automated measurement. Front Cardiovasc Med 2024; 11: 1465264. PMID: 39450233 130. Yoshinaga M, Ninomiya Y, Tanaka Y, et al. Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome. Circ J 2024; 88: 1176-1184. PMID: 38044147 131. Shimizu W, Antzelevitch C. Cellular and ionic basis for T-wave alternans under long-QT conditions. Circulation 1999; 99: 1499- 1507. PMID: 10086976 132. Vincent GM. The heart rate of Romano-Ward syndrome patients. Am Heart J 1986; 112: 61-64. PMID: 3728288 133. Fukuyama M, Ohno S, Ozawa J, et al. High Prevalence of Late- Appearing T-Wave in Patients With Long QT Syndrome Type 8. Circ J 2020; 84: 559-568. PMID: 32161207 134. Rijnbeek PR, Witsenburg M, Schrama E, et al. New normal limits for the paediatric electrocardiogram. Eur Heart J 2001; 22: 702-711. PMID: 11286528 135. Sy RW, van der Werf C, Chattha IS, et al. Derivation and validation of a simple exercise-based algorithm for prediction of genetic