p.119 抽出テキスト

- Review Focused on KCNQ1 p.Val141Met Variant. Circ J 2025 May 13. doi: 10.1253/circj.CJ-24-0927. PMID: 40368814 596. Thorsen K, Dam VS, Kjaer-Sorensen K, et al. Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. Nat Commun 2017; 8: 1696. PMID: 29167417 597. Giustetto C, Schimpf R, Mazzanti A, et al. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol 2011; 58: 587-595. PMID: 21798421 598. Hong K, Piper DR, Diaz-Valdecantos A, et al. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res 2005; 68: 433-440. PMID: 16109388 599. Takechi F, Kato K, Makiyama T, et al. Ventricular Fibrillation in a Family with Short QT Syndrome Type 2 Carrying a Heterozygous KCNQ1-V141M Variant. J Pediatr Cardiol Card Surg 2022; 6: 31-36. 600. Kobza R, Roos M, Niggli B, et al. Prevalence of long and short QT in a young population of 41,767 predominantly male Swiss conscripts. Heart Rhythm 2009; 6: 652-657. PMID: 19303371 601. Moriya M, Seto S, Yano K, et al. Two cases of short QT interval. Pacing Clin Electrophysiol 2007; 30: 1522-1526. PMID: 18070308 602. Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol 2011; 57: 802-812. PMID: 21310316 603. Hattori T, Makiyama T, Akao M, et al. A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Cardiovasc Res 2012; 93: 666-673. PMID: 22155372 604. Priori SG, Pandit SV, Rivolta I, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 2005; 96: 800-807. PMID: 15761194 605. Watanabe H, Makiyama T, Koyama T, et al. High prevalence of early repolarization in short QT syndrome. Heart Rhythm 2010; 7: 647-652. PMID: 20206319 606. Giustetto C, Scrocco C, Schimpf R, et al. Usefulness of exercise test in the diagnosis of short QT syndrome. Europace 2015; 17: 628-634. PMID: 25833882 607. Patel C, Yan GX, Antzelevitch C. Short QT syndrome: from bench to bedside. Circ Arrhythm Electrophysiol 2010; 3: 401-408. PMID: 20716721 608. El-Battrawy I, Besler J, Ansari U, et al. Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. Clin Res Cardiol 2019; 108: 1140-1146. PMID: 30879093 609. El-Battrawy I, Besler J, Li X, et al. Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome. Front Pharmacol 2019; 10: 771. PMID: 31427960 610. Gaita F, Giustetto C, Bianchi F, et al. Short QT syndrome: pharmacological treatment. J Am Coll Cardiol 2004; 43: 1494- 1499. PMID: 15093889 611. Mazzanti A, Maragna R, Vacanti G, et al. Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome. J Am Coll Cardiol 2017; 70: 3010-3015. PMID: 29241489 612. Bun SS, Maury P, Giustetto C, et al. Electrical storm in short-QT syndrome successfully treated with Isoproterenol. J Cardiovasc Electrophysiol 2012; 23: 1028-1030. PMID: 22493951 613. Heidbuchel H, Arbelo E, D’Ascenzi F, et al. Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part 2: ventricular arrhythmias, channelopathies, and implantable defibrillators. Europace 2021; 23: 147-148. PMID: 32596731 614. Aizawa Y, Tamura M, Chinushi M, et al. Idiopathic ventricular fibrillation and bradycardia-dependent intraventricular block. Am Heart J 1993; 126: 1473-1474. PMID: 8249808 615. Haïssaguerre M, Derval N, Sacher F, et al. Sudden cardiac arrest associated with early repolarization. N Engl J Med 2008; 358: 2016-2023. PMID: 18463377 616. Antzelevitch C, Yan GX. J wave syndromes. Heart Rhythm 2010; 7: 549-558. PMID: 20153265 617. Haïssaguerre M, Sacher F, Nogami A, et al. Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy. J Am Coll Cardiol 2009; 53: 612-619. PMID: 19215837 618. Tikkanen JT, Anttonen O, Junttila MJ, et al. Long-term outcome associated with early repolarization on electrocardiography. N Engl J Med 2009; 361: 2529-2537. PMID: 19917913 619. Tikkanen JT, Junttila MJ, Anttonen O, et al. Early repolarization: electrocardiographic phenotypes associated with favorable longterm outcome. Circulation 2011; 123: 2666-2673. PMID: 21632493 620. Sinner MF, Reinhard W, Müller M, et al. Association of early repolarization pattern on ECG with risk of cardiac and all-cause mortality: a population-based prospective cohort study (MONICA/ KORA). PLoS Med 2010; 7: e1000314. PMID: 20668657 621. Noseworthy PA, Tikkanen JT, Porthan K, et al. The early repolarization pattern in the general population: clinical correlates and heritability. J Am Coll Cardiol 2011; 57: 2284-2289. PMID: 21600720 622. Haruta D, Matsuo K, Tsuneto A, et al. Incidence and prognostic value of early repolarization pattern in the 12-lead electrocardiogram. Circulation 2011; 123: 2931-2937. PMID: 21646495 623. Olson KA, Viera AJ, Soliman EZ, et al. Long-term prognosis associated with J-point elevation in a large middle-aged biracial cohort: the ARIC study. Eur Heart J 2011; 32: 3098-3106. PMID: 21785106 624. Hisamatsu T, Ohkubo T, Miura K, et al. NIPPON DATA90 Research Group. Association between J-point elevation and death from coronary artery disease –15-year follow up of the NIPPON DATA90. Circ J 2013; 77: 1260-1266. PMID: 23358431 625. O’Neal WT, Wang YG, Wu HT, et al. Electrocardiographic J Wave and Cardiovascular Outcomes in the General Population (from the Atherosclerosis Risk In Communities Study). Am J Cardiol 2016; 118: 811-815. PMID: 27596326 626. Nunn LM, Bhar-Amato J, Lowe MD, et al. Prevalence of J-point elevation in sudden arrhythmic death syndrome families. J Am Coll Cardiol 2011; 58: 286-290. PMID: 21737021 627. Sekiguchi Y, Aonuma K, Takagi M, et al. Japan Idiopathic Ventricular Fibrillation Study (J-IVFS) Investigators. New clinical and electrocardiographic classification in patients with idiopathic ventricular fibrillation. J Cardiovasc Electrophysiol 2013; 24: 902-908. PMID: 23600374 628. Ezaki K, Nakagawa M, Taniguchi Y, et al. Gender differences in the ST segment: effect of androgen-deprivation therapy and possible role of testosterone. Circ J 2010; 74: 2448-2454. PMID: 20834186 629. Saito N, Nagahara D, Ichihara K, et al. Gender-affirming hormone treatment causes changes in gender phenotype in a 12-lead electrocardiogram. Heart Rhythm 2021; 18: 1203-1209. PMID: 33706005 630. Norton N, Li D, Rampersaud E, et al. National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet 2013; 6: 144-153. PMID: 23418287 631. Reinhard W, Kaess BM, Debiec R, et al. Heritability of early repolarization: a population-based study. Circ Cardiovasc Genet 2011; 4: 134-138. PMID: 21282333 632. Haïssaguerre M, Chatel S, Sacher F, et al. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J Cardiovasc Electrophysiol 2009; 20: 93-98. PMID: 19120683 633. Veeramah KR, Karafet TM, Wolf D, et al. The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews. Eur J Hum Genet 2014; 22: 94-98. PMID: 23632791 634. Takayama K, Ohno S, Ding WG, et al. A de novo gain-of-function KCND3 mutation in early repolarization syndrome. Heart Rhythm 2019; 16: 1698-1706. PMID: 31173922 635. Nakajima T, Kawabata-Iwakawa R, Kaneko Y, et al. Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation. Int Heart J 2020; 61: 1049-1055. PMID: 32921676 636. Zhang ZH, Barajas-Martínez H, Xia H, et al. Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants. J Am Coll Cardiol 2021; 78: 1603-1617. PMID: 34649698 637. Teumer A, Trenkwalder T, Kessler T, et al. Lifelines Cohort Study. KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. JCI Insight 2019; 4: e131156. PMID: 31600170 638. Kamakura T, Wada M, Ishibashi K, et al. Differences in the onset mode of ventricular tachyarrhythmia between patients with J wave in anterior leads and those with J wave in inferolateral leads. Heart Rhythm 2017; 14: 553-561. PMID: 27890733 639. Watanabe H, Nogami A, Ohkubo K, et al. Clinical characteristics and risk of arrhythmia recurrences in patients with idiopathic ventricular fibrillation associated with early repolarization. Int J Cardiol 2012; 159: 238-240. PMID: 22709726 640. Antzelevitch C. Genetic, molecular and cellular mechanisms underlying the J wave syndromes. Circ J 2012; 76: 1054-1065. PMID: 22498570 641. Macfarlane PW, Antzelevitch C, Haissaguerre M, et al. The Early