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Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients. JACC Clin Electrophysiol 2024; 10: 2584-2596. PMID: 39387742 43. Locati EH, Zareba W, Moss AJ, et al. Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation 1998; 97: 2237-2244. PMID: 9631873 44. Splawski I, Timothy KW, Decher N, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 2005; 102: 8089-8096. PMID: 15863612 45. Horigome H, Nagashima M, Sumitomo N, et al. Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. Circ Arrhythm Electrophysiol 2010; 3: 10-17. PMID: 19996378 46. Fukuyama M, Horie M, Kato K, et al. Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy. Circ J 2023; 87: 1828- 1835. PMID: 37380439 47. Crotti L, Spazzolini C, Nyegaard M, et al. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. Eur Heart J 2023; 44: 3357-3370. PMID: 37528649 48. Goldenberg I, Moss AJ, Bradley J, et al. Long-QT syndrome after age 40. Circulation 2008; 117: 2192-2201. PMID: 18427134 49. Tomidokoro D, Nakamura T, Oka S, et al. Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes. Circ Genom Precis Med 2024; 17: e004671. PMID: 39469765 50. Hobbs JB, Peterson DR, Moss AJ, et al. Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA 2006; 296: 1249-1254. PMID: 16968849 51. Goldenberg I, Moss AJ, Peterson DR, et al. Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation 2008; 117: 2184-2191. PMID: 18427136 52. Zareba W, Moss AJ, Schwartz PJ, et al. International Long-QT Syndrome Registry Research Group. Influence of the genotype on the clinical course of the long-QT syndrome. N Engl J Med 1998; 339: 960-965. PMID: 9753711 53. Kutyifa V, Daimee UA, McNitt S, et al. Clinical aspects of the three major genetic forms of long QT syndrome (LQT1, LQT2, LQT3). Ann Noninvasive Electrocardiol 2018; 23: e12537. PMID: 29504689 54. Liu JF, Jons C, Moss AJ, et al. International Long QT Syndrome Registry. Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome. J Am Coll Cardiol 2011; 57: 941-950. PMID: 21329841 55. Ozawa J, Ohno S, Hisamatsu T, et al. Pediatric Cohort With Long QT Syndrome – KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms. Circ J 2016; 80: 696-702. PMID: 26823142 56. Odening KE, Koren G. How do sex hormones modify arrhythmogenesis in long QT syndrome? Sex hormone effects on arrhythmogenic substrate and triggered activity. Heart Rhythm 2014; 11: 2107-2115. PMID: 24954242 57. Nakagawa M, Ooie T, Takahashi N, et al. Influence of menstrual cycle on QT interval dynamics. Pacing Clin Electrophysiol 2006; 29: 607-613. PMID: 16784426 58. Bjelic M, Zareba W, Peterson DR, et al. Sex hormones and repolarization dynamics during the menstrual cycle in women with congenital long QT syndrome. Heart Rhythm 2022; 19: 1532-1540. PMID: 35525425 59. Gutierrez G, Wamboldt R, Baranchuk A. The Impact of Testosterone on the QT Interval: A Systematic Review. Curr Probl Cardiol 2022; 47: 100882. PMID: 34103195 60. Bai CX, Kurokawa J, Tamagawa M, et al. Nontranscriptional regulation of cardiac repolarization currents by testosterone. Circulation 2005; 112: 1701-1710. PMID: 16157773 61. Rautaharju PM, Mason JW, Akiyama T. New age- and sex-specific criteria for QT prolongation based on rate correction formulas that minimize bias at the upper normal limits. Int J Cardiol 2014; 174: 535-540. PMID: 24825030 62. Salem JE, Yang T, Moslehi JJ, et al. Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes. Circulation 2019; 140: 1070-1080. PMID: 31378084 63. Hasegawa K, Ito H, Kaseno K, et al. Impact of Medical Castration on Malignant Arrhythmias in Patients With Prostate Cancer. J Am Heart Assoc 2021; 10: e017267. PMID: 33599136 64. Grandinetti A, Seifried S, Mor J, et al. Prevalence and risk factors

for prolonged QTc in a multiethnic cohort in rural Hawaii. Clin Biochem 2005; 38: 116-122. PMID: 15642272 65. Itoh H, Dochi K, Shimizu W, et al. A Common Mutation of Long

QT Syndrome Type 1 in Japan. Circ J 2015; 79: 2026-2030. PMID: 26118460 66. Takahashi K, Shimizu W, Miyake A, et al. High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. Circ J 2014; 78: 1974- 1979. PMID: 24871449 67. Lahrouchi N, Tadros R, Crotti L, et al. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation 2020; 142: 324-338. PMID: 32429735 68. Rosenberg MA, Lubitz SA, Lin H, et al. Validation of Polygenic Scores for QT Interval in Clinical Populations. Circ Cardiovasc Genet 2017; 10: e001724. PMID: 28986454 69. Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996; 12: 17-23. PMID: 8528244 70. Curran ME, Splawski I, Timothy KW, et al. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995; 80: 795-803. PMID: 7889573 71. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-811. PMID: 7889574 72. Adler A, Novelli V, Amin AS, et al. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation 2020; 141: 418-428. PMID: 31983240 73. Landstrom AP, Fernandez E, Rosenfeld JA, et al. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise. Heart Rhythm 2018; 15: 1042-1050. PMID: 29501670 74. Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. J Arrhythm 2022; 38: 491-553. PMID: 35936045 75. Aiba T. Recent understanding of clinical sequencing and genebased risk stratification in inherited primary arrhythmia syndrome. J Cardiol 2019; 73: 335-342. PMID: 30910390 76. Ohno S, Ozawa J, Fukuyama M, et al. An NGS-based genotyping in LQTS; minor genes are no longer minor. J Hum Genet 2020; 65: 1083-1091. PMID: 32681117 77. Bezzina CR, Lahrouchi N, Priori SG. Genetics of sudden cardiac death. Circ Res 2015; 116: 1919-1936. PMID: 26044248 78. Nishio Y, Makiyama T, Itoh H, et al. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol 2009; 54: 812-819. PMID: 19695459 79. Tomás M, Napolitano C, De Giuli L, et al. Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 2010; 55: 2745- 2752. PMID: 20538168 80. Schwartz PJ, Crotti L, George AL Jr. Modifier genes for sudden cardiac death. Eur Heart J 2018; 39: 3925-3931. PMID: 30215713 81. Moss AJ, Schwartz PJ, Crampton RS, et al. The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 1991; 84: 1136-1144. PMID: 1884444 82. Rohatgi RK, Sugrue A, Bos JM, et al. Contemporary Outcomes in Patients With Long QT Syndrome. J Am Coll Cardiol 2017; 70: 453-462. PMID: 28728690 83. Moss AJ, Shimizu W, Wilde AA, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 2007; 115: 2481-2489. PMID: 17470695 84. Shimizu W, Moss AJ, Wilde AA, et al. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol 2009; 54: 2052- 2062. PMID: 19926013 85. Wilde AA, Moss AJ, Kaufman ES, et al. Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study. Circulation 2016; 134: 872-882. PMID: 27566755 86. Takenaka K, Ai T, Shimizu W, et al. Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome. Circulation 2003; 107: 838-844. PMID: 12591753 87. Shimizu W, Noda T, Takaki H, et al. Diagnostic value of epinephrine

test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. Heart Rhythm 2004; 1: 276-283. PMID: 15851169