{"title":"Man with recent myocardial infarction and heart failure","authors":"Dinkar Bhasin, Rahul Kumar, S. Bansal","doi":"10.1136/heartjnl-2022-320808","DOIUrl":null,"url":null,"abstract":"ryanodine receptor mutationcarrying relatives. Circ Arrhythm Electrophysiol 2012;5:748–56. 13 Sumitomo N, Harada K, Nagashima M, et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003;89:66–70. 14 Ohno S, Hasegawa K, Horie M. Gender differences in the inheritance mode of RyR2 mutations in catecholaminergic polymorphic ventricular tachycardia patients. PLoS One 2015;10:e0131517. 15 Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the heart rhythm Society (HRS) and the European heart rhythm association (EHRA). Heart Rhythm 2011;8:1308–39. 16 Schwartz PJ. Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology. J Am Coll Cardiol 2010;55:2577–9. 17 Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology. Genet Med 2015;17:405–24. 18 Kawata H, Ohno S, Aiba T, et al. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations LongTerm Prognosis After Initiation of Medical Treatment. Circ J 2016;80:1907–15. 19 Rijnbeek PR, Witsenburg M, Schrama E, et al. New normal limits for the paediatric electrocardiogram. Eur Heart J 2001;22:702–11. 20 Rijnbeek PR, van Herpen G, Bots ML, et al. Normal values of the electrocardiogram for ages 1690 years. J Electrocardiol 2014;47:914–21. 21 Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69–74. 22 Priori SG, Chen SRW. Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. Circ Res 2011;108:871–83. 23 MedeirosDomingo A, Bhuiyan ZA, Tester DJ, et al. The RYR2encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exerciseinduced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009;54:2065–74. 24 Kanda Y. Investigation of the freely available easytouse software ’EZR’ for medical statistics. Bone Marrow Transplant 2013;48:452–8. 25 Leinonen JT, Crotti L, Djupsjöbacka A, et al. The genetics underlying idiopathic ventricular fibrillation: a special role for catecholaminergic polymorphic ventricular tachycardia? Int J Cardiol 2018;250:139–45. 26 Nesta AV, Tafur D, Beck CR. Hotspots of human mutation. Trends Genet 2021;37:30276–6. 27 Roston TM, Vinocur JM, Maginot KR, et al. Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol 2015;8:633–42. 28 Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009;119:2426–34. 29 Roston TM, Kallas D, Davies B, et al. Burst exercise testing can unmask arrhythmias in patients with incompletely penetrant catecholaminergic polymorphic ventricular tachycardia. JACC: Clinical Electrophysiology 2021;7:437–41. 30 RouxBuisson N, Egéa G, Denjoy I, et al. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. Europace 2011;13:130–2.","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"847 - 898"},"PeriodicalIF":0.0000,"publicationDate":"2022-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"British Heart Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/heartjnl-2022-320808","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
ryanodine receptor mutationcarrying relatives. Circ Arrhythm Electrophysiol 2012;5:748–56. 13 Sumitomo N, Harada K, Nagashima M, et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003;89:66–70. 14 Ohno S, Hasegawa K, Horie M. Gender differences in the inheritance mode of RyR2 mutations in catecholaminergic polymorphic ventricular tachycardia patients. PLoS One 2015;10:e0131517. 15 Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the heart rhythm Society (HRS) and the European heart rhythm association (EHRA). Heart Rhythm 2011;8:1308–39. 16 Schwartz PJ. Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology. J Am Coll Cardiol 2010;55:2577–9. 17 Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology. Genet Med 2015;17:405–24. 18 Kawata H, Ohno S, Aiba T, et al. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations LongTerm Prognosis After Initiation of Medical Treatment. Circ J 2016;80:1907–15. 19 Rijnbeek PR, Witsenburg M, Schrama E, et al. New normal limits for the paediatric electrocardiogram. Eur Heart J 2001;22:702–11. 20 Rijnbeek PR, van Herpen G, Bots ML, et al. Normal values of the electrocardiogram for ages 1690 years. J Electrocardiol 2014;47:914–21. 21 Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69–74. 22 Priori SG, Chen SRW. Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. Circ Res 2011;108:871–83. 23 MedeirosDomingo A, Bhuiyan ZA, Tester DJ, et al. The RYR2encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exerciseinduced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009;54:2065–74. 24 Kanda Y. Investigation of the freely available easytouse software ’EZR’ for medical statistics. Bone Marrow Transplant 2013;48:452–8. 25 Leinonen JT, Crotti L, Djupsjöbacka A, et al. The genetics underlying idiopathic ventricular fibrillation: a special role for catecholaminergic polymorphic ventricular tachycardia? Int J Cardiol 2018;250:139–45. 26 Nesta AV, Tafur D, Beck CR. Hotspots of human mutation. Trends Genet 2021;37:30276–6. 27 Roston TM, Vinocur JM, Maginot KR, et al. Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol 2015;8:633–42. 28 Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009;119:2426–34. 29 Roston TM, Kallas D, Davies B, et al. Burst exercise testing can unmask arrhythmias in patients with incompletely penetrant catecholaminergic polymorphic ventricular tachycardia. JACC: Clinical Electrophysiology 2021;7:437–41. 30 RouxBuisson N, Egéa G, Denjoy I, et al. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. Europace 2011;13:130–2.