Idiopathic Ventricular Fibrillation - Just How Much Idiopathic is it?
Status PubMed-not-MEDLINE Jazyk angličtina Země Singapur Médium electronic-ecollection
Typ dokumentu časopisecké články, přehledy
PubMed
39228494
PubMed Central
PMC11366998
DOI
10.31083/j.rcm2508306
PII: S1530-6550(24)01443-1
Knihovny.cz E-zdroje
- Klíčová slova
- Brugada syndrome, arrhythmic syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, long QT syndrome, sudden cardiac death,
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Idiopathic ventricular fibrillation is diagnosed in survivors of sudden cardiac death that has been caused by ventricular fibrillation without known structural or electrical abnormalities, even after extensive investigation. It is a common cause of sudden death in young adults. Although idiopathic ventricular fibrillation is a diagnosis of exclusion, in many cases only a partial investigation algorithm is performed. The aim of this review is to present a comprehensive diagnostic evaluation algorithm with a focus on diagnostic assessment of inherited arrhythmic syndromes and genetic background.
Zobrazit více v PubMed
Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). European Heart Journal . 2015;36:2793–2867. PubMed
Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, et al. 2022 ESC Guidelines for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. European Heart Journal . 2022;43:3997–4126. PubMed
Winkel BG, Holst AG, Theilade J, Kristensen IB, Thomsen JL, Ottesen GL, et al. Nationwide study of sudden cardiac death in persons aged 1-35 years. European Heart Journal . 2011;32:983–990. PubMed
Pilmer CM, Kirsh JA, Hildebrandt D, Krahn AD, Gow RM. Sudden cardiac death in children and adolescents between 1 and 19 years of age. Heart Rhythm . 2014;11:239–245. PubMed
Risgaard B, Winkel BG, Jabbari R, Behr ER, Ingemann-Hansen O, Thomsen JL, et al. Burden of sudden cardiac death in persons aged 1 to 49 years: nationwide study in Denmark. Circulation. Arrhythmia and Electrophysiology . 2014;7:205–211. PubMed
Fishman GI, Chugh SS, Dimarco JP, Albert CM, Anderson ME, Bonow RO, et al. Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop. Circulation . 2010;122:2335–2348. PubMed PMC
Wong CX, Brown A, Lau DH, Chugh SS, Albert CM, Kalman JM, et al. Epidemiology of Sudden Cardiac Death: Global and Regional Perspectives. Heart, Lung & Circulation . 2019;28:6–14. PubMed
Bougouin W, Lamhaut L, Marijon E, Jost D, Dumas F, Deye N, et al. Characteristics and prognosis of sudden cardiac death in Greater Paris: population-based approach from the Paris Sudden Death Expertise Center (Paris-SDEC) Intensive Care Medicine . 2014;40:846–854. PubMed
Waldmann V, Karam N, Bougouin W, Sharifzadehgan A, Dumas F, Narayanan K, et al. Burden of Coronary Artery Disease as a Cause of Sudden Cardiac Arrest in the Young. Journal of the American College of Cardiology . 2019;73:2118–2120. PubMed
Waldmann V, Karam N, Rischard J, Bougouin W, Sharifzadehgan A, Dumas F, et al. Low rates of immediate coronary angiography among young adults resuscitated from sudden cardiac arrest. Resuscitation . 2020;147:34–42. PubMed
Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, et al. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. The New England Journal of Medicine . 2016;374:2441–2452. PubMed
Winkel BG, Risgaard B, Sadjadieh G, Bundgaard H, Haunsø S, Tfelt-Hansen J. Sudden cardiac death in children (1-18 years): symptoms and causes of death in a nationwide setting. European Heart Journal . 2014;35:868–875. PubMed
Holmberg M, Holmberg S, Herlitz J. Incidence, duration and survival of ventricular fibrillation in out-of-hospital cardiac arrest patients in sweden. Resuscitation . 2000;44:7–17. PubMed
Priori SG, Aliot E, Blomstrom-Lundqvist C, Bossaert L, Breithardt G, Brugada P, et al. Task Force on Sudden Cardiac Death of the European Society of Cardiology. European Heart Journal . 2001;22:1374–1450. PubMed
Kurz MC, Schmicker RH, Leroux B, Nichol G, Aufderheide TP, Cheskes S, et al. Advanced vs. Basic Life Support in the Treatment of Out-of-Hospital Cardiopulmonary Arrest in the Resuscitation Outcomes Consortium. Resuscitation . 2018;128:132–137. PubMed
Patil KD, Halperin HR, Becker LB. Cardiac arrest: resuscitation and reperfusion. Circulation Research . 2015;116:2041–2049. PubMed PMC
Oving I, de Graaf C, Karlsson L, Jonsson M, Kramer-Johansen J, Berglund E, et al. Occurrence of shockable rhythm in out-of-hospital cardiac arrest over time: A report from the COSTA group. Resuscitation . 2020;151:67–74. PubMed
Anderson RD, Kumar S, Kalman JM, Sanders P, Sacher F, Hocini M, et al. Catheter Ablation of Ventricular Fibrillation. Heart, Lung & Circulation . 2019;28:110–122. PubMed
Cheniti G, Hocini M, Martin R, Sacher F, Dubois R, Haissaguerre M, et al. Is VF an Ablatable Rhythm? Current Treatment Options in Cardiovascular Medicine . 2017;19:14. PubMed
Haïssaguerre M, Shoda M, Jaïs P, Nogami A, Shah DC, Kautzner J, et al. Mapping and ablation of idiopathic ventricular fibrillation. Circulation . 2002;106:962–967. PubMed
Haïssaguerre M, Shah DC, Jaïs P, Shoda M, Kautzner J, Arentz T, et al. Role of Purkinje conducting system in triggering of idiopathic ventricular fibrillation. Lancet (London, England) . 2002;359:677–678. PubMed
Van Herendael H, Zado ES, Haqqani H, Tschabrunn CM, Callans DJ, Frankel DS, et al. Catheter ablation of ventricular fibrillation: importance of left ventricular outflow tract and papillary muscle triggers. Heart Rhythm . 2014;11:566–573. PubMed
Santoro F, Di Biase L, Hranitzky P, Sanchez JE, Santangeli P, Perini AP, et al. Ventricular fibrillation triggered by PVCs from papillary muscles: clinical features and ablation. Journal of Cardiovascular Electrophysiology . 2014;25:1158–1164. PubMed
Haïssaguerre M, Derval N, Sacher F, Jesel L, Deisenhofer I, de Roy L, et al. Sudden cardiac arrest associated with early repolarization. The New England Journal of Medicine . 2008;358:2016–2023. PubMed
Cluitmans MJM, Bayer J, Bear LR, Ter Bekke RMA, Heijman J, Coronel R, et al. The circle of reentry: Characteristics of trigger-substrate interaction leading to sudden cardiac arrest. Frontiers in Cardiovascular Medicine . 2023;10:1121517. PubMed PMC
Weiss JN, Qu Z, Chen PS, Lin SF, Karagueuzian HS, Hayashi H, et al. The dynamics of cardiac fibrillation. Circulation . 2005;112:1232–1240. PubMed
Chen J, Mandapati R, Berenfeld O, Skanes AC, Jalife J. High-frequency periodic sources underlie ventricular fibrillation in the isolated rabbit heart. Circulation Research . 2000;86:86–93. PubMed
Jalife J. Ventricular fibrillation: mechanisms of initiation and maintenance. Annual Review of Physiology . 2000;62:25–50. PubMed
Nash MP, Mourad A, Clayton RH, Sutton PM, Bradley CP, Hayward M, et al. Evidence for multiple mechanisms in human ventricular fibrillation. Circulation . 2006;114:536–542. PubMed
Pandit SV, Jalife J. Rotors and the dynamics of cardiac fibrillation. Circulation Research . 2013;112:849–862. PubMed PMC
Conte G, Belhassen B, Lambiase P, Ciconte G, de Asmundis C, Arbelo E, et al. Out-of-hospital cardiac arrest due to idiopathic ventricular fibrillation in patients with normal electrocardiograms: results from a multicentre long-term registry. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology . 2019;21:1670–1677. PubMed PMC
Groeneveld SA, Verheul LM, van der Ree MH, Mulder BA, Scholten MF, Alings M, et al. Importance of Systematic Diagnostic Testing in Idiopathic Ventricular Fibrillation: Results from the Dutch iVF Registry. JACC. Clinical Electrophysiology . 2023;9:345–355. PubMed
Krahn AD, Healey JS, Chauhan V, Birnie DH, Simpson CS, Champagne J, et al. Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER) Circulation . 2009;120:278–285. PubMed
Visser M, van der Heijden JF, van der Smagt JJ, Doevendans PA, Wilde AA, Loh P, et al. Long-Term Outcome of Patients Initially Diagnosed with Idiopathic Ventricular Fibrillation: A Descriptive Study. Circulation. Arrhythmia and Electrophysiology . 2016;9:e004258. PubMed
Leinonen JT, Crotti L, Djupsjöbacka A, Castelletti S, Junna N, Ghidoni A, et al. The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? International Journal of Cardiology . 2018;250:139–145. PubMed
Waldmann V, Bougouin W, Karam N, Dumas F, Sharifzadehgan A, Gandjbakhch E, et al. Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation. European Heart Journal . 2018;39:1981–1987. PubMed PMC
Giudicessi JR, Ackerman MJ. Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum. International Journal of Cardiology . 2018;270:214–220. PubMed PMC
Frontera A, Vlachos K, Kitamura T, Mahida S, Pillois X, Fahy G, et al. Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications. Journal of the American Heart Association . 2019;8:e011172. PubMed PMC
Cunningham T, Roston TM, Franciosi S, Liu MC, Atallah J, Escudero CA, et al. Initially unexplained cardiac arrest in children and adolescents: A national experience from the Canadian Pediatric Heart Rhythm Network. Heart Rhythm . 2020;17:975–981. PubMed
Merghani A, Monkhouse C, Kirkby C, Savvatis K, Mohiddin SA, Elliott P, et al. Diagnostic Impact of Repeated Expert Review & Long-Term Follow-Up in Determining Etiology of Idiopathic Cardiac Arrest. Journal of the American Heart Association . 2021;10:e019610. PubMed PMC
Michowitz Y, Milman A, Sarquella-Brugada G, Andorin A, Champagne J, Postema PG, et al. Fever-related arrhythmic events in the multicenter Survey on Arrhythmic Events in Brugada Syndrome. Heart Rhythm . 2018;15:1394–1401. PubMed
Belhassen B, Tovia-Brodie O. Red Flags in Syncope: Clues for the Diagnosis of Idiopathic Ventricular Fibrillation. The American Journal of Medicine . 2022;135:1434–1436. PubMed
Buylaert WA, Calle PA, Houbrechts HN. Serum electrolyte disturbances in the post-resuscitation period. The Cerebral Resuscitation Study Group. Resuscitation. . 1989;17 Suppl:S189–S196. discussion S199–S206. PubMed
Thompson RG, Cobb LA. Hypokalemia after resuscitation from out-of-hospital ventricular fibrillation. JAMA . 1982;248:2860–2863. PubMed
Bjune T, Risgaard B, Kruckow L, Glinge C, Ingemann-Hansen O, Leth PM, et al. Post-mortem toxicology in young sudden cardiac death victims: a nationwide cohort study. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology . 2018;20:614–621. PubMed
Morentin B, Ballesteros J, Callado LF, Meana JJ. Recent cocaine use is a significant risk factor for sudden cardiovascular death in 15-49-year-old subjects: a forensic case-control study. Addiction (Abingdon, England) . 2014;109:2071–2078. PubMed
Bauman JL, Grawe JJ, Winecoff AP, Hariman RJ. Cocaine-related sudden cardiac death: a hypothesis correlating basic science and clinical observations. Journal of Clinical Pharmacology . 1994;34:902–911. PubMed
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari MD, et al. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria. International Journal of Cardiology . 2020;319:106–114. PubMed
Matta MG, Gulayin PE, García-Zamora S, Gutierrez L, Rubinstein AL, Irazola VE, et al. Epidemiology of early repolarization pattern in an adult general population. Acta Cardiologica . 2020;75:713–723. PubMed
Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, et al. J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology . 2017;19:665–694. PubMed PMC
Rosso R, Kogan E, Belhassen B, Rozovski U, Scheinman MM, Zeltser D, et al. J-point elevation in survivors of primary ventricular fibrillation and matched control subjects: incidence and clinical significance. Journal of the American College of Cardiology . 2008;52:1231–1238. PubMed
Haïssaguerre M, Nademanee W, Hocini M, Duchateau J, André C, Lavergne T, et al. The Spectrum of Idiopathic Ventricular Fibrillation and J-Wave Syndromes: Novel Mapping Insights. Cardiac Electrophysiology Clinics . 2019;11:699–709. PubMed
Mellor GJ, Blom LJ, Groeneveld SA, Winkel BG, Ensam B, Bargehr J, et al. Familial Evaluation in Idiopathic Ventricular Fibrillation: Diagnostic Yield and Significance of J Wave Syndromes. Circulation. Arrhythmia and Electrophysiology . 2021;14:e009089. PubMed
Rosso R, Glikson E, Belhassen B, Katz A, Halkin A, Steinvil A, et al. Distinguishing “benign” from “malignant early repolarization”: the value of the ST-segment morphology. Heart Rhythm . 2012;9:225–229. PubMed
Tikkanen JT, Junttila MJ, Anttonen O, Aro AL, Luttinen S, Kerola T, et al. Early repolarization: electrocardiographic phenotypes associated with favorable long-term outcome. Circulation . 2011;123:2666–2673. PubMed
van der Ree MH, Postema PG. What’s in a name? further classification of patients with apparent idiopathic ventricular fibrillation. European Heart Journal . 2021;42:2839–2841. PubMed
Steinberg C, Davies B, Mellor G, Tadros R, Laksman ZW, Roberts JD, et al. Short-coupled ventricular fibrillation represents a distinct phenotype among latent causes of unexplained cardiac arrest: a report from the CASPER registry. European Heart Journal . 2021;42:2827–2838. PubMed
Groeneveld SA, van der Ree MH, Mulder BA, Balt J, Wilde AAM, Postema PG, et al. Prevalence of Short-Coupled Ventricular Fibrillation in a Large Cohort of Dutch Patients with Idiopathic Ventricular Fibrillation. Circulation . 2022;145:1437–1439. PubMed
Viskin S, Rosovski U, Sands AJ, Chen E, Kistler PM, Kalman JM, et al. Inaccurate electrocardiographic interpretation of long QT: the majority of physicians cannot recognize a long QT when they see one. Heart Rhythm . 2005;2:569–574. PubMed
Moss AJ. Measurement of the QT interval and the risk associated with QTc interval prolongation: a review. The American Journal of Cardiology . 1993;72:23B–25B. PubMed
Garson A, Jr, Dick M, 2nd, Fournier A, Gillette PC, Hamilton R, Kugler JD, et al. The long QT syndrome in children. An international study of 287 patients. Circulation . 1993;87:1866–1872. PubMed
Goldenberg I, Moss AJ, Zareba W. QT interval: how to measure it and what is “normal”. Journal of Cardiovascular Electrophysiology . 2006;17:333–336. PubMed
Vink AS, Neumann B, Lieve KVV, Sinner MF, Hofman N, El Kadi S, et al. Determination and Interpretation of the QT Interval. Circulation . 2018;138:2345–2358. PubMed
Postema PG, De Jong JSSG, Van der Bilt IAC, Wilde AAM. Accurate electrocardiographic assessment of the QT interval: teach the tangent. Heart Rhythm . 2008;5:1015–1018. PubMed
Bazett HC. An Analysis of the Time-Relations of. Heart . 1920;7:353.
Fridericia LS. Die Systolendauer im Elekrokardiogramm bei normalen Menschen und bei Herzkranken. Acta Medica Scandinavica . 1920;53:469–486.
Viskin S, Postema PG, Bhuiyan ZA, Rosso R, Kalman JM, Vohra JK, et al. The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. Journal of the American College of Cardiology . 2010;55:1955–1961. PubMed PMC
Vink AS, Hermans BJM, Hooglugt JLQ, Peltenburg PJ, Meijborg VMF, Hofman N, et al. Diagnostic Accuracy of the Standing Test in Adults Suspected for Congenital Long-QT Syndrome. Journal of the American Heart Association . 2023;12:e026419. PubMed PMC
Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. Journal of the American College of Cardiology . 2011;57:802–812. PubMed
Groeneveld SA, van der Ree MH, Taha K, de Bruin-Bon RHA, Cramer MJ, Teske AJ, et al. Echocardiographic deformation imaging unmasks global and regional mechanical dysfunction in patients with idiopathic ventricular fibrillation: A multicenter case-control study. Heart Rhythm . 2021;18:1666–1672. PubMed
Cabanelas N, Vidigal Ferreira MJ, Donato P, Gaspar A, Pinto J, Caseiro-Alves F, et al. Added value of cardiac magnetic resonance in etiological diagnosis of ventricular arrhythmias. Revista Portuguesa De Cardiologia: Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology: an Official Journal of the Portuguese Society of Cardiology . 2013;32:785–791. PubMed
Neilan TG, Farhad H, Mayrhofer T, Shah RV, Dodson JA, Abbasi SA, et al. Late gadolinium enhancement among survivors of sudden cardiac arrest. JACC. Cardiovascular Imaging . 2015;8:414–423. PubMed PMC
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, et al. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation . 2020;141:1872–1884. PubMed PMC
Basso C, Iliceto S, Thiene G, Perazzolo Marra M. Mitral Valve Prolapse, Ventricular Arrhythmias, and Sudden Death. Circulation . 2019;140:952–964. PubMed
Düren DR, Becker AE, Dunning AJ. Long-term follow-up of idiopathic mitral valve prolapse in 300 patients: a prospective study. Journal of the American College of Cardiology . 1988;11:42–47. PubMed
Delling FN, Aung S, Vittinghoff E, Dave S, Lim LJ, Olgin JE, et al. Antemortem and Post-Mortem Characteristics of Lethal Mitral Valve Prolapse Among All Countywide Sudden Deaths. JACC. Clinical Electrophysiology . 2021;7:1025–1034. PubMed PMC
Basso C, Perazzolo Marra M, Rizzo S, De Lazzari M, Giorgi B, Cipriani A, et al. Arrhythmic Mitral Valve Prolapse and Sudden Cardiac Death. Circulation . 2015;132:556–566. PubMed
Groeneveld SA, Kirkels FP, Cramer MJ, Evertz R, Haugaa KH, Postema PG, et al. Prevalence of Mitral Annulus Disjunction and Mitral Valve Prolapse in Patients with Idiopathic Ventricular Fibrillation. Journal of the American Heart Association . 2022;11:e025364. PubMed PMC
Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL, et al. Prevalence and clinical outcome of mitral-valve prolapse. The New England Journal of Medicine . 1999;341:1–7. PubMed
Fulton BL, Liang JJ, Enriquez A, Garcia FC, Supple GE, Riley MP, et al. Imaging characteristics of papillary muscle site of origin of ventricular arrhythmias in patients with mitral valve prolapse. Journal of Cardiovascular Electrophysiology . 2018;29:146–153. PubMed
Levine RA, Stathogiannis E, Newell JB, Harrigan P, Weyman AE. Reconsideration of echocardiographic standards for mitral valve prolapse: lack of association between leaflet displacement isolated to the apical four chamber view and independent echocardiographic evidence of abnormality. Journal of the American College of Cardiology . 1988;11:1010–1019. PubMed
Faletra FF, Leo LA, Paiocchi VL, Caretta A, Viani GM, Schlossbauer SA, et al. Anatomy of mitral annulus insights from non-invasive imaging techniques. European Heart Journal. Cardiovascular Imaging . 2019;20:843–857. PubMed
Todica A, Siebermair J, Schiller J, Zacherl MJ, Fendler WP, Massberg S, et al. Assessment of right ventricular sympathetic dysfunction in patients with arrhythmogenic right ventricular cardiomyopathy: An 123I-metaiodobenzylguanidine SPECT/CT study. Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology . 2020;27:2402–2409. PubMed PMC
Siebermair J, Lehner S, Sattler SM, Rizas KD, Beckmann BM, Becker A, et al. Left-ventricular innervation assessed by 123I-SPECT/CT is associated with cardiac events in inherited arrhythmia syndromes. International Journal of Cardiology . 2020;312:129–135. PubMed
Wang YS, Scheinman MM, Chien WW, Cohen TJ, Lesh MD, Griffin JC. Patients with supraventricular tachycardia presenting with aborted sudden death: incidence, mechanism and long-term follow-up. Journal of the American College of Cardiology . 1991;18:1711–1719. PubMed
Brembilla-Perrot B, Marçon O, Chometon F, Bertrand J, Terrier de la Chaise A, Louis P, et al. Supraventricular tachyarrhythmia as a cause of sudden cardiac arrest. Journal of Interventional Cardiac Electrophysiology: an International Journal of Arrhythmias and Pacing . 2006;16:97–104. PubMed
Haïssaguerre M, Hocini M, Cheniti G, Duchateau J, Sacher F, Puyo S, et al. Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death. Circulation. Arrhythmia and Electrophysiology . 2018;11:e006120. PubMed PMC
Giudicessi JR, Ackerman MJ. Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors. Heart Rhythm . 2019;16:1232–1239. PubMed
Roston TM, Kallas D, Davies B, Franciosi S, De Souza AM, Laksman ZW, et al. Burst Exercise Testing Can Unmask Arrhythmias in Patients with Incompletely Penetrant Catecholaminergic Polymorphic Ventricular Tachycardia. JACC. Clinical Electrophysiology . 2021;7:437–441. PubMed
Walker BD, Krahn AD, Klein GJ, Skanes AC, Yee R. Burst bicycle exercise facilitates diagnosis of latent long QT syndrome. American Heart Journal . 2005;150:1059–1063. PubMed
Wong JA, Gula LJ, Klein GJ, Yee R, Skanes AC, Krahn AD. Utility of treadmill testing in identification and genotype prediction in long-QT syndrome. Circulation. Arrhythmia and Electrophysiology . 2010;3:120–125. PubMed
Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation . 2011;124:2181–2184. PubMed
Collet JP, Thiele H, Barbato E, Barthélémy O, Bauersachs J, Bhatt DL, et al. 2020 ESC Guidelines for the management of acute coronary syndromes in patients presenting without persistent ST-segment elevation. European Heart Journal . 2021;42:1289–1367. PubMed
Conte G, de Asmundis C, Ciconte G, Julià J, Sieira J, Chierchia GB, et al. Follow-up from childhood to adulthood of individuals with family history of Brugada syndrome and normal electrocardiograms. JAMA . 2014;312:2039–2041. PubMed
Zaya M, Mehta PK, Merz CNB. Provocative testing for coronary reactivity and spasm. Journal of the American College of Cardiology . 2014;63:103–109. PubMed PMC
Abdalla IS, Prineas RJ, Neaton JD, Jacobs DR, Jr, Crow RS. Relation between ventricular premature complexes and sudden cardiac death in apparently healthy men. The American Journal of Cardiology . 1987;60:1036–1042. PubMed
Sitorus GDS, Ragab AAY, Houck CA, Lanters EAH, Heida A, van Gastel VE, et al. Ventricular Dysrhythmias During Long-Term Follow-Up in Patients with Inherited Cardiac Arrhythmia. The American Journal of Cardiology . 2019;124:1436–1441. PubMed
Friedlander Y, Siscovick DS, Weinmann S, Austin MA, Psaty BM, Lemaitre RN, et al. Family history as a risk factor for primary cardiac arrest. Circulation . 1998;97:155–160. PubMed
Jouven X, Desnos M, Guerot C, Ducimetière P. Predicting sudden death in the population: the Paris Prospective Study I. Circulation . 1999;99:1978–1983. PubMed
Dekker LRC, Bezzina CR, Henriques JPS, Tanck MW, Koch KT, Alings MW, et al. Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. Circulation . 2006;114:1140–1145. PubMed
Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, 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. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology . 2022;24:1307–1367. PubMed PMC
Mellor G, Laksman ZWM, Tadros R, Roberts JD, Gerull B, Simpson CS, et al. Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) Circulation. Cardiovascular Genetics . 2017;10:e001686. PubMed
Asatryan B, Schaller A, Seiler J, Servatius H, Noti F, Baldinger SH, et al. Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors with or Without Previous Clinical Evidence of Heart Disease. The American Journal of Cardiology . 2019;123:2031–2038. PubMed
Vittoria Matassini M, Krahn AD, Gardner M, Champagne J, Sanatani S, Birnie DH, et al. Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardia. Heart Rhythm . 2014;11:274–281. PubMed
Verheul LM, van der Ree MH, Groeneveld SA, Mulder BA, Christiaans I, Kapel GFL, et al. The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology . 2023;25:euad336. PubMed PMC
Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, et al. Prevalence of the congenital long-QT syndrome. Circulation . 2009;120:1761–1767. PubMed PMC
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, et al. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation . 2020;141:418–428. PubMed PMC
Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation . 2001;103:196–200. PubMed
Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation . 2001;103:485–490. PubMed
Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, et al. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. European Heart Journal . 2019;40:2964–2975. PubMed PMC
Clemens DJ, Tester DJ, Giudicessi JR, Bos JM, Rohatgi RK, Abrams DJ, et al. International Triadin Knockout Syndrome Registry. Circulation. Genomic and Precision Medicine . 2019;12:e002419. PubMed
Lahat H, Pras E, Eldar M. A missense mutation in CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Annals of Medicine . 2004;36:87–91. PubMed
Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, et al. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Human Molecular Genetics . 2012;21:2759–2767. PubMed PMC
Devalla HD, Gélinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, et al. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Molecular Medicine . 2016;8:1390–1408. PubMed PMC
Webster G, Aburawi EH, Chaix MA, Chandler S, Foo R, Islam AKMM, et al. Life-threatening arrhythmias with autosomal recessive TECRL variants. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology . 2021;23:781–788. PubMed PMC
Giudicessi JR, Lieve KVV, Rohatgi RK, Koca F, Tester DJ, van der Werf C, et al. Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. Circulation. Genomic and Precision Medicine . 2019;12:e002510. PubMed
Probst V, Wilde AAM, Barc J, Sacher F, Babuty D, Mabo P, et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circulation. Cardiovascular Genetics . 2009;2:552–557. PubMed
Herman ARM, Cheung C, Gerull B, Simpson CS, Birnie DH, Klein GJ, et al. Outcome of Apparently Unexplained Cardiac Arrest: Results from Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors with Preserved Ejection Fraction Registry. Circulation. Arrhythmia and Electrophysiology . 2016;9:e003619. PubMed