دورية أكاديمية
A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
| العنوان: | A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome. |
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| المؤلفون: | Ni M; Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Dadon Z; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada.; Jesselson Integrated Heart Center, Eisenberg R&D Authority, Shaare Zedek Medical Center, and Hebrew University Faculty of Medicine, Jerusalem, Israel., Ormerod JOM; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, England.; Oxford Heart Centre, John Radcliffe Hospital, Oxford, England., Saenen J; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, Antwerp, Belgium.; Cardiovascular Research, Departments of Genetics, Pharmacology and Physiopathology of Heart, Blood Vessels and Skeleton, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Member of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart)., Hoeksema WF; Department of Clinical Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Heart Failure and Arrhythmias, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands., Antiperovitch P; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada., Tadros R; Montreal Heart Institute and Université de Montréal, Montreal, Quebec, Canada., Christiansen MK; Department of Cardiology, Aarhus University Hospital, Aarhus N, Denmark., Steinberg C; Institut Universitaire de Cardiologie et de Pneumologie de Québec, Laval University, Quebec City, Quebec, Canada., Arnaud M; Department of Cardiac Pacing and Electrophysiology, Hopital Cardiologique du Haut-Leveque, Centre Hospitalier Universitaire de Bordeaux, Pessac, France., Tian S; Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Sun B; Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Estillore JP; Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Wang R; Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Khan HR; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada., Roston TM; Division of Cardiology and Centre for Cardiovascular Innovation, University of British Columbia, Vancouver, Canada., Mazzanti A; Member of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart).; Department of Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Giudicessi JR; Windland Smith Rice Genetic Heart Rhythm Clinic, Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota., Siontis KC; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota., Alak A; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Acosta JG; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Divakara Menon SM; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Tan NS; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., van der Werf C; Member of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart).; Department of Clinical Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Heart Failure and Arrhythmias, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands., Nazer B; Section of Cardiac Electrophysiology, Division of Cardiology, University of Washington Medical Center, Seattle., Vivekanantham H; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Pandya T; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Cunningham J; Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada., Gula LJ; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada., Wong JA; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Amit G; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada., Scheinman MM; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, University of California, San Francisco., Krahn AD; Division of Cardiology and Centre for Cardiovascular Innovation, University of British Columbia, Vancouver, Canada., Ackerman MJ; Windland Smith Rice Genetic Heart Rhythm Clinic, Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota.; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota., Priori SG; Department of Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Gollob MH; Inherited Arrhythmia and Cardiomyopathy Program, Arrhythmia Service, Division of Cardiology, Toronto General Hospital and the University of Toronto, Toronto, Ontario, Canada., Healey JS; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada.; Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada., Sacher F; Department of Cardiac Pacing and Electrophysiology, Hopital Cardiologique du Haut-Leveque, Centre Hospitalier Universitaire de Bordeaux, Pessac, France., Nof E; Leviev Heart Institute, Chaim Sheba Medical Center, Ramat Gan, Israel.; Tel Aviv University, Tel Aviv, Israel., Glikson M; Jesselson Integrated Heart Center, Eisenberg R&D Authority, Shaare Zedek Medical Center, and Hebrew University Faculty of Medicine, Jerusalem, Israel., Wilde AAM; Member of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart).; Department of Clinical Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Heart Failure and Arrhythmias, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands., Watkins H; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, England.; Oxford Biomedical Research Centre and Wellcome Centre for Human Genetics, University of Oxford, Oxford, England., Jensen HK; Member of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart).; Department of Cardiology, Aarhus University Hospital, Aarhus N, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus C, Denmark., Postema PG; Member of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart).; Department of Clinical Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Heart Failure and Arrhythmias, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands., Belhassen B; Tel Aviv University, Tel Aviv, Israel.; Heart Institute, Hadassah University Hospital, Jerusalem, Israel., Chen SRW; Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Roberts JD; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada.; Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada. |
| المصدر: | JAMA [JAMA] 2024 Jul 16; Vol. 332 (3), pp. 204-213. |
| نوع المنشور: | Journal Article; Multicenter Study; Comment |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Chicago : American Medical Association, 1960- |
| مواضيع طبية MeSH: | Electrocardiography*, Humans ; Mice ; Case-Control Studies ; Male ; Animals ; Female ; Adult ; Tachycardia, Ventricular/diagnosis ; Tachycardia, Ventricular/physiopathology ; Tachycardia, Ventricular/etiology ; Heart Arrest/etiology ; Heart Arrest/diagnosis ; Calcium/metabolism ; Calcium/blood ; Tachycardia, Supraventricular/diagnosis ; Tachycardia, Supraventricular/physiopathology ; Tachycardia, Supraventricular/etiology ; Middle Aged ; Disease Models, Animal ; Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/etiology ; Adolescent ; Young Adult ; Ryanodine Receptor Calcium Release Channel/genetics |
| مستخلص: | Importance: Sudden death and cardiac arrest frequently occur without explanation, even after a thorough clinical evaluation. Calcium release deficiency syndrome (CRDS), a life-threatening genetic arrhythmia syndrome, is undetectable with standard testing and leads to unexplained cardiac arrest. Objective: To explore the cardiac repolarization response on an electrocardiogram after brief tachycardia and a pause as a clinical diagnostic test for CRDS. Design, Setting, and Participants: An international, multicenter, case-control study including individual cases of CRDS, 3 patient control groups (individuals with suspected supraventricular tachycardia; survivors of unexplained cardiac arrest [UCA]; and individuals with genotype-positive catecholaminergic polymorphic ventricular tachycardia [CPVT]), and genetic mouse models (CRDS, wild type, and CPVT were used to define the cellular mechanism) conducted at 10 centers in 7 countries. Patient tracings were recorded between June 2005 and December 2023, and the analyses were performed from April 2023 to December 2023. Intervention: Brief tachycardia and a subsequent pause (either spontaneous or mediated through cardiac pacing). Main Outcomes and Measures: Change in QT interval and change in T-wave amplitude (defined as the difference between their absolute values on the postpause sinus beat and the last beat prior to tachycardia). Results: Among 10 case patients with CRDS, 45 control patients with suspected supraventricular tachycardia, 10 control patients who experienced UCA, and 3 control patients with genotype-positive CPVT, the median change in T-wave amplitude on the postpause sinus beat (after brief ventricular tachycardia at ≥150 beats/min) was higher in patients with CRDS (P < .001). The smallest change in T-wave amplitude was 0.250 mV for a CRDS case patient compared with the largest change in T-wave amplitude of 0.160 mV for a control patient, indicating 100% discrimination. Although the median change in QT interval was longer in CRDS cases (P = .002), an overlap between the cases and controls was present. The genetic mouse models recapitulated the findings observed in humans and suggested the repolarization response was secondary to a pathologically large systolic release of calcium from the sarcoplasmic reticulum. Conclusions and Relevance: There is a unique repolarization response on an electrocardiogram after provocation with brief tachycardia and a subsequent pause in CRDS cases and mouse models, which is absent from the controls. If these findings are confirmed in larger studies, this easy to perform maneuver may serve as an effective clinical diagnostic test for CRDS and become an important part of the evaluation of cardiac arrest. |
| التعليقات: | Comment on: JAMA. 2024 Jul 16;332(3):214. doi: 10.1001/jama.2024.10230. (PMID: 38900415) |
| المشرفين على المادة: | SY7Q814VUP (Calcium) 0 (Ryanodine Receptor Calcium Release Channel) |
| SCR Disease Name: | Polymorphic catecholergic ventricular tachycardia |
| تواريخ الأحداث: | Date Created: 20240620 Date Completed: 20240716 Latest Revision: 20240716 |
| رمز التحديث: | 20240716 |
| مُعرف محوري في PubMed: | PMC11190834 |
| DOI: | 10.1001/jama.2024.8599 |
| PMID: | 38900490 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1538-3598 |
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| DOI: | 10.1001/jama.2024.8599 |