The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, p...
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| Published in | Europace (London, England) Vol. 20; no. 3; pp. 541 - 547 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
01.03.2018
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1099-5129 1532-2092 1532-2092 |
| DOI | 10.1093/europace/euw389 |
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| Abstract | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes.
This is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic testing was undertaken in 194 of 236 subjects (82%) during 3.5 (1.4-5.3) years of follow-up. The majority (60%) had RyR2-associated CPVT1. Variant locations were predicted based on a 3D structural model of RyR2. Specific residues appear to have key structural importance, supported by an association between cardiac arrest and mutations in the intersubunit interface of the N-terminus, and the S4-S5 linker and helices S5 and S6 of the RyR2 C-terminus. In approximately one quarter of symptomatic patients, cardiac events were precipitated by only normal wakeful activities.
This large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events. |
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| AbstractList | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes.
This is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic testing was undertaken in 194 of 236 subjects (82%) during 3.5 (1.4-5.3) years of follow-up. The majority (60%) had RyR2-associated CPVT1. Variant locations were predicted based on a 3D structural model of RyR2. Specific residues appear to have key structural importance, supported by an association between cardiac arrest and mutations in the intersubunit interface of the N-terminus, and the S4-S5 linker and helices S5 and S6 of the RyR2 C-terminus. In approximately one quarter of symptomatic patients, cardiac events were precipitated by only normal wakeful activities.
This large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes.AimsCatecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes.This is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic testing was undertaken in 194 of 236 subjects (82%) during 3.5 (1.4-5.3) years of follow-up. The majority (60%) had RyR2-associated CPVT1. Variant locations were predicted based on a 3D structural model of RyR2. Specific residues appear to have key structural importance, supported by an association between cardiac arrest and mutations in the intersubunit interface of the N-terminus, and the S4-S5 linker and helices S5 and S6 of the RyR2 C-terminus. In approximately one quarter of symptomatic patients, cardiac events were precipitated by only normal wakeful activities.Methods and resultsThis is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic testing was undertaken in 194 of 236 subjects (82%) during 3.5 (1.4-5.3) years of follow-up. The majority (60%) had RyR2-associated CPVT1. Variant locations were predicted based on a 3D structural model of RyR2. Specific residues appear to have key structural importance, supported by an association between cardiac arrest and mutations in the intersubunit interface of the N-terminus, and the S4-S5 linker and helices S5 and S6 of the RyR2 C-terminus. In approximately one quarter of symptomatic patients, cardiac events were precipitated by only normal wakeful activities.This large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events.ConclusionThis large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events. |
| Author | Maginot, Kathleen R Hamilton, Robert M Johnsrude, Christopher L Mohammed, Saira Young, Ming-Lon Sanatani, Shubhayan Erickson, Christopher Hathaway, Julie Potts, James E Kantoch, Michal Kannankeril, Prince J Anderson, Chris Batra, Anjan S Pflaumer, Andreas Collins, Kathryn K Gebauer, Roman A Kanter, Ronald J Thomas, Vincent C Fournier, Anne Hessling, Gabriele Salerno, Jack C Etheridge, Susan P Temple, Joel D Vinocur, Jeffrey M Lau, Yung R Cabrera Ortega, Michel LaPage, Martin J Van Petegem, Filip Kubuš, Peter Kimlicka, Lynn Roston, Thomas M Yuchi, Zhiguang Miszczak-Knecht, Maria Cohen, Mitchell I Choi, Sally H J Bar-Cohen, Yaniv |
| AuthorAffiliation | 2 Department of Pediatrics and the Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART) Vanderbilt University Medical Center and the Monroe Carell Jr. Children's Hospital at Vanderbilt, 2200 Children's Way, Suite 5230, Nashville, TN 37232-9119, USA 10 Royal Children's Hospital MCRI and University of Melbourne, 50 Flemington Road Parkville, Melbourne 3052, Australia 23 Providence Sacred Heart Children's Hospital, 101 W. 8th Ave. Suite 4300E, Spokane, WA 99204, USA 9 Department of Pediatrics, University of Toronto, Hospital for Sick Children, 555 University Avenue Toronto, Ontario M5G 1X8, Canada 12 Department of Pediatrics, University of Michigan, 1500 E Medical Center Drive, #6303, Ann Arbor, MI 48109, USA 14 Department of Pediatric Cardiology, Heart Center, University of Leipzig, Strümpellstrasse 39, Leipzig, Germany 3 BC Inherited Arrhythmia Program, 211-1033 Davie St, Vancouver, BC V6E 1M7, Canada 25 Department of Arrhythmia and Cardiac Pacing, Cardiocentro Pediatrico Willi |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28158428$$D View this record in MEDLINE/PubMed |
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| ContentType | Journal Article |
| Copyright | Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For Permissions, please email: journals.permissions@oup.com. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For Permissions, please email: journals.permissions@oup.com. 2017 |
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| References | Roston ( key 20180803080143_euw389-B8) 2015; 8 Yuchi ( key 20180803080143_euw389-B13) 2012; 20 Jiang ( key 20180803080143_euw389-B24) 2007; 104 Harris ( key 20180803080143_euw389-B9) 2009; 42 Priori ( key 20180803080143_euw389-B16) 2002; 106 Medeiros-Domingo ( key 20180803080143_euw389-B15) 2009; 54 Borko ( key 20180803080143_euw389-B10) 2014; 70 Yuchi ( key 20180803080143_euw389-B11) 2015; 6 Kimlicka ( key 20180803080143_euw389-B20) 2013; 4 Priori ( key 20180803080143_euw389-B4) 2011; 108 Lahat ( key 20180803080143_euw389-B5) 2001; 69 Bauce ( key 20180803080143_euw389-B21) 2002; 40 Blunck ( key 20180803080143_euw389-B19) 2012; 3 Kimlicka ( key 20180803080143_euw389-B22) 2013; 21 Lau ( key 20180803080143_euw389-B12) 2014; 5 Gray ( key 20180803080143_euw389-B25) 2016; 13 Priori ( key 20180803080143_euw389-B2) 2001; 103 Sali ( key 20180803080143_euw389-B17) 1993; 234 Van Petegem ( key 20180803080143_euw389-B18) 2015; 427 Hayashi ( key 20180803080143_euw389-B3) 2009; 119 Tung ( key 20180803080143_euw389-B23) 2010; 468 Priori ( key 20180803080143_euw389-B7) 2013; 15 Van der Werf ( key 20180803080143_euw389-B6) 2012; 5 Leenhardt ( key 20180803080143_euw389-B1) 1995; 91 Yan ( key 20180803080143_euw389-B14) 2015; 517 |
| References_xml | – volume: 5 start-page: 748 year: 2012 ident: key 20180803080143_euw389-B6 article-title: Familial evaluation in catecholaminergic polymorphic ventricular tachycardia publication-title: Circ Arrhythm Electrophysiol – volume: 6 start-page: 7947 year: 2015 ident: key 20180803080143_euw389-B11 article-title: Crystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant publication-title: Nat Commun – volume: 20 start-page: 1201 year: 2012 ident: key 20180803080143_euw389-B13 article-title: Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain publication-title: Structure – volume: 427 start-page: 31 year: 2015 ident: key 20180803080143_euw389-B18 article-title: Ryanodine receptors: allosteric ion channel giants publication-title: J Mol Biol – volume: 468 start-page: 585 year: 2010 ident: key 20180803080143_euw389-B23 article-title: The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule publication-title: Nature – volume: 119 start-page: 2426 year: 2009 ident: key 20180803080143_euw389-B3 article-title: Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia publication-title: Circulation – volume: 15 start-page: 1389 year: 2013 ident: key 20180803080143_euw389-B7 article-title: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes publication-title: Europace – volume: 517 start-page: 50 year: 2015 ident: key 20180803080143_euw389-B14 article-title: Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution publication-title: Nature – volume: 54 start-page: 2065 year: 2009 ident: key 20180803080143_euw389-B15 article-title: The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis publication-title: J Am Coll Cardiol – volume: 91 start-page: 1512 year: 1995 ident: key 20180803080143_euw389-B1 article-title: Catecholaminergic polymorphic ventricular tachycardia in children: a 7-year follow-up of 21 patients publication-title: Circulation – volume: 234 start-page: 779 year: 1993 ident: key 20180803080143_euw389-B17 article-title: Comparative protein modelling by satisfaction of spatial restraints publication-title: J Mol Biol – volume: 106 start-page: 69 year: 2002 ident: key 20180803080143_euw389-B16 article-title: Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia publication-title: Circulation – volume: 13 start-page: 1652 year: 2016 ident: key 20180803080143_euw389-B25 article-title: A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia publication-title: Heart Rhythm – volume: 70 start-page: 2897 issue: Pt 11 year: 2014 ident: key 20180803080143_euw389-B10 article-title: Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias publication-title: Acta Crystallogr D Biol Crystallogr – volume: 104 start-page: 18309 year: 2007 ident: key 20180803080143_euw389-B24 article-title: Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death publication-title: Proc Natl Acad Sci USA – volume: 103 start-page: 196 year: 2001 ident: key 20180803080143_euw389-B2 article-title: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia publication-title: Circulation – volume: 108 start-page: 871 year: 2011 ident: key 20180803080143_euw389-B4 article-title: Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis publication-title: Circ Res – volume: 3 start-page: 166 year: 2012 ident: key 20180803080143_euw389-B19 article-title: Mechanism of electromechanical coupling in voltage-gated potassium channels publication-title: Front Pharmacol – volume: 69 start-page: 1378 year: 2001 ident: key 20180803080143_euw389-B5 article-title: A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel publication-title: Am J Hum Genet – volume: 40 start-page: 341 year: 2002 ident: key 20180803080143_euw389-B21 article-title: Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers publication-title: J Am Coll Cardiol – volume: 21 start-page: 1440 year: 2013 ident: key 20180803080143_euw389-B22 article-title: The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations publication-title: Structure – volume: 42 start-page: 377 year: 2009 ident: key 20180803080143_euw389-B9 article-title: Research electronic data capture (REDCap)–a metadata-driven methodology and workflow process for providing translational research informatics support publication-title: J Biomed Inform – volume: 5 start-page: 5397 year: 2014 ident: key 20180803080143_euw389-B12 article-title: Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain publication-title: Nat Commun – volume: 8 start-page: 633 year: 2015 ident: key 20180803080143_euw389-B8 article-title: Catecholaminergic polymorphic ventricular tachycardia in children: an analysis of therapeutic strategies and outcomes from an international multicenter registry publication-title: Circ Arrhythm Electrophysiol – volume: 4 start-page: 1506 year: 2013 ident: key 20180803080143_euw389-B20 article-title: Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface publication-title: Nat Commun |
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| Snippet | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress.... |
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| SubjectTerms | Adolescent Calsequestrin - genetics Child Clinical Research Death, Sudden, Cardiac - epidemiology DNA Mutational Analysis Female Genetic Markers Genetic Predisposition to Disease Heredity Humans Male Models, Molecular Mutation Pedigree Phenotype Prognosis Protein Conformation Registries Retrospective Studies Risk Factors Ryanodine Receptor Calcium Release Channel - chemistry Ryanodine Receptor Calcium Release Channel - genetics Ryanodine Receptor Calcium Release Channel - metabolism Structure-Activity Relationship Tachycardia, Ventricular - diagnosis Tachycardia, Ventricular - genetics Tachycardia, Ventricular - mortality Tachycardia, Ventricular - physiopathology |
| Title | The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry |
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