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The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry
TM. Roston, Z. Yuchi, PJ. Kannankeril, J. Hathaway, JM. Vinocur, SP. Etheridge, JE. Potts, KR. Maginot, JC. Salerno, MI. Cohen, RM. Hamilton, A. Pflaumer, S. Mohammed, L. Kimlicka, RJ. Kanter, MJ. LaPage, KK. Collins, RA. Gebauer, JD. Temple, AS....
Language English Country England, Great Britain
Document type Journal Article, Multicenter Study, Observational Study
NLK
Free Medical Journals
from 1999 to 1 year ago
PubMed Central
from 2008
Open Access Digital Library
from 1999-01-01
Medline Complete (EBSCOhost)
from 1999-01-01
Oxford Journals Open Access Collection
from 1999-01-01
- MeSH
- Heredity MeSH
- Child MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Markers MeSH
- Calsequestrin genetics MeSH
- Tachycardia, Ventricular diagnosis genetics mortality physiopathology MeSH
- Protein Conformation MeSH
- Humans MeSH
- Adolescent MeSH
- Models, Molecular MeSH
- Mutation * MeSH
- DNA Mutational Analysis MeSH
- Death, Sudden, Cardiac epidemiology MeSH
- Prognosis MeSH
- Registries MeSH
- Retrospective Studies MeSH
- Risk Factors MeSH
- Pedigree MeSH
- Ryanodine Receptor Calcium Release Channel chemistry genetics metabolism MeSH
- Structure-Activity Relationship MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Observational Study MeSH
Aims: 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. Methods and results: 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. Conclusion: 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.
BC Inherited Arrhythmia Program 211 1033 Davie St Vancouver BC V6E 1M7 Canada
Department of Pediatrics A 1 DuPont Hospital For Children 1600 Rockland Rd Wilmington DE 19803 USA
Department of Pediatrics University of Colorado 13123 East 16th Avenue Aurora CO 80045 USA
Department of Pediatrics University of Louisville 601 S Floyd St 602 Louisville KY 40208 USA
Department of Pediatrics University of Rochester 601 Elmwood Ave Box 631 Rochester NY 14642 USA
Department of Pediatrics University of Utah 81 N Mario Capecchi Drive Salt Lake City UT 84113 USA
Department of Pediatrics University of Washington 4800 Sand Point Way NE Seattle WA 98105 USA
Nicklaus Children's Hospital 3100 SW 62 Ave Cardiology ACB 2nd Floor Miami FL 33155 USA
Providence Sacred Heart Children's Hospital 101 W 8th Ave Suite 4300E Spokane WA 99204 USA
References provided by Crossref.org
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- $a Roston, Thomas M $u Departments of Pediatrics/Medicine/Biochemistry & Molecular Biology, University of British Columbia, 4480 Oak Street, Room 1F3, Vancouver, BC, V6H 3V4, Canada.
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- $a The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry / $c TM. Roston, Z. Yuchi, PJ. Kannankeril, J. Hathaway, JM. Vinocur, SP. Etheridge, JE. Potts, KR. Maginot, JC. Salerno, MI. Cohen, RM. Hamilton, A. Pflaumer, S. Mohammed, L. Kimlicka, RJ. Kanter, MJ. LaPage, KK. Collins, RA. Gebauer, JD. Temple, AS. Batra, C. Erickson, M. Miszczak-Knecht, P. Kubuš, Y. Bar-Cohen, M. Kantoch, VC. Thomas, G. Hessling, C. Anderson, ML. Young, SHJ. Choi, M. Cabrera Ortega, YR. Lau, CL. Johnsrude, A. Fournier, F. Van Petegem, S. Sanatani,
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- $a Aims: 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. Methods and results: 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. Conclusion: 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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