| Title |
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.
|
|---|---|
| Published in |
Europace, January 2017
|
| DOI | 10.1093/europace/euw389 |
| Pubmed ID | |
| Authors |
Thomas M Roston, Zhiguang Yuchi, Prince J Kannankeril, Julie Hathaway, Jeffrey M Vinocur, Susan P Etheridge, James E Potts, Kathleen R Maginot, Jack C Salerno, Mitchell I Cohen, Robert M Hamilton, Andreas Pflaumer, Saira Mohammed, Lynn Kimlicka, Ronald J Kanter, Martin J LaPage, Kathryn K Collins, Roman A Gebauer, Joel D Temple, Anjan S Batra, Christopher Erickson, Maria Miszczak-Knecht, Peter Kubuš, Yaniv Bar-Cohen, Michal Kantoch, Vincent C Thomas, Gabriele Hessling, Chris Anderson, Ming-Lon Young, Sally H J Choi, Michel Cabrera Ortega, Yung R Lau, Christopher L Johnsrude, Anne Fournier, Filip Van Petegem, Shubhayan Sanatani |
| 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Zimbabwe | 1 | 33% |
| Spain | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 87 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 87 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 11 | 13% |
| Other | 10 | 11% |
| Student > Bachelor | 6 | 7% |
| Student > Doctoral Student | 5 | 6% |
| Researcher | 5 | 6% |
| Other | 20 | 23% |
| Unknown | 30 | 34% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 30 | 34% |
| Biochemistry, Genetics and Molecular Biology | 13 | 15% |
| Business, Management and Accounting | 2 | 2% |
| Nursing and Health Professions | 2 | 2% |
| Agricultural and Biological Sciences | 2 | 2% |
| Other | 8 | 9% |
| Unknown | 30 | 34% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 November 2022.
All research outputs
#7,206,686
of 25,377,790 outputs
Outputs from Europace
#1,324
of 3,093 outputs
Outputs of similar age
#126,167
of 424,092 outputs
Outputs of similar age from Europace
#17
of 65 outputs
Altmetric has tracked 25,377,790 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 3,093 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.5. This one has gotten more attention than average, scoring higher than 56% of its peers.
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