Catecholaminergic polymorphic ventricular tachycardia causes: Difference between revisions
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===Genetic Causes=== | ===Genetic Causes=== | ||
*Catecholaminergic polymorphic ventricular tachycardia is caused by [[mutation]] in the following [[genes]]: | *Catecholaminergic polymorphic ventricular tachycardia is caused by [[mutation]] in the following [[genes]]:<ref name="PrioriNapolitano2001">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Tiso|first3=Natascia|last4=Memmi|first4=Mirella|last5=Vignati|first5=Gabriele|last6=Bloise|first6=Raffaella|last7=Sorrentino|first7=Vincenzo|last8=Danieli|first8=Gian Antonio|title= | ||
Mutations in the Cardiac Ryanodine Receptor Gene ( | |||
hRyR2 | |||
) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia | |||
|journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref><ref name="AckermanPriori2011">{{cite journal|last1=Ackerman|first1=M. J.|last2=Priori|first2=S. G.|last3=Willems|first3=S.|last4=Berul|first4=C.|last5=Brugada|first5=R.|last6=Calkins|first6=H.|last7=Camm|first7=A. J.|last8=Ellinor|first8=P. T.|last9=Gollob|first9=M.|last10=Hamilton|first10=R.|last11=Hershberger|first11=R. E.|last12=Judge|first12=D. P.|last13=Le Marec|first13=H.|last14=McKenna|first14=W. J.|last15=Schulze-Bahr|first15=E.|last16=Semsarian|first16=C.|last17=Towbin|first17=J. A.|last18=Watkins|first18=H.|last19=Wilde|first19=A.|last20=Wolpert|first20=C.|last21=Zipes|first21=D. P.|title=HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)|journal=Europace|volume=13|issue=8|year=2011|pages=1077–1109|issn=1099-5129|doi=10.1093/europace/eur245}}</ref> | |||
**[[ryanodine receptor 2|RYR2]] encoding [[Ryanodine receptor 2]] | **[[ryanodine receptor 2|RYR2]] encoding [[Ryanodine receptor 2]] | ||
**[[Calsequestrin|CASQ2]] encoding [[Calsequestrin|Calsequestrin 2]] | **[[Calsequestrin|CASQ2]] encoding [[Calsequestrin|Calsequestrin 2]] | ||
Latest revision as of 05:22, 24 July 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mounika Reddy Vadiyala, M.B.B.S.[2]
Overview
Catecholaminergic polymorphic ventricular tachycardia is a genetic disorder. It is caused by mutations in the genes such as RYR2, CASQ2, CALM1 and TRDN.
Causes
Genetic Causes
- Catecholaminergic polymorphic ventricular tachycardia is caused by mutation in the following genes:[1][2]
- RYR2 encoding Ryanodine receptor 2
- CASQ2 encoding Calsequestrin 2
- CALM1 encoding Calmodulin 1
- TRDN encoding Triadin
To review risk factors for the development of CPVT, click here
References
- ↑ Priori, Silvia G.; Napolitano, Carlo; Tiso, Natascia; Memmi, Mirella; Vignati, Gabriele; Bloise, Raffaella; Sorrentino, Vincenzo; Danieli, Gian Antonio (2001). "Mutations in the Cardiac Ryanodine Receptor Gene (
hRyR2
) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation. 103 (2): 196–200. doi:10.1161/01.CIR.103.2.196. ISSN 0009-7322. line feed character in
|title=at position 51 (help) - ↑ Ackerman, M. J.; Priori, S. G.; Willems, S.; Berul, C.; Brugada, R.; Calkins, H.; Camm, A. J.; Ellinor, P. T.; Gollob, M.; Hamilton, R.; Hershberger, R. E.; Judge, D. P.; Le Marec, H.; McKenna, W. J.; Schulze-Bahr, E.; Semsarian, C.; Towbin, J. A.; Watkins, H.; Wilde, A.; Wolpert, C.; Zipes, D. P. (2011). "HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)". Europace. 13 (8): 1077–1109. doi:10.1093/europace/eur245. ISSN 1099-5129.