Catecholaminergic polymorphic ventricular tachycardia screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{ | {{Catecholaminergic polymorphic ventricular tachycardia}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{MRV}} | ||
==Overview== | ==Overview== | ||
There is insufficient evidence to recommend routine screening for [ | There is insufficient evidence to recommend routine screening for Catecholaminergic polymorphic ventricular tachycardia. But screening among relatives is indicated when a likely pathogenetic mutation is identified in clinically affected index cases. Screening methods for [[CPVT]] are [[exercise stress testing]] and [[genetic testing]]. | ||
==Screening== | ==Screening== | ||
*[[Screening]] of all the first-degree relatives is indicated when a likely pathogenetic [[mutation]] is identified in clinically affected [[index case|index cases]]. | |||
*Clinical and [[genetic]] evaluation, including [[exercise stress testing]] is recommended for both first- and second-degree relatives. | |||
*[[Exercise stress testing]] has a [[specificity]] of 97% and a [[sensitivity]] of 50% for predicting the presence of the familial [[CPVT]]-associated [[mutation]] in [[asymptomatic]] relatives of [[CPVT]] patients.<ref name="HayashiDenjoy2009">{{cite journal|last1=Hayashi|first1=Meiso|last2=Denjoy|first2=Isabelle|last3=Extramiana|first3=Fabrice|last4=Maltret|first4=Alice|last5=Buisson|first5=Nathalie Roux|last6=Lupoglazoff|first6=Jean-Marc|last7=Klug|first7=Didier|last8=Hayashi|first8=Miyuki|last9=Takatsuki|first9=Seiji|last10=Villain|first10=Elisabeth|last11=Kamblock|first11=Joël|last12=Messali|first12=Anne|last13=Guicheney|first13=Pascale|last14=Lunardi|first14=Joël|last15=Leenhardt|first15=Antoine|title=Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=119|issue=18|year=2009|pages=2426–2434|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.829267}}</ref><ref name="van der WerfNederend2012">{{cite journal|last1=van der Werf|first1=Christian|last2=Nederend|first2=Ineke|last3=Hofman|first3=Nynke|last4=van Geloven|first4=Nan|last5=Ebink|first5=Corné|last6=Frohn-Mulder|first6=Ingrid M.E.|last7=Alings|first7=A. Marco W.|last8=Bosker|first8=Hans A.|last9=Bracke|first9=Frank A.|last10=van den Heuvel|first10=Freek|last11=Waalewijn|first11=Reinier A.|last12=Bikker|first12=Hennie|last13=van Tintelen|first13=J. Peter|last14=Bhuiyan|first14=Zahurul A.|last15=van den Berg|first15=Maarten P.|last16=Wilde|first16=Arthur A.M.|title=Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation: Arrhythmia and Electrophysiology|volume=5|issue=4|year=2012|pages=748–756|issn=1941-3149|doi=10.1161/CIRCEP.112.970517}}</ref><ref name="HayashiDenjoy2012">{{cite journal|last1=Hayashi|first1=Miyuki|last2=Denjoy|first2=Isabelle|last3=Hayashi|first3=Meiso|last4=Extramiana|first4=Fabrice|last5=Maltret|first5=Alice|last6=Roux-Buisson|first6=Nathalie|last7=Lupoglazoff|first7=Jean-Marc|last8=Klug|first8=Didier|last9=Maury|first9=Philippe|last10=Messali|first10=Anne|last11=Guicheney|first11=Pascale|last12=Leenhardt|first12=Antoine|title=The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands|journal=EP Europace|volume=14|issue=9|year=2012|pages=1344–1351|issn=1532-2092|doi=10.1093/europace/eus031}}</ref> | |||
*[[Genetic testing]] for [[Ryanodine receptor 2|RyR2]] and [[Calsequestrin|CASQ2]] [[mutations]] should also be considered in first-degree relatives, even with a negative clinical [[phenotype]]. | |||
*Screening by repeat [[exercise testing]] is also recommended in first-degree relatives of [[mutation]]-negative patients with [[CPVT]], depending on the age of the relative.<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> | |||
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==References== | ==References== |
Latest revision as of 15:29, 23 July 2020
Catecholaminergic polymorphic ventricular tachycardia Microchapters |
Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases |
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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
There is insufficient evidence to recommend routine screening for Catecholaminergic polymorphic ventricular tachycardia. But screening among relatives is indicated when a likely pathogenetic mutation is identified in clinically affected index cases. Screening methods for CPVT are exercise stress testing and genetic testing.
Screening
- Screening of all the first-degree relatives is indicated when a likely pathogenetic mutation is identified in clinically affected index cases.
- Clinical and genetic evaluation, including exercise stress testing is recommended for both first- and second-degree relatives.
- Exercise stress testing has a specificity of 97% and a sensitivity of 50% for predicting the presence of the familial CPVT-associated mutation in asymptomatic relatives of CPVT patients.[1][2][3]
- Genetic testing for RyR2 and CASQ2 mutations should also be considered in first-degree relatives, even with a negative clinical phenotype.
- Screening by repeat exercise testing is also recommended in first-degree relatives of mutation-negative patients with CPVT, depending on the age of the relative.[4]
References
- ↑ Hayashi, Meiso; Denjoy, Isabelle; Extramiana, Fabrice; Maltret, Alice; Buisson, Nathalie Roux; Lupoglazoff, Jean-Marc; Klug, Didier; Hayashi, Miyuki; Takatsuki, Seiji; Villain, Elisabeth; Kamblock, Joël; Messali, Anne; Guicheney, Pascale; Lunardi, Joël; Leenhardt, Antoine (2009). "Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation. 119 (18): 2426–2434. doi:10.1161/CIRCULATIONAHA.108.829267. ISSN 0009-7322.
- ↑ van der Werf, Christian; Nederend, Ineke; Hofman, Nynke; van Geloven, Nan; Ebink, Corné; Frohn-Mulder, Ingrid M.E.; Alings, A. Marco W.; Bosker, Hans A.; Bracke, Frank A.; van den Heuvel, Freek; Waalewijn, Reinier A.; Bikker, Hennie; van Tintelen, J. Peter; Bhuiyan, Zahurul A.; van den Berg, Maarten P.; Wilde, Arthur A.M. (2012). "Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation: Arrhythmia and Electrophysiology. 5 (4): 748–756. doi:10.1161/CIRCEP.112.970517. ISSN 1941-3149.
- ↑ Hayashi, Miyuki; Denjoy, Isabelle; Hayashi, Meiso; Extramiana, Fabrice; Maltret, Alice; Roux-Buisson, Nathalie; Lupoglazoff, Jean-Marc; Klug, Didier; Maury, Philippe; Messali, Anne; Guicheney, Pascale; Leenhardt, Antoine (2012). "The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands". EP Europace. 14 (9): 1344–1351. doi:10.1093/europace/eus031. ISSN 1532-2092.
- ↑ 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.