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| __NOTOC__ | | __NOTOC__ |
| {{Infobox disease | | {{Catecholaminergic polymorphic ventricular tachycardia}} |
| |Name = Catecholaminergic polymorphic ventricular tachycardia
| | '''For patient information, click [[Catecholaminergic polymorphic ventricular tachycardia(patient information)|here]].'''<br> |
| |Image =
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| |Caption =
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| |DiseasesDB = 33816
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| |ICD10 =
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| |ICD9 =
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| |ICDO =
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| |OMIM = 604772
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| |OMIM_mult = {{OMIM2|611938}}
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| |MedlinePlus = | |
| |eMedicineSubj =
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| |eMedicineTopic =
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| |MeshID =
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| }}
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| {{Ventricular tachycardia}}
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| {{CMG}}; {{AE}}{{MRV}}
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| {{SK}} CPVT, Bidirectional tachycardia induced by catecholamines, Catecholamine-induced polymorphic ventricular tachycardia, Familial polymorphic ventricular tachycardia, FPVT | | {{CMG}}; {{AE}} {{MRV}} |
| ==Overview==
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| [[Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic Polymorphic Ventricular Tachycardia]] ([[CPVT]]) is a rare [[inherited]] [[arrhythmogenic]] disorder characterized by [[syncopal attacks]], [[ventricular arrhythmias]], and even [[sudden cardiac death]], mostly in [[young]] patients. It is caused by [[mutations]] in [[calcium]] handling proteins such as [[Ryanodine receptor 2|RyR2]] and [[Calsequestrin|CASQ2]] within the sarcoplasmic reticulum, which results in [[ventricular arrhythmias]] in the setting of a high [[adrenergic]] tone such as during physical exercise or strong emotions. There are no associated structural abnormalities of the [[heart]].
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| ==Historical Perspective==
| | {{SK}} CPVT, catecholaminergic polymorphic VT, bidirectional ventricular tachycardia induced by catecholamines, bidirectional VT, catecholamine-induced polymorphic ventricular tachycardia, catecholamine induced polymorphic ventricular tachycardia, familial polymorphic ventricular tachycardia, FPVT, polymorphic ventricular tachycardia, polymorphic VT induced by catecholamines. |
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| *[[Catecholaminergic polymorphic ventricular tachycardia]] ([[CPVT]]) was first described by [[Reid et al]] in 1975 and by [[Coumel et al]] in 1978.<ref name="ReidTynan1975">{{cite journal|last1=Reid|first1=D S|last2=Tynan|first2=M|last3=Braidwood|first3=L|last4=Fitzgerald|first4=G R|title=Bidirectional tachycardia in a child. A study using His bundle electrography.|journal=Heart|volume=37|issue=3|year=1975|pages=339–344|issn=1355-6037|doi=10.1136/hrt.37.3.339}}</ref> It was described as a [[familial cardiac arrhythmia]] that occurs in patients with structurally normal heart and causes [[exercise]] or emotion triggered [[syncope]] and [[sudden death]] with a distinguishing pattern of [[ventricular arrhythmias|ventricular]] and [[supraventricular arrhythmias]].
| | ==[[Catecholaminergic polymorphic ventricular tachycardia overview|Overview]]== |
| *In 2001, Cardiac [[ryanodine receptor 2|Ryanodine Receptor]] Gene (hRyR2) mutations were first identified in the pathogenesis of [[Catecholaminergic polymorphic ventricular tachycardia]].<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=
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| Mutations in the Cardiac Ryanodine Receptor Gene (
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| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref>
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| *In 1995 and 2002, the clinical studies by [[Leenhardt et al]] and [[Priori et al]], respectively, have contributed to the understanding of the natural history of [[CPVT]].<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref><ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref>
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| *In 2004, studies showed that [[Ryanodine receptor 2|RyR2]] mutations reduced the threshold for [[Store-Overload-Induced Ca2+ Release]] (SOICR) and increased the tendency for triggered [[arrhythmia]]. Thus it appeared evident that [[catecholaminergic polymorphic ventricular tachycardia]] was caused by uncontrolled [[Calcium|Ca2+]] release from the [[sarcoplasmic reticulum]].<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref>
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| *In 2006, subsequent experimental studies demonstrated that the abnormal [[calcium]] release caused [[arrhythmias]] mediated by delayed [[afterdepolarizations]] and [[triggered activity]].<ref name="LiuColombi2006">{{cite journal|last1=Liu|first1=Nian|last2=Colombi|first2=Barbara|last3=Memmi|first3=Mirella|last4=Zissimopoulos|first4=Spyros|last5=Rizzi|first5=Nicoletta|last6=Negri|first6=Sara|last7=Imbriani|first7=Marcello|last8=Napolitano|first8=Carlo|last9=Lai|first9=F. Anthony|last10=Priori|first10=Silvia G.|title=Arrhythmogenesis in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Research|volume=99|issue=3|year=2006|pages=292–298|issn=0009-7330|doi=10.1161/01.RES.0000235869.50747.e1}}</ref>
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| == Classification == | | ==[[Catecholaminergic polymorphic ventricular tachycardia historical perspective|Historical Perspective]]== |
| {| class="wikitable"
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| |-
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| ! Type
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| ! [[OMIM]]
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| ! Gene
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| ! Protein
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| ! Mode of inheritance
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| ! Locus
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| |-
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| | CPVT1
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| | {{OMIM2|604772}}
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| | ''[[ryanodine receptor 2|RyR2]]''
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| | [[Ryanodine receptor 2]]
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| | [[Autosomal dominant]]
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| | 1q42.1-q43
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| |-
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| | CPVT2
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| | {{OMIM2|611938}}
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| | ''[[Calsequestrin|CASQ2]]''
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| | [[Calsequestrin|Calsequestrin 2]]
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| | [[Autosomal recessive]]
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| | 1p13.3-p11
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| |-
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| | CPVT3
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| | {{OMIM2|614021}}
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| | ''Unknown''
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| | -
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| | [[Autosomal recessive]]
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| | 7p14–p22
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| |-
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| | CPVT4
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| | {{OMIM2|614916}}
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| | ''[[Calmodulin 1|CALM1]]''
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| | [[Calmodulin 1]]
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| | [[Autosomal dominant]]
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| | 14q32.11
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| |-
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| | CPVT5
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| | {{OMIM2|615441}}
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| | ''[[TRDN]]''
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| | [[Triadin]]
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| | [[Autosomal recessive]] | |
| | 6q22.31
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| |}
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| ==Pathophysiology==
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| The [[voltage-gated ion channel]] [[mutation]] associated with [[CPVT]] intermittently causes the [[heart]] to develop [[polymorphic ventricular tachycardia]] in response to the natural release of [[catecholamines]]. [[Catecholaminergic polymorphic VT]] may have both [[autosomal dominant]] and [[autosomal recessive]] pattern of [[inheritance]]. The following [[genes]] are associated with [[CPVT]]:
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| *'''[[ryanodine receptor 2|RYR2]]''':
| | ==[[Catecholaminergic polymorphic ventricular tachycardia classification|Classification]]== |
| **[[Mutations]] in [[ryanodine receptor 2|cardiac ryanodine receptor]] gene [[ryanodine receptor 2|RyR2]] accounts for CPVT 1, and majority of the cases (approximately 50-65%).<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=
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| Mutations in the Cardiac Ryanodine Receptor Gene (
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| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |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>
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| **Genetic linkage studies revealed the disease-causing [[locus]] with an [[autosomal dominant]] inheritance pattern on [[chromosome]] [[1q42–q43]].<ref name="SwanPiippo1999">{{cite journal|last1=Swan|first1=Heikki|last2=Piippo|first2=Kirsi|last3=Viitasalo|first3=Matti|last4=Heikkilä|first4=Päivi|last5=Paavonen|first5=Timo|last6=Kainulainen|first6=Katariina|last7=Kere|first7=Juha|last8=Keto|first8=Pekka|last9=Kontula|first9=Kimmo|last10=Toivonen|first10=Lauri|title=Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts|journal=Journal of the American College of Cardiology|volume=34|issue=7|year=1999|pages=2035–2042|issn=07351097|doi=10.1016/S0735-1097(99)00461-1}}</ref>
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| **[[ryanodine receptor 2|RyR2]] is involved in intracellular [[calcium]] [[homeostasis]] and in the [[excitation-contraction coupling]] of the [[heart]].
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| **Mutations in [[ryanodine receptor 2|RYR2]] cause uncontrolled [[calcium]] leakage from the [[sarcoplasmic reticulum]] during electrical [[diastole]], with a subsequent increase in the [[cytosolic]] [[calcium]] concentration.<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref><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=
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| Mutations in the Cardiac Ryanodine Receptor Gene (
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| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref>
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| *'''[[Calsequestrin|CASQ2]]''':
| | ==[[Catecholaminergic polymorphic ventricular tachycardia pathophysiology|Pathophysiology]]== |
| **[[Mutations]] in [[Calsequestrin|cardiac calsequestrin]] gene [[Calsequestrin|CASQ2]] accounts for CPVT 2, for approximately 2–5% of the CPVT cases.<ref name="LahatPras2001">{{cite journal|last1=Lahat|first1=Hadas|last2=Pras|first2=Elon|last3=Olender|first3=Tsviya|last4=Avidan|first4=Nili|last5=Ben-Asher|first5=Edna|last6=Man|first6=Orna|last7=Levy-Nissenbaum|first7=Etgar|last8=Khoury|first8=Asad|last9=Lorber|first9=Avraham|last10=Goldman|first10=Boleslaw|last11=Lancet|first11=Doron|last12=Eldar|first12=Michael|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|journal=The American Journal of Human Genetics|volume=69|issue=6|year=2001|pages=1378–1384|issn=00029297|doi=10.1086/324565}}</ref>
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| **The chromosome involved is located on 1p13.3-p11 with an autosomal recessive pattern of inheritance.
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| **[[Calsequestrin|CASQ2]] is a [[calcium|Ca2+]] buffering protein within the [[sarcoplasmic reticulum]] that plays a role in the control of [[calcium]] release from the [[sarcoplasmic reticulum]] to the [[cytosol]].
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| The [[genes]] encoding [[ryanodine receptor 2|cardiac ryanodine-calcium release channel]] [[ryanodine receptor 2|RyR2]] or, infrequently, [[Calsequestrin|cardiac calsequestrin]] [[Calsequestrin|CASQ2]] are thus involved in the release of [[calcium]] from the [[sarcoplasmic reticulum]] and [[mutations]] therein result in inappropriate [[calcium]] leak from the [[sarcoplasmic reticulum]].<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref><ref name="di BarlettaViatchenko-Karpinski2006">{{cite journal|last1=di Barletta|first1=Marina Raffaele|last2=Viatchenko-Karpinski|first2=Serge|last3=Nori|first3=Alessandra|last4=Memmi|first4=Mirella|last5=Terentyev|first5=Dmitry|last6=Turcato|first6=Federica|last7=Valle|first7=Giorgia|last8=Rizzi|first8=Nicoletta|last9=Napolitano|first9=Carlo|last10=Gyorke|first10=Sandor|last11=Volpe|first11=Pompeo|last12=Priori|first12=Silvia G.|title=
| | ==[[Catecholaminergic polymorphic ventricular tachycardia causes|Causes]]== |
| Clinical Phenotype and Functional Characterization of
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| CASQ2
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| Mutations Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=114|issue=10|year=2006|pages=1012–1019|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.106.623793}}</ref><ref name="LehnartWehrens2004">{{cite journal|last1=Lehnart|first1=Stephan E.|last2=Wehrens|first2=Xander H.T.|last3=Laitinen|first3=Päivi J.|last4=Reiken|first4=Steven R.|last5=Deng|first5=Shi-Xiang|last6=Cheng|first6=Zhenzhuang|last7=Landry|first7=Donald W.|last8=Kontula|first8=Kimmo|last9=Swan|first9=Heikki|last10=Marks|first10=Andrew R.|title=Sudden Death in Familial Polymorphic Ventricular Tachycardia Associated With Calcium Release Channel (Ryanodine Receptor) Leak|journal=Circulation|volume=109|issue=25|year=2004|pages=3208–3214|issn=0009-7322|doi=10.1161/01.CIR.0000132472.98675.EC}}</ref>
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| The [[cytosolic]] [[calcium]] overload activates the [[sodium-calcium exchanger]], leading to a transient inward current, and delayed [[after-depolarizations]] that in turn can lead to triggered [[arrhythmias]], particularly under conditions of high [[adrenergic|β-adrenergic]] tone.<ref name="CerroneNoujaim2007">{{cite journal|last1=Cerrone|first1=Marina|last2=Noujaim|first2=Sami F.|last3=Tolkacheva|first3=Elena G.|last4=Talkachou|first4=Arkadzi|last5=O’Connell|first5=Ryan|last6=Berenfeld|first6=Omer|last7=Anumonwo|first7=Justus|last8=Pandit|first8=Sandeep V.|last9=Vikstrom|first9=Karen|last10=Napolitano|first10=Carlo|last11=Priori|first11=Silvia G.|last12=Jalife|first12=José|title=Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Research|volume=101|issue=10|year=2007|pages=1039–1048|issn=0009-7330|doi=10.1161/CIRCRESAHA.107.148064}}</ref><ref name="Knollmann2006">{{cite journal|last1=Knollmann|first1=B. C.|title=Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia|journal=Journal of Clinical Investigation|year=2006|issn=0021-9738|doi=10.1172/JCI29128}}</ref>
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| Other genes that have been associated with CPVT are:
| | ==[[Catecholaminergic polymorphic ventricular tachycardia differential diagnosis|Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases]]== |
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| *'''Unknown''':
| | ==[[Catecholaminergic polymorphic ventricular tachycardia epidemiology and demographics|Epidemiology and Demographics]]== |
| **[[CPVT]] 3 has been linked to [[chromosome]] 7p14–p22 with an [[autosomal recessive]] pattern of [[inheritance]].<ref name="BhuiyanHamdan2007">{{cite journal|last1=Bhuiyan|first1=Zahurul A.|last2=Hamdan|first2=Mohamed A.|last3=Shamsi|first3=Eman T.A.|last4=Postma|first4=Alex V.|last5=Mannens|first5=Marcel M.A.M.|last6=Wilde|first6=Arthur A. M.|last7=Al-Gazali|first7=Lihadh|title=A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22|journal=Journal of Cardiovascular Electrophysiology|volume=18|issue=10|year=2007|pages=1060–1066|issn=1045-3873|doi=10.1111/j.1540-8167.2007.00913.x}}</ref>
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| **This novel [[phenotype]] is highly malignant form of [[CPVT]], characterized by exercise-induced [[ventricular arrhythmia]] and a minor exercise-induced [[QT-prolongation]].
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| *'''[[Calmodulin 1|CALM1]]'''
| | ==[[Catecholaminergic polymorphic ventricular tachycardia risk factors|Risk Factors]]== |
| **[[Mutations]] in [[Calmodulin 1]] gene [[Calmodulin 1|CALM1]] accounts for [[CPVT]] 4, for approximately <1% of the [[CPVT]] cases.
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| **[[Mutation]] in the [[Calmodulin 1|CALM1]] gene was first identified in a [[Swedish]] family with a history of exercise-induced ventricular arrhythmias, syncope, and sudden death.<ref name="NyegaardOvergaard2012">{{cite journal|last1=Nyegaard|first1=Mette|last2=Overgaard|first2=Michael T.|last3=Søndergaard|first3=Mads T.|last4=Vranas|first4=Marta|last5=Behr|first5=Elijah R.|last6=Hildebrandt|first6=Lasse L.|last7=Lund|first7=Jacob|last8=Hedley|first8=Paula L.|last9=Camm|first9=A. John|last10=Wettrell|first10=Göran|last11=Fosdal|first11=Inger|last12=Christiansen|first12=Michael|last13=Børglum|first13=Anders D.|title=Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death|journal=The American Journal of Human Genetics|volume=91|issue=4|year=2012|pages=703–712|issn=00029297|doi=10.1016/j.ajhg.2012.08.015}}</ref>
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| **The [[chromosome]] involved is located on 14q32 with an [[autosomal dominant]] pattern of [[inheritance]].
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| **[[Calmodulin 1|Calmodulin]] is a [[calcium]]-binding protein that stabilizes [[Ryanodine receptor|RYR2]] and controls its opening during [[diastole]].<ref name="NyegaardOvergaard2012">{{cite journal|last1=Nyegaard|first1=Mette|last2=Overgaard|first2=Michael T.|last3=Søndergaard|first3=Mads T.|last4=Vranas|first4=Marta|last5=Behr|first5=Elijah R.|last6=Hildebrandt|first6=Lasse L.|last7=Lund|first7=Jacob|last8=Hedley|first8=Paula L.|last9=Camm|first9=A. John|last10=Wettrell|first10=Göran|last11=Fosdal|first11=Inger|last12=Christiansen|first12=Michael|last13=Børglum|first13=Anders D.|title=Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death|journal=The American Journal of Human Genetics|volume=91|issue=4|year=2012|pages=703–712|issn=00029297|doi=10.1016/j.ajhg.2012.08.015}}</ref>
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| *'''[[TRDN]]''':
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| **[[Mutations]] in [[Triadin]] gene [[TRDN]] accounts for [[CPVT]] 5, for approximately 1-2% of the CPVT cases.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref>
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| **[[Mutations]] in the [[gene]] encoding [[Triadin]] ([[TRDN]]) were identified in the probands of 2 families in whom [[mutations]] for [[Ryanodine receptor|RYR2]] and [[Calsequestrin|CASQ2]] were not identified.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref>
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| **The [[chromosome]] involved is located on 6q22 with an [[autosomal recessive]] pattern of [[inheritance]].
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| **[[Triadin]] is a [[protein]] within the [[sarcoplasmic reticulum]], physically and functionally related to the ryanodine receptor that plays a role in the control of [[calcium]] release from the [[sarcoplasmic reticulum]] to the [[cytosol]].
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| **[[TRDN]] [[mutations]] impair [[FKBP|FKBP12.6]]–[[Ryanodine receptor|RYR2]] interaction, thus destabilizing the [[Ryanodine receptor|RyR2 channel]] opening,<ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/# |title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref> or by a reduction of [[Calsequestrin|CASQ2]] [[protein]] levels.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref>, thus affecting [[calcium]] release and resulting in a calcium leak during [[diastole]] similar to that observed for [[Ryanodine receptor|RyR2]] mutants.
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| More recently, two other genes have been reported to cause [[CPVT]]-like [[phenotype]] (phenocopy):<ref name="Tristani-FirouziJensen2002">{{cite journal|last1=Tristani-Firouzi|first1=Martin|last2=Jensen|first2=Judy L.|last3=Donaldson|first3=Matthew R.|last4=Sansone|first4=Valeria|last5=Meola|first5=Giovanni|last6=Hahn|first6=Angelika|last7=Bendahhou|first7=Said|last8=Kwiecinski|first8=Hubert|last9=Fidzianska|first9=Anna|last10=Plaster|first10=Nikki|last11=Fu|first11=Ying-Hui|last12=Ptacek|first12=Louis J.|last13=Tawil|first13=Rabi|title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)|journal=Journal of Clinical Investigation|volume=110|issue=3|year=2002|pages=381–388|issn=0021-9738|doi=10.1172/JCI15183}}</ref><ref name="MohlerSplawski2004">{{cite journal|last1=Mohler|first1=Peter J.|last2=Splawski|first2=Igor|last3=Napolitano|first3=Carlo|last4=Bottelli|first4=Georgia|last5=Sharpe|first5=Leah|last6=Timothy|first6=Katherine|last7=Priori|first7=Silvia G.|last8=Keating|first8=Mark T.|last9=Bennett|first9=Vann|title=A cardiac arrhythmia syndrome caused by loss of ankyrin-B function|journal=Proceedings of the National Academy of Sciences|volume=101|issue=24|year=2004|pages=9137–9142|issn=0027-8424|doi=10.1073/pnas.0402546101}}</ref>
| | ==[[Catecholaminergic polymorphic ventricular tachycardia screening|Screening]]== |
| *'''[[KCNJ2]]'''- encoding for [[Inward-rectifier potassium ion channel]] - [[autosomal dominant]] - 17q24.3
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| *'''[[Ankyrins|ANKB]]'''- encoding for [[Ankyrins|ankyrin B]], a [[cytoskeletal protein]] - [[autosomal dominant]] - 4q25
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| | | ==[[Catecholaminergic polymorphic ventricular tachycardia natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| ==Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases== | |
| Catecholaminergic polymorphic ventricular tachycardia must be differentiated from other diseases that cause [[syncope]], [[ventricular tachycardia]], and [[sudden cardiac death]], such as: | |
| *[[Arrhythmogenic right ventricular dysplasia]]
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| *Short-coupled [[ventricular tachycardia]] (SC-[[torsade de pointes]] [TdP])
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| *[[Long QT syndrome]]
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| *[[Andersen-Tawil syndrome]]
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| | |
| ==Epidemiology and Demographics==
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| The incidence of CPVT is 10/100,000 people. CPVT is estimated to cause 15% of all unexplained [[sudden cardiac death]]s in young people.
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| ==Risk factors==
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| ==Screening==
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| ==Natural History, Complications, Prognosis==
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| The majority of events occur during childhood and more than 60% of affected individuals will have the first episode of syncope or cardiac arrest by age 20. The [[polymorphic ventricular tachycardia]] may self-terminate or it may degenerate into [[ventricular fibrillation]], causing [[sudden cardiac death]].
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| ==Diagnosis== | | ==Diagnosis== |
| ===Symptoms===
| | [[Catecholaminergic polymorphic ventricular tachycardia diagnostic study of choice|Diagnostic study of choice]] | [[Catecholaminergic polymorphic ventricular tachycardia history and symptoms|History and Symptoms]] | [[Catecholaminergic polymorphic ventricular tachycardia physical examination|Physical Examination]] | [[Catecholaminergic polymorphic ventricular tachycardia laboratory findings|Laboratory Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia electrocardiogram|Electrocardiogram]] | [[Catecholaminergic polymorphic ventricular tachycardia exercise stress testing|Exercise Stress Testing]] | [[Catecholaminergic polymorphic ventricular tachycardia genetic testing|Genetic Testing]] | [[Catecholaminergic polymorphic ventricular tachycardia x ray|X-Ray Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Catecholaminergic polymorphic ventricular tachycardia CT scan|CT-Scan Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia MRI|MRI Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia other imaging findings|Other Imaging Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia other diagnostic studies|Other Diagnostic Studies]] |
| The most common symptom is [[Syncope (medicine)|syncope]], as a result of exercise-induced ventricular arrhythmias which occur during physical activity or acute emotion.<ref name="IRCCS">{{cite journal|title=Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia|journal=Heart Rhythm|date=May 2007|first=Carlo|last=Napolitano|coauthors=Silvia G. Priori|pmid=17467641|volume=4|issue=5|pages=675–8|doi=10.1016/j.hrthm.2006.12.048|url=http://www.iranep.org/Articles/CPVT+viewpoint+Rhythm+2007.pdf|format=PDF|accessdate=2008-12-17}} {{Dead link|date=September 2010|bot=H3llBot|url=http://cardiovascres.oxfordjournals.org/cgi/content/full/67/3/379|accessdate=2009-02-09 }}</ref> The symptoms usually appear during the first or second decade of life.
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| ===Electrocardiogram===
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| The resting electrocardiogram is usually unremarkable but can show sinus bradycardia and a prominent [[U wave]].
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| ===Exercise Stress Testing===
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| CPVT is diagnosis based on reproducing ventricular arrhythmias during exercise stress testing, syncope occurring during physical activity and acute emotion, and a history of exercise or emotion-related palpitations and dizziness with an absence of structural cardiac abnormalities.
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| ===Genetic Testing===
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| Genetic testing is available in some locations and may be useful in diagnosing the presence of the genetic disorder among related individuals before the onset of aborted sudden death or sudden cardiac death.
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|
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| ==Treatment== | | ==Treatment== |
| CPVT is treated with [[beta blockers]], [[verapamil]] or an [[Implantable cardioverter-defibrillator|ICD]] (implantable cardiac defibrillator).
| | [[Catecholaminergic polymorphic ventricular tachycardia medical therapy|Medical Therapy]] | [[Catecholaminergic polymorphic ventricular tachycardia implantable cardioverter-defibrillator|Implantable Cardioverter-Defibrillator]] | [[Catecholaminergic polymorphic ventricular tachycardia surgery|Surgery]] | [[Catecholaminergic polymorphic ventricular tachycardia primary prevention|Primary Prevention]] | [[Catecholaminergic polymorphic ventricular tachycardia secondary prevention|Secondary Prevention]] | [[Catecholaminergic polymorphic ventricular tachycardia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Catecholaminergic polymorphic ventricular tachycardia future or investigational therapies|Future or Investigational Therapies]] |
| ===Pharmacotherapy===
| |
| Medications to treat CPVT include [[beta blockers]] and [[verapamil]].<ref name="nihon">{{cite journal|title=Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death|journal=Heart|date=January 2003|first=Naokata|last=Sumitomo|coauthors=Harada K, Nagashima M, Yasuda T, Nakamura Y, Aragaki Y, Saito A, Kurosaki K, Jouo K, Koujiro M, Konishi S, Matsuoka S, Oono T, Hayakawa S, Miura M, Ushinohama H, Shibata T, Niimura I|volume=89|issue=1|pages=66–70|pmid=12482795 |format=|doi=10.1136/heart.89.1.66|pmc=1767500 }}</ref>
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| According to recent research published in ''[[Nature Medicine]]'', [[flecainide]] inhibits the release of the cardiac ryanodine receptor–mediated Ca<sup>2+</sup>, and is therefore believed to medicate the underlying molecular cause of CPVT in both mice and humans.<ref name="Vanderbilt">{{cite journal|title=Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans|journal=Nature Medicine|date=2009-04-01|first=Hiroshi|last=Watanabe|coauthors=Nagesh Chopra, Derek Laver, Hyun Seok Hwang, Sean S. Davies, Daniel E. Roach, Henry J. Duff, Dan M. Roden, Arthur A. M. Wilde, Björn C. Knollmann|volume=15|issue=4|pages=380–383|doi=10.1038/nm.1942|url=http://www.nature.com/nm/journal/v15/n4/abs/nm.1942.html|pmc=2904954|accessdate=2009-05-04|pmid=19330009}}</ref>
| | ==Case Studies== |
| | [[Catecholaminergic polymorphic ventricular tachycardia case study one|Case #1]] |
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| ===Implantable cardioverter-defibrillator=== | | ==Related Chapters== |
| [[Implantable cardioverter-defibrillator]]s are used to prevent [[Sudden cardiac death|sudden death]]. | | *[[Ventricular tachycardia]] |
| | | *[[Ventricular fibrillation]] |
| ===Sympathectomy===
| | *[[Long QT syndrome]] |
| In recent reports, [[left cardiac sympathetic denervation]] and [[bilateral thoracoscopic sympathectomy]] have shown promising results in individuals whose symptoms cannot be controlled by beta blockers.<ref>{{cite journal|title=Successful treatment of catecholaminergic polymorphic ventricular tachycardia with bilateral thoracoscopic sympathectomy|journal=Heart Rhythm|date=October 2008|first=P.A.|last=Scott|coauthors=A.J. Sandilands, G.E. Morris, J.M. Morgan |volume=5|issue=10|pages=1461–1463|pmid=18760972 |url=|format=|doi=10.1016/j.hrthm.2008.07.007 }}</ref>
| | *[[Polymorphic ventricular tachycardia]] |
| | |
| == ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death (DO NOT EDIT) <ref name="pmid16935995">{{cite journal| author=Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M et al.| title=ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. | journal=Circulation | year= 2006 | volume= 114 | issue= 10 | pages= e385-484 | pmid=16935995 | doi=10.1161/CIRCULATIONAHA.106.178233 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16935995}}</ref> ==
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| {|class="wikitable"
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| | colspan="1" style="text-align:center; background:LightGreen"|[[ACC AHA Guidelines Classification Scheme#Classification of Recommendations|Class I]]
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| |-
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| | bgcolor="LightGreen"|<nowiki>"</nowiki>'''1.''' [[Beta blockers]] are indicated for patients who are clinically diagnosed with CPVT on the basis of the presence of spontaneous or documented stress-induced [[ventricular arrhythmias]]. ''([[ACC AHA Guidelines Classification Scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| |
| |-
| |
| | bgcolor="LightGreen"|<nowiki>"</nowiki>'''2.''' Implantation of an [[ICD]] with use of [[beta blockers]] is indicated for patients with CPVT who are survivors of [[cardiac arrest]] and who have reasonable expectation of survival with a good functional status for more than 1 y. ''([[ACC AHA Guidelines Classification Scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
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| |}
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| {|class="wikitable"
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| |-
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| | colspan="1" style="text-align:center; background:LemonChiffon"|[[ACC AHA Guidelines Classification Scheme#Classification of Recommendations|Class IIa]]
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| |-
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| |bgcolor="LemonChiffon"|<nowiki>"</nowiki>'''1.''' [[Beta blockers]] can be effective in patients without clinical manifestations when the diagnosis of CPVT is established during childhood based on [[genetic analysis]]. ''([[ACC AHA Guidelines Classification Scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
| |
| |-
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| |bgcolor="LemonChiffon"|<nowiki>"</nowiki>'''2.''' Implantation of an [[ICD]] with the use of [[beta blockers]] can be effective for affected patients with CPVT with [[syncope]] and/or documented sustained [[VT]] while receiving [[beta blockers]] and who have reasonable expectation of survival with a good functional status for more than 1 y. ''([[ACC AHA Guidelines Classification Scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
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| |}
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| {|class="wikitable"
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| |-
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| | colspan="1" style="text-align:center; background:LemonChiffon"|[[ACC AHA Guidelines Classification Scheme#Classification of Recommendations|Class IIb]]
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| |-
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| |bgcolor="LemonChiffon"|<nowiki>"</nowiki>'''1.''' [[Beta blockers]] may be considered for patients with CPVT who were genetically diagnosed in adulthood and never manifested clinical symptoms of [[tachyarrhythmias]]. ''([[ACC AHA Guidelines Classification Scheme#Level of Evidence|Level of Evidence: C]])''<nowiki>"</nowiki>
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| |}
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| ==References==
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| {{reflist|2}}
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| {{electrocardiography}}
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| [[Category:Cardiology]] | | [[Category:Cardiology]] |
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