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| {{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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| {{Ventricular tachycardia}}
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| {{CMG}}
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| {{SK}} CPVT | | {{CMG}}; {{AE}} {{MRV}} |
| ==Overview==
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| Catecholaminergic Polymorphic Ventricular Tachycardia is an inherited heart rhythm disorder caused by a mutation in voltage gated ion channels which results in ventricular arrhythmias that are provoked by exercise or acute emotion. 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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| ==Epidemiology and Demographics== | | ==[[Catecholaminergic polymorphic ventricular tachycardia historical perspective|Historical Perspective]]== |
| 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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| ==Pathophysiology== | | ==[[Catecholaminergic polymorphic ventricular tachycardia classification|Classification]]== |
| 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]]. CPVT has an autosomal dominant inheritance pattern. There are two genes currently associated with CPVT:
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| *[[RYR2]]: Responsible for the majority of cases. The Ryanodine receptor ([[RYR2]]) is involved in intracardiac Ca2+ handling. Ca2+ overload triggers abnormal cardiac activity.<ref>{{cite journal |author=Wehrens XH, Marks AR |title=Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations |journal=Mayo Clin. Proc. |volume=79 |issue=11 |pages=1367–71 |year=2004 |month=November |pmid=15544013 |doi= 10.4065/79.11.1367|url=http://www.mayoclinicproceedings.com/inside.asp?AID=711&UID= |format= }} {{dead link|date=May 2009}}</ref> Mutation of RYR2 is inherited in an autosomal dominant fashion.
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| *[[CASQ2]]: Responsible for 1-2% of cases. Calsequestrin ([[CASQ2]]) is a calcium buffering protein of the [[sarcoplasmic reticulum]]. The inheritance of the Calsequestrin-2 mutation is autosomal recessive.
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| {| class="wikitable"
| | ==[[Catecholaminergic polymorphic ventricular tachycardia pathophysiology|Pathophysiology]]== |
| |-
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| ! Type
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| ! [[OMIM]]
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| ! Gene
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| ! Locus
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| | CPVT1
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| | {{OMIM2|604772}}
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| | ''[[RYR2]]''
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| | 1q42.1-q43
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| | CPVT2
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| | {{OMIM2|611938}}
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| | ''[[CASQ2]]''
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| | 1p13.3-p11
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| |}
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| ==Natural History, Complications, Prognosis== | | ==[[Catecholaminergic polymorphic ventricular tachycardia causes|Causes]]== |
| The majority of events occur during childhood and more than 60% of affected individuals will have a 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== | | ==[[Catecholaminergic polymorphic ventricular tachycardia differential diagnosis|Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases]]== |
| ===Symptoms===
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| 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=== | | ==[[Catecholaminergic polymorphic ventricular tachycardia epidemiology and demographics|Epidemiology and Demographics]]== |
| The resting electrocardiogram is usually unremarkable but can show sinus bradycardia and a prominent [[U wave]].
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| ===Exercise Stress Testing=== | | ==[[Catecholaminergic polymorphic ventricular tachycardia risk factors|Risk Factors]]== |
| 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=== | | ==[[Catecholaminergic polymorphic ventricular tachycardia screening|Screening]]== |
| 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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| ==Treatment== | | ==[[Catecholaminergic polymorphic ventricular tachycardia natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| CPVT is treated with [[beta blockers]], [[verapamil]] or an [[Implantable cardioverter-defibrillator|ICD]] (implantable cardiac defibrillator).
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| ===Pharmacotherapy===
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| 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>
| | ==Diagnosis== |
| | [[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]] |
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| ===Implantable cardioverter-defibrillator=== | | ==Treatment== |
| [[Implantable cardioverter-defibrillator]]s are used to prevent [[Sudden cardiac death|sudden death]]. | | [[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]] |
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| ===Sympathectomy===
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| 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>
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| == 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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| | 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>
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| | 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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| {|class="wikitable"
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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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| |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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| {|class="wikitable"
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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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| |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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| ==References== | | ==Case Studies== |
| {{reflist|2}}
| | [[Catecholaminergic polymorphic ventricular tachycardia case study one|Case #1]] |
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| {{electrocardiography}}
| | ==Related Chapters== |
| | *[[Ventricular tachycardia]] |
| | *[[Ventricular fibrillation]] |
| | *[[Long QT syndrome]] |
| | *[[Polymorphic ventricular tachycardia]] |
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| [[Category:Cardiology]] | | [[Category:Cardiology]] |
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