View source for Catecholaminergic polymorphic ventricular tachycardia

{{Multiple issues| expert = Medicine
| incomplete = February 2009
|date=March 2009}}
{{Infobox disease |
  Name           = Catecholaminergic polymorphic ventricular tachycardia |
  Image          = |
  Caption        = |
  DiseasesDB     = 33816 |
  ICD10          = |
  ICD9           = |
  ICDO           = |
  OMIM           = 604772 |
  OMIM_mult      = {{OMIM2|611938}} | 
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID         = |
}}
'''Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)''' is an electrophysiological disorder of the [[heart]] that occurs in [[genetic predisposition|genetically predisposed]] individuals. Thought to affect as many as one in ten thousand people, it is estimated to cause 15% of all unexplained [[sudden cardiac death]]s in young people.

First recognized in 1975, the [[voltage gated ion channel]] mutation intermittently causes the heart to enter a [[medical emergency|life threatening]] state of [[arrhythmia]] as response to the natural release of [[catecholamines]]. The most common symptom is [[Syncope (medicine)|syncope]], which most commonly appears during the first or second decade of life.

Because its symptoms are most prevalent when the body is subjected to intense emotional or physical stress, the condition can elude traditional methods of heart examination such as [[echocardiogram]] and resting [[electrocardiogram]].<ref> {{Cite journal| first= Vivek| last=Iyer| coauthors=Antonis A. Armoundas| contribution=Unraveling the Mechanisms of Catecholaminergic Polymorphic Ventricular Tachycardia| title=Proc. IEEE Eng Med Biol Soc. | editor-first=| editor-last=| coeditors=| publisher=IEEE| place=Cardiovascular Research Center, [[Massachusetts General Hospital]]| pages=6761–4| date=| year=2006| volume= Suppl| pmid=17959506 | contribution-url=http://embc2006.njit.edu/pdf/279918_Iyer.pdf| journal= Conference proceedings : ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference| format=| accessdate=2008-12-02| doi= 10.1109/IEMBS.2006.260941 }}</ref><ref> {{cite journal|title=Catecholaminergic polymorphic ventricular tachycardia|journal=Progress in Cardiovascular Diseases|date=July-August 2008|first=N|last=Liu|coauthors=Ruan Y, Priori SG|volume=51|issue=1|pages=23–30|pmid=18634915 |url=|format=|accessdate=2008-12-17|doi=10.1016/j.pcad.2007.10.005|DUPLICATE DATA: pmid=18634915 }}</ref><ref name='nejm'> {{cite journal|title=Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia|journal=New England Journal of Medicine|date=2008-05-08|first=Arthur|last=Wilde|coauthors=Zahurul A. Bhuiyan, Lia Crotti, Mario Facchini, Gaetano M. De Ferrari, Thomas Paul, Chiara Ferrandi, Dave R. Koolbergen, Attilio Odero, Peter J. Schwartz|volume=358|issue=19|pages=2024–9|pmid=18463378 |url=http://content.nejm.org/cgi/content/full/358/19/2024|format=|accessdate=2008-12-17|doi=10.1056/NEJMoa0708006|DUPLICATE DATA: pmid=18463378 }}</ref><ref name="ackerman"> {{cite web|url=http://www.hannahwernkememorialfoundation.com/Intv-Dr.Ackerman-CPVT.030507.pdf |title=Interview with Michael J. Ackerman, M.D., Ph.D. |accessdate=2009-02-09 |format=PDF |publisher=[[Hannah Wernke Memorial Foundation]] }}</ref>

==Signs and symptoms==
{{Expand-section|date=February 2009}}
===Syncopal===
CPVT may cause exercise-induced ventricular arrhythmias and/or syncope occurring during physical activity or acute emotion, but demonstrates no structural problems of the heart. Ventricular tachycardia may self-terminate or degenerate into ventricular fibrillation, causing sudden death without immediate cardiopulmonary resuscitation. 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.

==Diagnosis==
CPVT diagnosis is 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.<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}}</ref>+|url=http://cardiovascres.oxfordjournals.org/cgi/content/full/67/3/379|accessdate=2009-02-09 }}</ref>
* The Ryanodine receptor (RYR2) is involved in intracardiac Ca<sup>2+</sup> handling; Ca<sup>2+</sup> 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>
* Calsequestrin (CASQ2) is a calcium buffering protein of the [[sarcoplasmic reticulum]].

===Inheritance===
{{Expand-section|date=February 2009}}
==Treatment==
===Medication===
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 |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=12482795|format=|accessdate=2008-12-17|doi=10.1136/heart.89.1.66|DUPLICATE DATA: pmid=12482795|pmc=1767500 }}</ref>

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|unused_data=DUPLICATE DATA: doi=10.1038/nm.1942|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>

===Implantable cardioverter-defibrillator===
[[Implantable cardioverter-defibrillator]]s are used to prevent [[sudden death]].
===Sympathectomy===
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 name="nejm" /><ref>{{cite news | first=Sue | last=Hughes | coauthors= |authorlink= | title=Denervation successfully treats catecholaminergic polymorphic ventricular tachycardia | date=2008-05-07 | publisher=[[WebMD]] | url =http://www.theheart.org/editorial-program/862045.do | work =HeartWire | pages = | accessdate = 2008-12-17 | language = }}</ref><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=|accessdate=2008-12-18|doi=10.1016/j.hrthm.2008.07.007|DUPLICATE DATA: pmid=18760972 }}</ref>{{Clarify me|date=February 2009}}

==See also==
* [[Brugada syndrome]]
* [[Cardiac arrhythmia]]
* [[Long QT syndrome]]
* [[Sick sinus syndrome]]
* [[Sudden cardiac death]]

==References==
{{reflist}}

==Further reading==
* [http://www.theheart.org/article/618321.do Receptor defects cause inherited disorder CPVT]
* [http://www.theheart.org/article/862045.do Denervation successfully treats catecholaminergic polymorphic ventricular tachycardia]
* [http://www.theheart.org/article/517881.do Screening relatives of sudden-death victims provides likely cause of death and potentially saves lives]
* {{cite journal |author=Nakajima T, Kaneko Y, Taniguchi Y, ''et al.'' |title=The mechanism of catecholaminergic polymorphic ventricular tachycardia may be triggered activity due to delayed afterdepolarization |journal=Eur Heart J. |volume=18 |issue=3 |pages=530–1 |year=1997 |month=March |pmid=9076398 |doi= |url=http://eurheartj.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9076398}}
* [http://www.cidg.org/webcontent/Portals/1/RegistryEnrolement/CPVT%20Info%20Sheet.pdf Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Information sheet - Auckland District Health Board's Cardiac Inherited Disease Registry]
* [http://findarticles.com/p/articles/mi_m0EIN/is_2007_Oct_22/ai_n21054895 Clinical Data's PGxHealth Division Launches CPVT Cardiac Channelopathy Test - Business Wire]
* [http://www.sadsuk.org/Default.aspx?alias=www.sadsuk.org/cpvt SADS UK - What is CPVT]
* [http://www.medscape.com/viewarticle/561317_8 Arrhythmogenesis in CPVT: Lessons Learned from a CPVT Mouse Model]

==External links==
* [http://www.cidg.org/webcontent/Portals/1/RegistryEnrolement/CPVT%20Info%20Sheet.pdf Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Information Sheet]
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cvt GeneReviews article]
* [http://www.hannahwernkememorialfoundation.com/ The Hannah Wernke Memorial Foundation]

{{Circulatory system pathology}}

[[Category:Cardiac electrophysiology]]
[[Category:Medical emergencies]]
[[Category:Cardiology|Cardiology]]
[[Category:Mutation]]

[[it:Tachicardia ventricolare polimorfa catecolaminergica]]
[[pl:Wielokształtny częstoskurcz komorowy zależny od katecholamin]]
[[Category:2Fix]]