Catecholaminergic polymorphic ventricular tachycardia

Articleissues
citationstyle = July 2008
expert = Medicine
expand = July 2008
update = July 2008
technical = July 2008Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 33816
ICD10 =
ICD9 =
ICDO =
OMIM = 604772
OMIM_mult = OMIM2|611938 | MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited heart rhythm disorder caused by a mutation in voltage gated ion channels and resulting in arrhythmias.

Presentation

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.

Inheritance

CPVT has an autosomal dominant inheritance pattern. There are two genes currently associated with CPVT: RYR2 (majority) and CASQ2 (1-2%).
* The Ryanodine receptor (RYR2) is involved in intracardiac Ca2+ handling; Ca2+ overload triggers abnormal cardiac activity. [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= |url=http://www.mayoclinicproceedings.com/inside.asp?AID=711&UID= ]
* Calsequestrin (CASQ2) is a calcium buffering protein of the sarcoplasmic reticulum.

Diagnosis

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. The resting electrocardiogram is usually unremarkable but can show sinus bradycardia and a prominent "U". [cite journal |author=Aizawa Y, Komura S, Okada S, "et al" |title=Distinct U wave changes in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) |journal=Int Heart J |volume=47 |issue=3 |pages=381–9 |year=2006 |month=May |pmid=16823244 |doi=10.1536/ihj.47.381 |url=http://joi.jlc.jst.go.jp/JST.JSTAGE/ihj/47.381?from=PubMed |format=dead link|date=July 2008 – ^{[http://scholar.google.co.uk/scholar?hl=en&lr=&q=intitle%3ADistinct+U+wave+changes+in+patients+with+catecholaminergic+polymorphic+ventricular+tachycardia+%28CPVT%29&as_publication=Int+Heart+J&as_ylo=2006&as_yhi=2006&btnG=Search Scholar search]} ]

Genetic testing is sometimes available, [ [http://www.sads.org/index.php/Genetic-Testing/Genetic-Testing-How-to-Navigate-the-Maze.html Genetic Testing: How to Navigate the Maze - SADS Foundation] ] and is particularly useful for presymptomatic diagnosis of related individuals.

Treatment

CPVT is treated with beta blockers, verapamil or an implantable cardioverter-defibrillator.

References

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]
* [http://eurheartj.oxfordjournals.org/cgi/reprint/18/3/530.pdf Oxford Journals - European Heart Journal, Volume 18, Number 3, Pp. 530-531]
* [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]

ee also

* Brugada syndrome
* Cardiac arrhythmia
* Long QT syndrome
* Sick sinus syndrome
* Sudden cardiac death

External links

* [http://www.cidg.org/webcontent/Portals/1/RegistryEnrolement/CPVT%20Info%20Sheet.pdf Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Information Sheet]
* [http://www.hannahwernkememorialfoundation.com/ The Hannah Wernke Memorial Foundation]