Catecholaminergic polymorphic ventricular tachycardia
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| Catecholaminergic polymorphic ventricular tachycardia | |
|---|---|
| Classification and external resources | |
| OMIM | 604772 611938 |
| DiseasesDB | 33816 |
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an electrophysiological disorder of the heart that occurs in 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 deaths in young people.
First recognized in 1975, the voltage gated ion channel mutation intermittently causes the heart to enter a life threatening state of arrhythmia as response to the natural release of catecholamines. The most common symptom is 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.[1][2][3][4]
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[edit] Signs and symptoms
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[edit] 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.
[edit] 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.[5]
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| CPVT1 | 604772 | RYR2 | 1q42.1-q43 |
| CPVT2 | 611938 | CASQ2 | 1p13.3-p11 |
- The Ryanodine receptor (RYR2) is involved in intracardiac Ca2+ handling; Ca2+ overload triggers abnormal cardiac activity.[6]
- Calsequestrin (CASQ2) is a calcium buffering protein of the sarcoplasmic reticulum.
[edit] Inheritance
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[edit] Treatment
[edit] Medication
Medications to treat CPVT include beta blockers and verapamil.[7]
According to recent research published in Nature Medicine, flecainide inhibits the release of the cardiac ryanodine receptor–mediated Ca2+, and is therefore believed to medicate the underlying molecular cause of CPVT in both mice and humans.[8]
[edit] Implantable cardioverter-defibrillator
Implantable cardioverter-defibrillators are used to prevent sudden death.
[edit] 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.[3][9][10][clarification needed]
[edit] See also
[edit] References
- ^ Iyer, Vivek; Antonis A. Armoundas (2006). Unraveling the Mechanisms of Catecholaminergic Polymorphic Ventricular Tachycardia. "Proc. IEEE Eng Med Biol Soc.". Conference proceedings : ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference (Cardiovascular Research Center, Massachusetts General Hospital: IEEE) Suppl: 6761–4. doi:10.1109/IEMBS.2006.260941. PMID 17959506. http://embc2006.njit.edu/pdf/279918_Iyer.pdf.
- ^ Liu, N; Ruan Y, Priori SG (July–August 2008). "Catecholaminergic polymorphic ventricular tachycardia". Progress in Cardiovascular Diseases 51 (1): 23–30. doi:10.1016/j.pcad.2007.10.005. PMID 18634915.
- ^ a b Wilde, Arthur; Zahurul A. Bhuiyan, Lia Crotti, Mario Facchini, Gaetano M. De Ferrari, Thomas Paul, Chiara Ferrandi, Dave R. Koolbergen, Attilio Odero, Peter J. Schwartz (2008-05-08). "Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia". New England Journal of Medicine 358 (19): 2024–9. doi:10.1056/NEJMoa0708006. PMID 18463378. http://content.nejm.org/cgi/content/full/358/19/2024. Retrieved 2008-12-17.
- ^ "Interview with Michael J. Ackerman, M.D., Ph.D." (PDF). Hannah Wernke Memorial Foundation. http://www.hannahwernkememorialfoundation.com/Intv-Dr.Ackerman-CPVT.030507.pdf. Retrieved 2009-02-09.[dead link]
- ^ Napolitano, Carlo; Silvia G. Priori (May 2007). "Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia" (PDF). Heart Rhythm 4 (5): 675–8. doi:10.1016/j.hrthm.2006.12.048. PMID 17467641. http://www.iranep.org/Articles/CPVT+viewpoint+Rhythm+2007.pdf. Retrieved 2008-12-17.[dead link]
- ^ Wehrens XH, Marks AR (November 2004). "Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations". Mayo Clin. Proc. 79 (11): 1367–71. doi:10.4065/79.11.1367. PMID 15544013. http://www.mayoclinicproceedings.com/inside.asp?AID=711&UID=.[dead link]
- ^ Sumitomo, Naokata; 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 (January 2003). "Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death". Heart 89 (1): 66–70. doi:10.1136/heart.89.1.66. PMC 1767500. PMID 12482795. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1767500.
- ^ Watanabe, Hiroshi; 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 (2009-04-01). "Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans". Nature Medicine 15 (4): 380–383. doi:10.1038/nm.1942. PMC 2904954. PMID 19330009. http://www.nature.com/nm/journal/v15/n4/abs/nm.1942.html. Retrieved 2009-05-04.
- ^ Hughes, Sue (2008-05-07). "Denervation successfully treats catecholaminergic polymorphic ventricular tachycardia". HeartWire (WebMD). http://www.theheart.org/editorial-program/862045.do. Retrieved 2008-12-17.
- ^ Scott, P.A.; A.J. Sandilands, G.E. Morris, J.M. Morgan (October 2008). "Successful treatment of catecholaminergic polymorphic ventricular tachycardia with bilateral thoracoscopic sympathectomy". Heart Rhythm 5 (10): 1461–1463. doi:10.1016/j.hrthm.2008.07.007. PMID 18760972.
[edit] Further reading
- Receptor defects cause inherited disorder CPVT
- Denervation successfully treats catecholaminergic polymorphic ventricular tachycardia
- Screening relatives of sudden-death victims provides likely cause of death and potentially saves lives
- Nakajima T, Kaneko Y, Taniguchi Y, et al. (March 1997). "The mechanism of catecholaminergic polymorphic ventricular tachycardia may be triggered activity due to delayed afterdepolarization". Eur Heart J. 18 (3): 530–1. PMID 9076398. http://eurheartj.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9076398.
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Information sheet - Auckland District Health Board's Cardiac Inherited Disease Registry
- Clinical Data's PGxHealth Division Launches CPVT Cardiac Channelopathy Test - Business Wire
- SADS UK - What is CPVT
- Arrhythmogenesis in CPVT: Lessons Learned from a CPVT Mouse Model
[edit] External links
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Information Sheet
- GeneReviews article
- The Hannah Wernke Memorial Foundation
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