Catecholaminergic polymorphic ventricular tachycardia
Last updated 18 Aug 2020
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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterised by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.
Description
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterised by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.
If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Bidirectional tachycardia induced by catecholamines
Catecholamine-induced polymorphic ventricular tachycardia
CPVT
Familial polymorphic ventricular tachycardia
FPVT
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Further reading and references
- Catecholaminergic polymorphic ventricular tachycardia; MedlinePlus, National Library of Medicine.
- Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC, Lahrouchi N, Makita N, Norrish G, Odland HH, Ohno S, Papagiannis J, Parati G, Sekarski N, Tveten K, Vatta M, Webster G, Wilde AAM, Wojciak J, George AL, Ackerman MJ, Schwartz PJ. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.
- Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC. Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. Circ Arrhythm Electrophysiol. 2016 Aug;9(8):10.1161/CIRCEP.116.004161 e004161. doi: 10.1161/CIRCEP.116.004161.
- Leenhardt A, Denjoy I, Guicheney P. Catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol. 2012 Oct;5(5):1044-52. doi: 10.1161/CIRCEP.111.962027. Epub 2012 Sep 27. No abstract available.
- Lieve KV, van der Werf C, Wilde AA. Catecholaminergic Polymorphic Ventricular Tachycardia. Circ J. 2016 May 25;80(6):1285-91. doi: 10.1253/circj.CJ-16-0326. Epub 2016 May 13.
- Moscu-Gregor A, Marschall C, Muntjes C, Schonecker A, Schuessler-Hahn F, Hohendanner F, Parwani AS, Boldt LH, Ott CE, Bennewiz A, Paul T, Krause U, Rost I. Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. J Cardiovasc Electrophysiol. 2020 Jun;31(6):1527-1535. doi: 10.1111/jce.14446. Epub 2020 Mar 22.
- Napolitano C, Mazzanti A, Bloise R, Priori SG. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [updated 2022 Jun 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1289/
- Nyegaard M, Overgaard MT, Sondergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Borglum AD. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet. 2012 Oct 5;91(4):703-12. doi: 10.1016/j.ajhg.2012.08.015.
- Obeyesekere MN, Sy RW, Leong-Sit P, Gula LJ, Yee R, Skanes AC, Klein GJ, Krahn AD. Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. Future Cardiol. 2012 May;8(3):439-50. doi: 10.2217/fca.12.12.
- Pflaumer A, Davis AM. Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. Heart Lung Circ. 2012 Feb;21(2):96-100. doi: 10.1016/j.hlc.2011.10.008. Epub 2011 Nov 25.
- Refaat MM, Hassanieh S, Scheinman M. Catecholaminergic Polymorphic Ventricular Tachycardia. Card Electrophysiol Clin. 2016 Mar;8(1):233-7. doi: 10.1016/j.ccep.2015.10.035.
- Roston TM, Cunningham TC, Sanatani S. Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Cardiol Young. 2017 Jan;27(S1):S49-S56. doi: 10.1017/S1047951116002237.
- Roston TM, Van Petegem F, Sanatani S. Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. Curr Opin Cardiol. 2017 Jan;32(1):78-85. doi: 10.1097/HCO.0000000000000360.
- Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
- van der Werf C, Wilde AA. Catecholaminergic polymorphic ventricular tachycardia: from bench to bedside. Heart. 2013 Apr;99(7):497-504. doi: 10.1136/heartjnl-2012-302033. Epub 2013 Feb 6. No abstract available.
- van der Werf C, Zwinderman AH, Wilde AA. Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments. Europace. 2012 Feb;14(2):175-83. doi: 10.1093/europace/eur277. Epub 2011 Sep 4.
- Wall JJ, Iyer RV. Catecholaminergic Polymorphic Ventricular Tachycardia. Pediatr Emerg Care. 2017 Jun;33(6):427-431. doi: 10.1097/PEC.0000000000001156.
- Wleklinski MJ, Kannankeril PJ, Knollmann BC. Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. J Physiol. 2020 Jul;598(14):2817-2834. doi: 10.1113/JP276757. Epub 2020 Apr 27.
- Ylanen K, Poutanen T, Hiippala A, Swan H, Korppi M. Catecholaminergic polymorphic ventricular tachycardia. Eur J Pediatr. 2010 May;169(5):535-42. doi: 10.1007/s00431-010-1154-2. Epub 2010 Feb 9.
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