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Catecholaminergic polymorphic ventricular tachycardia(CVPT)

MedGen UID:
1803763
Concept ID:
C5574922
Disease or Syndrome
Synonyms: Catecholamine-induced polymorphic ventricular tachycardia; CVPT; Familial polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia
SNOMED CT: Catecholaminergic polymorphic ventricular tachycardia (419671004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0017990
OMIM® Phenotypic series: PS604772
Orphanet: ORPHA3286

Disease characteristics

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease. [from GeneReviews]
Authors:
Carlo Napolitano  |  Andrea Mazzanti  |  Raffaella Bloise, et. al.   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCatecholaminergic polymorphic ventricular tachycardia

Professional guidelines

PubMed

Writing Committee Members, Shah MJ, Silka MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Bergen NHV, Wackel PL
Heart Rhythm 2021 Nov;18(11):1888-1924. Epub 2021 Jul 29 doi: 10.1016/j.hrthm.2021.07.038. PMID: 34363988
Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, James CA, Jimmy Juang JM, Kääb S, Kaufman ES, Krahn AD, Lubitz SA, MacLeod H, Morillo CA, Nademanee K, Probst V, Saarel EV, Sacilotto L, Semsarian C, Sheppard MN, Shimizu W, Skinner JR, Tfelt-Hansen J, Wang DW
Heart Rhythm 2021 Jan;18(1):e1-e50. Epub 2020 Oct 19 doi: 10.1016/j.hrthm.2020.10.010. PMID: 33091602Free PMC Article
Wilde AAM, Amin A
Int J Cardiol 2017 Jun 15;237:53-55. Epub 2017 Mar 18 doi: 10.1016/j.ijcard.2017.03.063. PMID: 28343764

Recent clinical studies

Etiology

Tfelt-Hansen J, Garcia R, Albert C, Merino J, Krahn A, Marijon E, Basso C, Wilde AAM, Haugaa KH
Europace 2023 Aug 25;25(8) doi: 10.1093/europace/euad203. PMID: 37622576Free PMC Article
Mazzanti A, Kukavica D, Trancuccio A, Memmi M, Bloise R, Gambelli P, Marino M, Ortíz-Genga M, Morini M, Monteforte N, Giordano U, Keegan R, Tomasi L, Anastasakis A, Davis AM, Shimizu W, Blom NA, Santiago DJ, Napolitano C, Monserrat L, Priori SG
JAMA Cardiol 2022 May 1;7(5):504-512. doi: 10.1001/jamacardio.2022.0219. PMID: 35353122Free PMC Article
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM
Nat Rev Dis Primers 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103Free PMC Article
Pérez-Riera AR, Barbosa-Barros R, de Rezende Barbosa MPC, Daminello-Raimundo R, de Lucca AA Jr, de Abreu LC
Ann Noninvasive Electrocardiol 2018 Jul;23(4):e12512. Epub 2017 Oct 19 doi: 10.1111/anec.12512. PMID: 29048771Free PMC Article
McKenna WJ, Maron BJ, Thiene G
Circ Res 2017 Sep 15;121(7):722-730. doi: 10.1161/CIRCRESAHA.117.309711. PMID: 28912179

Diagnosis

Tfelt-Hansen J, Garcia R, Albert C, Merino J, Krahn A, Marijon E, Basso C, Wilde AAM, Haugaa KH
Europace 2023 Aug 25;25(8) doi: 10.1093/europace/euad203. PMID: 37622576Free PMC Article
Kallas D, Roberts JD, Sanatani S, Roston TM
Card Electrophysiol Clin 2023 Sep;15(3):319-329. Epub 2023 Jun 20 doi: 10.1016/j.ccep.2023.05.003. PMID: 37558302
Krahn AD, Tfelt-Hansen J, Tadros R, Steinberg C, Semsarian C, Han HC
JACC Clin Electrophysiol 2022 Jun;8(6):806-821. doi: 10.1016/j.jacep.2021.12.014. PMID: 35738861
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM
Nat Rev Dis Primers 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103Free PMC Article
McKenna WJ, Maron BJ, Thiene G
Circ Res 2017 Sep 15;121(7):722-730. doi: 10.1161/CIRCRESAHA.117.309711. PMID: 28912179

Therapy

Kallas D, Roberts JD, Sanatani S, Roston TM
Card Electrophysiol Clin 2023 Sep;15(3):319-329. Epub 2023 Jun 20 doi: 10.1016/j.ccep.2023.05.003. PMID: 37558302
Mazzanti A, Kukavica D, Trancuccio A, Memmi M, Bloise R, Gambelli P, Marino M, Ortíz-Genga M, Morini M, Monteforte N, Giordano U, Keegan R, Tomasi L, Anastasakis A, Davis AM, Shimizu W, Blom NA, Santiago DJ, Napolitano C, Monserrat L, Priori SG
JAMA Cardiol 2022 May 1;7(5):504-512. doi: 10.1001/jamacardio.2022.0219. PMID: 35353122Free PMC Article
Wall JJ, Iyer RV
Pediatr Emerg Care 2017 Jun;33(6):427-431. doi: 10.1097/PEC.0000000000001156. PMID: 28570361
Imberti JF, Underwood K, Mazzanti A, Priori SG
Heart Lung Circ 2016 Aug;25(8):777-83. Epub 2016 Feb 16 doi: 10.1016/j.hlc.2016.01.012. PMID: 26948768
Leenhardt A, Denjoy I, Guicheney P
Circ Arrhythm Electrophysiol 2012 Oct;5(5):1044-52. Epub 2012 Sep 27 doi: 10.1161/CIRCEP.111.962027. PMID: 23022705

Prognosis

Kline J, Costantini O
Med Clin North Am 2019 Sep;103(5):809-820. doi: 10.1016/j.mcna.2019.05.001. PMID: 31378327
McKenna WJ, Maron BJ, Thiene G
Circ Res 2017 Sep 15;121(7):722-730. doi: 10.1161/CIRCRESAHA.117.309711. PMID: 28912179
Roston TM, Cunningham TC, Sanatani S
Cardiol Young 2017 Jan;27(S1):S49-S56. doi: 10.1017/S1047951116002237. PMID: 28084961
Imberti JF, Underwood K, Mazzanti A, Priori SG
Heart Lung Circ 2016 Aug;25(8):777-83. Epub 2016 Feb 16 doi: 10.1016/j.hlc.2016.01.012. PMID: 26948768
Francis J, Sankar V, Nair VK, Priori SG
Heart Rhythm 2005 May;2(5):550-4. doi: 10.1016/j.hrthm.2005.01.024. PMID: 15840485

Clinical prediction guides

Shen L, Liu S, Hu F, Zhang Z, Li J, Lai Z, Zheng L, Yao Y
J Am Heart Assoc 2023 Dec 19;12(24):e031768. Epub 2023 Dec 8 doi: 10.1161/JAHA.123.031768. PMID: 38063176Free PMC Article
Piccini JP, Russo AM, Sharma PS, Kron J, Tzou W, Sauer W, Park DS, Birgersdotter-Green U, Frankel DS, Healey JS, Hummel J, Koruth J, Linz D, Mittal S, Nair DG, Nattel S, Noseworthy PA, Steinberg BA, Trayanova NA, Wan EY, Wissner E, Zeitler EP, Wang PJ
Circ Arrhythm Electrophysiol 2022 Dec;15(12):e009911. Epub 2022 Nov 28 doi: 10.1161/CIRCEP.121.009911. PMID: 36441565
Pérez-Riera AR, Barbosa-Barros R, de Rezende Barbosa MPC, Daminello-Raimundo R, de Lucca AA Jr, de Abreu LC
Ann Noninvasive Electrocardiol 2018 Jul;23(4):e12512. Epub 2017 Oct 19 doi: 10.1111/anec.12512. PMID: 29048771Free PMC Article
Roston TM, Cunningham TC, Sanatani S
Cardiol Young 2017 Jan;27(S1):S49-S56. doi: 10.1017/S1047951116002237. PMID: 28084961
Francis J, Sankar V, Nair VK, Priori SG
Heart Rhythm 2005 May;2(5):550-4. doi: 10.1016/j.hrthm.2005.01.024. PMID: 15840485

Recent systematic reviews

Medeiros P, Santos M, Arantes C, Pereira VH, Rocha S
Heart Lung 2023 Jul-Aug;60:1-7. Epub 2023 Feb 28 doi: 10.1016/j.hrtlng.2023.02.012. PMID: 36863123
Lawley CM, Tester M, Sanatani S, Prendiville T, Beach CM, Vinocur JM, Horie M, Uhm JS, Khongphatthanayothin A, Ayers MD, Starling L, Yoshida Y, Shah MJ, Skinner JR, Turner C
Heart Rhythm 2022 Nov;19(11):1826-1833. Epub 2022 Oct 11 doi: 10.1016/j.hrthm.2022.08.003. PMID: 37850595
Roston TM, Jones K, Hawkins NM, Bos JM, Schwartz PJ, Perry F, Ackerman MJ, Laksman ZWM, Kaul P, Lieve KVV, Atallah J, Krahn AD, Sanatani S
Heart Rhythm 2018 Dec;15(12):1791-1799. Epub 2018 Jul 3 doi: 10.1016/j.hrthm.2018.06.046. PMID: 30063211
Olde Nordkamp LR, Postema PG, Knops RE, van Dijk N, Limpens J, Wilde AA, de Groot JR
Heart Rhythm 2016 Feb;13(2):443-54. Epub 2015 Sep 15 doi: 10.1016/j.hrthm.2015.09.010. PMID: 26385533
Clausen H, Pflaumer A, Kamberi S, Davis A
Pacing Clin Electrophysiol 2013 Mar;36(3):391-401. Epub 2012 Dec 18 doi: 10.1111/pace.12050. PMID: 23252797

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