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Catecholaminergic polymorphic ventricular tachycardia 4(CPVT4)

MedGen UID:
766961
Concept ID:
C3554047
Disease or Syndrome
Synonym: CALM1-Related Catecholaminergic Polymorphic Ventricular Tachycardia
 
Gene (location): CALM1 (14q32.11)
 
Monarch Initiative: MONDO:0013966
OMIM®: 614916

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

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Premature ventricular contraction
MedGen UID:
56236
Concept ID:
C0151636
Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.

Professional guidelines

PubMed

Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM
JAMA Cardiol 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370Free PMC Article
Bennett R, Campbell T, Kumar S
Heart Lung Circ 2020 Apr;29(4):594-606. Epub 2020 Jan 3 doi: 10.1016/j.hlc.2019.12.009. PMID: 32014423
Ingles J, Macciocca I, Morales A, Thomson K
Heart Lung Circ 2020 Apr;29(4):505-511. Epub 2019 Nov 29 doi: 10.1016/j.hlc.2019.10.014. PMID: 31813745

Recent clinical studies

Etiology

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
Ingles J, Macciocca I, Morales A, Thomson K
Heart Lung Circ 2020 Apr;29(4):505-511. Epub 2019 Nov 29 doi: 10.1016/j.hlc.2019.10.014. PMID: 31813745
Márquez MF, Totomoch-Serra A, Rueda A, Avelino-Cruz JE, Gallegos-Cortez A
Rev Invest Clin 2019;71(4):226-236. doi: 10.24875/RIC.19002939. PMID: 31448784
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
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

Diagnosis

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
Kim JA, Chelu MG
Tex Heart Inst J 2021 Sep 1;48(4) doi: 10.14503/THIJ-20-7482. PMID: 34669951Free PMC Article
Márquez MF, Totomoch-Serra A, Rueda A, Avelino-Cruz JE, Gallegos-Cortez A
Rev Invest Clin 2019;71(4):226-236. doi: 10.24875/RIC.19002939. PMID: 31448784
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
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

Therapy

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
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
Salvage SC, Habib ZF, Matthews HR, Jackson AP, Huang CL
Biochem Soc Trans 2021 Nov 1;49(5):1941-1961. doi: 10.1042/BST20200604. PMID: 34643236Free PMC Article
Winbo A, Paterson DJ
Heart Lung Circ 2020 Apr;29(4):529-537. Epub 2019 Dec 16 doi: 10.1016/j.hlc.2019.11.002. PMID: 31959550
Varian K, Tang WHW
Curr Heart Fail Rep 2017 Aug;14(4):321-330. doi: 10.1007/s11897-017-0346-8. PMID: 28660543Free PMC Article

Prognosis

Yan Y, Tang L, Wang X, Zhou K, Hu F, Duan H, Liu X, Hua Y, Wang C
Orphanet J Rare Dis 2023 Dec 5;18(1):380. doi: 10.1186/s13023-023-02991-0. PMID: 38053087Free PMC Article
Brohus M, Arsov T, Wallace DA, Jensen HH, Nyegaard M, Crotti L, Adamski M, Zhang Y, Field MA, Athanasopoulos V, Baró I, Ribeiro de Oliveira-Mendes BB, Redon R, Charpentier F, Raju H, DiSilvestre D, Wei J, Wang R, Rafehi H, Kaspi A, Bahlo M, Dick IE, Chen SRW, Cook MC, Vinuesa CG, Overgaard MT, Schwartz PJ
Europace 2021 Mar 8;23(3):441-450. doi: 10.1093/europace/euaa272. PMID: 33200177Free PMC Article
Sallam K, Kodo K, Wu JC
Circ J 2014;78(4):784-94. Epub 2014 Mar 17 doi: 10.1253/circj.cj-14-0182. PMID: 24632794Free PMC Article
van der Werf C, Zwinderman AH, Wilde AA
Europace 2012 Feb;14(2):175-83. Epub 2011 Sep 4 doi: 10.1093/europace/eur277. PMID: 21893508
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
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, Yuchi Z, Kannankeril PJ, Hathaway J, Vinocur JM, Etheridge SP, Potts JE, Maginot KR, Salerno JC, Cohen MI, Hamilton RM, Pflaumer A, Mohammed S, Kimlicka L, Kanter RJ, LaPage MJ, Collins KK, Gebauer RA, Temple JD, Batra AS, Erickson C, Miszczak-Knecht M, Kubuš P, Bar-Cohen Y, Kantoch M, Thomas VC, Hessling G, Anderson C, Young ML, Choi SHJ, Cabrera Ortega M, Lau YR, Johnsrude CL, Fournier A, Van Petegem F, Sanatani S
Europace 2018 Mar 1;20(3):541-547. doi: 10.1093/europace/euw389. PMID: 28158428Free PMC Article
Sallam K, Kodo K, Wu JC
Circ J 2014;78(4):784-94. Epub 2014 Mar 17 doi: 10.1253/circj.cj-14-0182. PMID: 24632794Free PMC Article
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

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
Wang G, Zhao N, Zhong S, Wang Y, Li J
Medicine (Baltimore) 2019 Aug;98(34):e16961. doi: 10.1097/MD.0000000000016961. PMID: 31441899Free PMC Article
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
McNamara DA, Goldberger JJ, Berendsen MA, Huffman MD
Cochrane Database Syst Rev 2015 Oct 7;2015(10):CD011168. doi: 10.1002/14651858.CD011168.pub2. PMID: 26445202Free PMC Article

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