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Catecholaminergic polymorphic ventricular tachycardia 3(CPVT3)

MedGen UID:
462813
Concept ID:
C3151463
Disease or Syndrome
Synonyms: CPVT3; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
 
Gene (location): TECRL (4q13.1)
 
Monarch Initiative: MONDO:0013529
OMIM®: 614021

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

Additional description

From OMIM
Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see 192500) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by Devalla et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772.  http://www.omim.org/entry/614021

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Paroxysmal ventricular tachycardia
MedGen UID:
18315
Concept ID:
C0030591
Disease or Syndrome
Episodes of ventricular tachycardia that have a sudden onset and ending.
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.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Polymorphic ventricular tachycardia
MedGen UID:
138002
Concept ID:
C0344432
Disease or Syndrome
A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).
Prolonged QTc interval
MedGen UID:
294666
Concept ID:
C1560305
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
Bidirectional tachycardia
MedGen UID:
418944
Concept ID:
C2930902
Disease or Syndrome
Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.

Professional guidelines

PubMed

Pflaumer A, Davis AM
Heart Lung Circ 2019 Mar;28(3):366-369. Epub 2018 Nov 7 doi: 10.1016/j.hlc.2018.10.016. PMID: 30446242
Spoonamore KG, Ware SM
Heart Rhythm 2016 Mar;13(3):789-97. Epub 2015 Nov 12 doi: 10.1016/j.hrthm.2015.11.013. PMID: 26582592
Obeyesekere MN, Sy RW, Leong-Sit P, Gula LJ, Yee R, Skanes AC, Klein GJ, Krahn AD
Future Cardiol 2012 May;8(3):439-50. doi: 10.2217/fca.12.12. PMID: 22642633

Recent clinical studies

Etiology

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
Cheung CC, Lieve KV, Roston TM, van der Ree MH, Deyell MW, Andrade JG, Laksman ZW, Nannenberg EA, Tadros R, Pang B, Rutberg J, Green MS, Conacher S, Seifer CM, Roberts JD, Steinberg C, Sanatani S, Wilde AA, Krahn AD
JACC Clin Electrophysiol 2019 Mar;5(3):387-394. Epub 2018 Dec 26 doi: 10.1016/j.jacep.2018.10.019. PMID: 30898243
Adler A, Viskin S
Cardiol Clin 2015 Aug;33(3):433-40. doi: 10.1016/j.ccl.2015.04.011. PMID: 26115829
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

Diagnosis

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
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
Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ
Eur Heart J 2023 Sep 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418. PMID: 37528649Free 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
Liu N, Colombi B, Raytcheva-Buono EV, Bloise R, Priori SG
Herz 2007 May;32(3):212-7. doi: 10.1007/s00059-007-2975-2. PMID: 17497254

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
Bergeman AT, Lieve KVV, Kallas D, Bos JM, Rosés I Noguer F, Denjoy I, Zorio E, Kammeraad JAE, Peltenburg PJ, Tobert K, Aiba T, Atallah J, Drago F, Batra AS, Brugada R, Borggrefe M, Clur SB, Cox MGPJ, Davis A, Dhillon S, Etheridge SP, Fischbach P, Franciosi S, Haugaa K, Horie M, Johnsrude C, Kane AM, Krause U, Kwok SY, LaPage MJ, Ohno S, Probst V, Roberts JD, Robyns T, Sacher F, Semsarian C, Skinner JR, Swan H, Tavacova T, Tisma-Dupanovic S, Tfelt-Hansen J, Yap SC, Kannankeril PJ, Leenhardt A, Till J, Sanatani S, Tanck MWT, Ackerman MJ, Wilde AAM, van der Werf C
Circulation 2023 Dec 19;148(25):2029-2037. Epub 2023 Oct 27 doi: 10.1161/CIRCULATIONAHA.123.064786. PMID: 37886885Free 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
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
Obeyesekere MN, Sy RW, Leong-Sit P, Gula LJ, Yee R, Skanes AC, Klein GJ, Krahn AD
Future Cardiol 2012 May;8(3):439-50. doi: 10.2217/fca.12.12. PMID: 22642633

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
Bergeman AT, Lieve KVV, Kallas D, Bos JM, Rosés I Noguer F, Denjoy I, Zorio E, Kammeraad JAE, Peltenburg PJ, Tobert K, Aiba T, Atallah J, Drago F, Batra AS, Brugada R, Borggrefe M, Clur SB, Cox MGPJ, Davis A, Dhillon S, Etheridge SP, Fischbach P, Franciosi S, Haugaa K, Horie M, Johnsrude C, Kane AM, Krause U, Kwok SY, LaPage MJ, Ohno S, Probst V, Roberts JD, Robyns T, Sacher F, Semsarian C, Skinner JR, Swan H, Tavacova T, Tisma-Dupanovic S, Tfelt-Hansen J, Yap SC, Kannankeril PJ, Leenhardt A, Till J, Sanatani S, Tanck MWT, Ackerman MJ, Wilde AAM, van der Werf C
Circulation 2023 Dec 19;148(25):2029-2037. Epub 2023 Oct 27 doi: 10.1161/CIRCULATIONAHA.123.064786. PMID: 37886885Free PMC Article
Michowitz Y, Viskin S, Rosso R
Card Electrophysiol Clin 2016 Sep;8(3):593-600. Epub 2016 Jun 18 doi: 10.1016/j.ccep.2016.04.008. PMID: 27521092
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
Ylänen K, Poutanen T, Hiippala A, Swan H, Korppi M
Eur J Pediatr 2010 May;169(5):535-42. Epub 2010 Feb 9 doi: 10.1007/s00431-010-1154-2. PMID: 20143088

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
Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ
Eur Heart J 2023 Sep 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418. PMID: 37528649Free 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
Vacanti G, Maragna R, Priori SG, Mazzanti A
Curr Opin Pediatr 2017 Oct;29(5):552-559. doi: 10.1097/MOP.0000000000000537. PMID: 28759457
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

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
Sgrò A, Drake TM, Lopez-Ayala P, Phan K
Congenit Heart Dis 2019 Nov;14(6):1102-1112. Epub 2019 Oct 16 doi: 10.1111/chd.12855. PMID: 31621201
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
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
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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