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Catecholaminergic polymorphic ventricular tachycardia 2(VTSIP; CPVT2)

MedGen UID:
393837
Concept ID:
C2677794
Disease or Syndrome
Synonyms: CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2
 
Gene (location): CASQ2 (1p13.1)
 
Monarch Initiative: MONDO:0012762
OMIM®: 611938

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 MedlinePlus Genetics
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.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized 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.  https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
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 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).
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).
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCatecholaminergic polymorphic ventricular tachycardia 2

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
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
Roston TM, Van Petegem F, Sanatani S
Curr Opin Cardiol 2017 Jan;32(1):78-85. doi: 10.1097/HCO.0000000000000360. PMID: 27861184

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
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
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
Kallas D, Lamba A, Roston TM, Arslanova A, Franciosi S, Tibbits GF, Sanatani S
Int J Mol Sci 2021 Aug 27;22(17) doi: 10.3390/ijms22179293. PMID: 34502196Free PMC Article
Roston TM, Van Petegem F, Sanatani S
Curr Opin Cardiol 2017 Jan;32(1):78-85. doi: 10.1097/HCO.0000000000000360. PMID: 27861184

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
Reyes Gaido OE, Pavlaki N, Granger JM, Mesubi OO, Liu B, Lin BL, Long A, Walker D, Mayourian J, Schole KL, Terrillion CE, Nkashama LJ, Hulsurkar MM, Dorn LE, Ferrero KM, Huganir RL, Müller FU, Wehrens XHT, Liu JO, Luczak ED, Bezzerides VJ, Anderson ME
Sci Transl Med 2023 Jun 21;15(701):eabq7839. doi: 10.1126/scitranslmed.abq7839. PMID: 37343080Free 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
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
Roston TM, Cunningham TC, Sanatani S
Cardiol Young 2017 Jan;27(S1):S49-S56. doi: 10.1017/S1047951116002237. PMID: 28084961

Therapy

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
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
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
Roston TM, Cunningham TC, Sanatani S
Cardiol Young 2017 Jan;27(S1):S49-S56. doi: 10.1017/S1047951116002237. PMID: 28084961
Roston TM, Van Petegem F, Sanatani S
Curr Opin Cardiol 2017 Jan;32(1):78-85. doi: 10.1097/HCO.0000000000000360. PMID: 27861184

Prognosis

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
Kallas D, Lamba A, Roston TM, Arslanova A, Franciosi S, Tibbits GF, Sanatani S
Int J Mol Sci 2021 Aug 27;22(17) doi: 10.3390/ijms22179293. PMID: 34502196Free PMC Article
Broendberg AK, Nielsen JC, Bjerre J, Pedersen LN, Kristensen J, Henriksen FL, Bundgaard H, Jensen HK
Heart 2017 Jun;103(12):901-909. Epub 2017 Feb 25 doi: 10.1136/heartjnl-2016-310509. PMID: 28237968
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

Clinical prediction guides

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
Shimamoto K, Ohno S, Kato K, Takayama K, Sonoda K, Fukuyama M, Makiyama T, Okamura S, Asakura K, Imanishi N, Kato Y, Sakaguchi H, Kamakura T, Wada M, Yamagata K, Ishibashi K, Inoue Y, Miyamoto K, Nagase S, Kusano K, Horie M, Aiba T
Heart 2022 May 12;108(11):840-847. doi: 10.1136/heartjnl-2021-320220. PMID: 35135837Free PMC Article
Roston TM, Cunningham TC, Sanatani S
Cardiol Young 2017 Jan;27(S1):S49-S56. doi: 10.1017/S1047951116002237. PMID: 28084961
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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