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Ventricular fibrillation, paroxysmal familial, 2(VF2)

MedGen UID:
442823
Concept ID:
C2751829
Disease or Syndrome
Synonym: VF2
 
Gene (location): DPP6 (7q36.2)
 
Monarch Initiative: MONDO:0013063
OMIM®: 612956

Definition

Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene. [from MONDO]

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).
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.
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.

Professional guidelines

PubMed

Frontera A, Vlachos K, Kitamura T, Mahida S, Pillois X, Fahy G, Marquie C, Cappato R, Stuart G, Defaye P, Kaski JP, Ector J, Maltret A, Scanu P, Pasquie JL, Deisenhofer I, Blankoff I, Scherr D, Manninger M, Aizawa Y, Koutbi L, Denis A, Pambrun T, Ritter P, Sacher F, Hocini M, Maury P, Jaïs P, Bordachar P, Haïssaguerre M, Derval N
J Am Heart Assoc 2019 May 7;8(9):e011172. doi: 10.1161/JAHA.118.011172. PMID: 31057083Free PMC Article

Recent clinical studies

Etiology

Surget E, Duchateau J, Marchant J, Maury P, Walton R, Lavergne T, Gandjbakhch E, Leenhardt A, Extramiana F, Haïssaguerre M
J Cardiovasc Electrophysiol 2023 Mar;34(3):615-623. Epub 2023 Feb 14 doi: 10.1111/jce.15833. PMID: 36748854
Belhassen B, Tovia-Brodie O
JACC Clin Electrophysiol 2022 Jul;8(7):918-936. Epub 2022 Apr 28 doi: 10.1016/j.jacep.2022.04.013. PMID: 35597766
Vicent L, Ariza-Solé A, González-Juanatey JR, Uribarri A, Ortiz J, López de Sá E, Sans-Roselló J, Querol CT, Codina P, Sousa-Casasnovas I, Martínez-Sellés M; Cardiac Arrest and Myocardial Infarction Notified After Marathon Or Similar effort (CAMINAMOS) registry
Scand J Med Sci Sports 2018 Apr;28(4):1404-1411. Epub 2018 Jan 8 doi: 10.1111/sms.13037. PMID: 29237243
Kautzner J, Peichl P
Int J Cardiol 2017 Jun 15;237:29-33. Epub 2017 Apr 1 doi: 10.1016/j.ijcard.2017.03.135. PMID: 28433554
Honarbakhsh S, Srinivasan N, Kirkby C, Firman E, Tobin L, Finlay M, Hunter RJ, Murphy C, Lowe MD, Schilling RJ, Lambiase PD
Europace 2017 Nov 1;19(11):1874-1880. doi: 10.1093/europace/euw251. PMID: 27738067

Diagnosis

Groeneveld SA, Kirkels FP, Cramer MJ, Evertz R, Haugaa KH, Postema PG, Prakken NHJ, Teske AJ, Wilde AAM, Velthuis BK, Nijveldt R, Hassink RJ
J Am Heart Assoc 2022 Aug 16;11(16):e025364. Epub 2022 Aug 5 doi: 10.1161/JAHA.121.025364. PMID: 35929463Free PMC Article
Haïssaguerre M, Nademanee W, Hocini M, Duchateau J, André C, Lavergne T, Takigawa M, Sacher F, Derval N, Pambrun T, Jais P, Walton R, Potse M, Vigmond E, Dubois R, Bernus O
Card Electrophysiol Clin 2019 Dec;11(4):699-709. doi: 10.1016/j.ccep.2019.08.011. PMID: 31706476
Vicent L, Ariza-Solé A, González-Juanatey JR, Uribarri A, Ortiz J, López de Sá E, Sans-Roselló J, Querol CT, Codina P, Sousa-Casasnovas I, Martínez-Sellés M; Cardiac Arrest and Myocardial Infarction Notified After Marathon Or Similar effort (CAMINAMOS) registry
Scand J Med Sci Sports 2018 Apr;28(4):1404-1411. Epub 2018 Jan 8 doi: 10.1111/sms.13037. PMID: 29237243
Kautzner J, Peichl P
Int J Cardiol 2017 Jun 15;237:29-33. Epub 2017 Apr 1 doi: 10.1016/j.ijcard.2017.03.135. PMID: 28433554
Honarbakhsh S, Srinivasan N, Kirkby C, Firman E, Tobin L, Finlay M, Hunter RJ, Murphy C, Lowe MD, Schilling RJ, Lambiase PD
Europace 2017 Nov 1;19(11):1874-1880. doi: 10.1093/europace/euw251. PMID: 27738067

Therapy

Belhassen B, Tovia-Brodie O
JACC Clin Electrophysiol 2022 Jul;8(7):918-936. Epub 2022 Apr 28 doi: 10.1016/j.jacep.2022.04.013. PMID: 35597766
Roten L, Derval N, Maury P, Mahida S, Pascale P, Leenhardt A, Jesel L, Deisenhofer I, Kautzner J, Probst V, Rollin A, Ruidavets JB, Ferrières J, Sacher F, Heg D, Scherr D, Komatsu Y, Daly M, Denis A, Shah A, Hocini M, Jaïs P, Haïssaguerre M
Heart Rhythm 2016 Apr;13(4):894-902. Epub 2015 Dec 1 doi: 10.1016/j.hrthm.2015.11.020. PMID: 26592849
Shinohara T, Ebata Y, Ayabe R, Fukui A, Okada N, Yufu K, Nakagawa M, Takahashi N
Heart Rhythm 2014 Aug;11(8):1441-5. Epub 2014 May 6 doi: 10.1016/j.hrthm.2014.05.001. PMID: 24813378
Aizawa Y, Takatsuki S, Kimura T, Nishiyama N, Fukumoto K, Tanimoto Y, Tanimoto K, Miyoshi S, Suzuki M, Yokoyama Y, Chinushi M, Watanabe I, Ogawa S, Aizawa Y, Antzelevitch C, Fukuda K
Heart Rhythm 2013 Jul;10(7):1028-35. Epub 2013 Mar 14 doi: 10.1016/j.hrthm.2013.03.013. PMID: 23499623Free PMC Article
Coleman MA, Bos JM, Johnson JN, Owen HJ, Deschamps C, Moir C, Ackerman MJ
Circ Arrhythm Electrophysiol 2012 Aug 1;5(4):782-8. Epub 2012 Jul 11 doi: 10.1161/CIRCEP.112.971754. PMID: 22787014Free PMC Article

Prognosis

Belhassen B, Tovia-Brodie O
JACC Clin Electrophysiol 2022 Jul;8(7):918-936. Epub 2022 Apr 28 doi: 10.1016/j.jacep.2022.04.013. PMID: 35597766
Vicent L, Ariza-Solé A, González-Juanatey JR, Uribarri A, Ortiz J, López de Sá E, Sans-Roselló J, Querol CT, Codina P, Sousa-Casasnovas I, Martínez-Sellés M; Cardiac Arrest and Myocardial Infarction Notified After Marathon Or Similar effort (CAMINAMOS) registry
Scand J Med Sci Sports 2018 Apr;28(4):1404-1411. Epub 2018 Jan 8 doi: 10.1111/sms.13037. PMID: 29237243
Trenkwalder T, King R, Kaess BM, Hengstenberg C, Schunkert H, Ittermann T, Felix SB, Busch M, Dörr M, Reinhard W
Am J Cardiol 2017 Jul 1;120(1):92-97. Epub 2017 Apr 12 doi: 10.1016/j.amjcard.2017.03.254. PMID: 28495433
Honarbakhsh S, Srinivasan N, Kirkby C, Firman E, Tobin L, Finlay M, Hunter RJ, Murphy C, Lowe MD, Schilling RJ, Lambiase PD
Europace 2017 Nov 1;19(11):1874-1880. doi: 10.1093/europace/euw251. PMID: 27738067
Nam GB
Circ J 2012;76(12):2723-31. Epub 2012 Nov 7 doi: 10.1253/circj.cj-12-1306. PMID: 23131759

Clinical prediction guides

Belhassen B, Tovia-Brodie O
JACC Clin Electrophysiol 2022 Jul;8(7):918-936. Epub 2022 Apr 28 doi: 10.1016/j.jacep.2022.04.013. PMID: 35597766
Stampe NK, Jespersen CB, Glinge C, Bundgaard H, Tfelt-Hansen J, Winkel BG
J Cardiovasc Electrophysiol 2020 Oct;31(10):2677-2686. Epub 2020 Aug 7 doi: 10.1111/jce.14696. PMID: 33462911
Vicent L, Ariza-Solé A, González-Juanatey JR, Uribarri A, Ortiz J, López de Sá E, Sans-Roselló J, Querol CT, Codina P, Sousa-Casasnovas I, Martínez-Sellés M; Cardiac Arrest and Myocardial Infarction Notified After Marathon Or Similar effort (CAMINAMOS) registry
Scand J Med Sci Sports 2018 Apr;28(4):1404-1411. Epub 2018 Jan 8 doi: 10.1111/sms.13037. PMID: 29237243
Honarbakhsh S, Srinivasan N, Kirkby C, Firman E, Tobin L, Finlay M, Hunter RJ, Murphy C, Lowe MD, Schilling RJ, Lambiase PD
Europace 2017 Nov 1;19(11):1874-1880. doi: 10.1093/europace/euw251. PMID: 27738067
Nam GB
Circ J 2012;76(12):2723-31. Epub 2012 Nov 7 doi: 10.1253/circj.cj-12-1306. PMID: 23131759

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