U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Jeong JH, Kim YG, Oh SK, Lee HS, Choi YY, Min K, Shim J, Park YM, Kim JH, Oh YS, Kim NH, Pak HN, On YK, Park HW, Hwang GS, Kim DK, Park YA, Park HS, Cho Y, Oh S, Choi JI, Kim YH
Europace 2023 Nov 2;25(11) doi: 10.1093/europace/euad313. PMID: 37949661Free PMC Article
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

Pannone L, Gauthey A, Conte G, Osei R, Campanale D, Baldi E, Berne P, Vicentini A, Vergara P, Sorgente A, Rootwelt-Norberg C, Della Rocca DG, Monaco C, Bisignani A, Miraglia V, Spolverini M, Paparella G, Overeinder I, Bala G, Almorad A, Ströker E, de Ravel T, Medeiros-Domingo A, Sieira J, Haugaa KH, Brugada P, La Meir M, Auricchio A, Chierchia GB, Van Dooren S, de Asmundis C
JACC Clin Electrophysiol 2023 Aug;9(8 Pt 1):1296-1306. Epub 2023 May 24 doi: 10.1016/j.jacep.2023.03.008. PMID: 37227348
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

Diagnosis

Alqarawi W, Tadros R, Roberts JD, Cheung CC, Green MS, Burwash IG, Steinberg C, Healey JS, Khan H, McIntyre C, Cadrin-Touringy J, Laksman ZWM, Simpson CS, Sanatani S, Gardner M, Angaran P, Ilhan E, Talajic M, Arbour L, Leather R, Seifer C, Joza J, Lee F, Lau L, Nair G, Wells G, Krahn AD
JACC Clin Electrophysiol 2023 Dec;9(12):2494-2503. Epub 2023 Oct 4 doi: 10.1016/j.jacep.2023.08.017. PMID: 37804262
Pannone L, Gauthey A, Conte G, Osei R, Campanale D, Baldi E, Berne P, Vicentini A, Vergara P, Sorgente A, Rootwelt-Norberg C, Della Rocca DG, Monaco C, Bisignani A, Miraglia V, Spolverini M, Paparella G, Overeinder I, Bala G, Almorad A, Ströker E, de Ravel T, Medeiros-Domingo A, Sieira J, Haugaa KH, Brugada P, La Meir M, Auricchio A, Chierchia GB, Van Dooren S, de Asmundis C
JACC Clin Electrophysiol 2023 Aug;9(8 Pt 1):1296-1306. Epub 2023 May 24 doi: 10.1016/j.jacep.2023.03.008. PMID: 37227348
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

Therapy

Rath B, Willy K, Ellermann C, Leitz P, Köbe J, Reinke F, Lange PS, Frommeyer G, Eckardt L
Clin Res Cardiol 2023 Dec;112(12):1748-1753. Epub 2022 Nov 19 doi: 10.1007/s00392-022-02125-9. PMID: 36401623Free PMC Article
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

Prognosis

Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E
Circ Genom Precis Med 2024 Feb;17(1):e004285. Epub 2023 Dec 7 doi: 10.1161/CIRCGEN.123.004285. PMID: 38059363
Pannone L, Gauthey A, Conte G, Osei R, Campanale D, Baldi E, Berne P, Vicentini A, Vergara P, Sorgente A, Rootwelt-Norberg C, Della Rocca DG, Monaco C, Bisignani A, Miraglia V, Spolverini M, Paparella G, Overeinder I, Bala G, Almorad A, Ströker E, de Ravel T, Medeiros-Domingo A, Sieira J, Haugaa KH, Brugada P, La Meir M, Auricchio A, Chierchia GB, Van Dooren S, de Asmundis C
JACC Clin Electrophysiol 2023 Aug;9(8 Pt 1):1296-1306. Epub 2023 May 24 doi: 10.1016/j.jacep.2023.03.008. PMID: 37227348
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
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

Clinical prediction guides

Pannone L, Gauthey A, Conte G, Osei R, Campanale D, Baldi E, Berne P, Vicentini A, Vergara P, Sorgente A, Rootwelt-Norberg C, Della Rocca DG, Monaco C, Bisignani A, Miraglia V, Spolverini M, Paparella G, Overeinder I, Bala G, Almorad A, Ströker E, de Ravel T, Medeiros-Domingo A, Sieira J, Haugaa KH, Brugada P, La Meir M, Auricchio A, Chierchia GB, Van Dooren S, de Asmundis C
JACC Clin Electrophysiol 2023 Aug;9(8 Pt 1):1296-1306. Epub 2023 May 24 doi: 10.1016/j.jacep.2023.03.008. PMID: 37227348
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
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
Nam GB
Circ J 2012;76(12):2723-31. Epub 2012 Nov 7 doi: 10.1253/circj.cj-12-1306. PMID: 23131759

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...