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Ventricular fibrillation, paroxysmal familial, 2(VF2)

MedGen UID:: 442823
•Concept ID:: C2751829
•: Disease or Syndrome

Synonym:	VF2

Gene (location): Gene(s) directly associated with this condition or phenotype.	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).

See: Feature record | Search on this feature

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.

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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.

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Abnormality of the cardiovascular system
- Premature ventricular contraction
- Ventricular fibrillation
Constitutional symptom
- Sudden cardiac death

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVParoxysmal familial ventricular fibrillation
- CROGVVentricular fibrillation, paroxysmal familial, 2
- CROGVVentricular fibrillation, paroxysmal familial, type 1

Abnormality of the cardiovascular system
- Abnormal cardiovascular system physiology
  - Abnormality of cardiovascular system electrophysiology
    - Cardiac arrhythmia
      - Genetic cardiac rhythm disease
        Paroxysmal familial ventricular fibrillation
        Ventricular fibrillation, paroxysmal familial, 2

Professional guidelines

PubMed

Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation.

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: 37949661 Free PMC Article

Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.

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: 31057083 Free PMC Article

See all (2)

Recent clinical studies

Etiology

Clinical characteristics of electrical storm in patients with early repolarization syndrome.

Morita H, Ueoka A, Mizuno T, Masuda T, Asada S, Ejiri K, Miyamoto M, Kawada S, Nakagawa K, Nishii N, Yuasa S
Heart Rhythm 2024 May;21(5):562-570. Epub 2024 Jan 17 doi: 10.1016/j.hrthm.2024.01.016. PMID: 38242221

Short-Coupled Idiopathic Ventricular Fibrillation: A Literature Review With Extended Follow-Up.

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

Exercise-related severe cardiac events.

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

Catheter ablation to prevent sudden cardiac death.

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

Long-Term Outcome of Patients Initially Diagnosed With Idiopathic Ventricular Fibrillation: A Descriptive Study.

Visser M, van der Heijden JF, van der Smagt JJ, Doevendans PA, Wilde AA, Loh P, Hassink RJ
Circ Arrhythm Electrophysiol 2016 Oct;9(10) doi: 10.1161/CIRCEP.116.004258. PMID: 27733492

See all (49)

Diagnosis

Clinical characteristics of electrical storm in patients with early repolarization syndrome.

The Spectrum of Idiopathic Ventricular Fibrillation and J-Wave Syndromes: Novel Mapping Insights.

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

Exercise-related severe cardiac events.

Catheter ablation to prevent sudden cardiac death.

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

Idiopathic ventricular fibrillation associated with early repolarization which was unmasked by a sodium channel blocker after catheter ablation of atrial fibrillation.

Yagishita A, Yamauchi Y, Obayashi T, Hirao K
J Interv Card Electrophysiol 2014 Nov;41(2):145-6. Epub 2014 Sep 17 doi: 10.1007/s10840-014-9933-8. PMID: 25227864

See all (48)

Therapy

Outcome of patients with idiopathic ventricular fibrillation and correlation with ECG markers of early repolarization.

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: 36401623 Free PMC Article

Short-Coupled Idiopathic Ventricular Fibrillation: A Literature Review With Extended Follow-Up.

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

Idiopathic ventricular fibrillation associated with early repolarization which was unmasked by a sodium channel blocker after catheter ablation of atrial fibrillation.

Yagishita A, Yamauchi Y, Obayashi T, Hirao K
J Interv Card Electrophysiol 2014 Nov;41(2):145-6. Epub 2014 Sep 17 doi: 10.1007/s10840-014-9933-8. PMID: 25227864

Combination therapy of cilostazol and bepridil suppresses recurrent ventricular fibrillation related to J-wave syndromes.

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

Ventricular fibrillation associated with complete right bundle branch block.

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: 23499623 Free PMC Article

See all (17)

Prognosis

Clinical characteristics of electrical storm in patients with early repolarization syndrome.

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and 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

Short-Coupled Idiopathic Ventricular Fibrillation: A Literature Review With Extended Follow-Up.

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

Exercise-related severe cardiac events.

Idiopathic ventricular fibrillation associated with early repolarization which was unmasked by a sodium channel blocker after catheter ablation of atrial fibrillation.

Yagishita A, Yamauchi Y, Obayashi T, Hirao K
J Interv Card Electrophysiol 2014 Nov;41(2):145-6. Epub 2014 Sep 17 doi: 10.1007/s10840-014-9933-8. PMID: 25227864

See all (33)

Clinical prediction guides

Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS Substudy.

Belhassen B, Conte G, Steinberg C, Whitaker J, Khan HR, Laredo M, Doldi F, Ho R, Tadros R, Dinov B, Chorin E, Hansom S, Waintraub X, Eckardt L, Jankelson L, Peichl P, Mellor G, Sy RW, Rattanawong P, Stojkovic S, Garber L, Suna G, Kautzner J, Chan KH, Srivathsan K, Tedrow U, Havranek S, Murgatroyd F, Shauer A, Winkel BG, Page SP, Milman A, Lador A, Ayou R, Sellal JM, Chevalier P, García-Fernández FJ, Reichlin T, Shah D, Nazer B, Bermudez-Jimenez F, Nagase S, Morita H, Nam GB, Pappone C, Lambiase PD, Strohmer B, Stuehlinger M, Gandjbakhch E, Schulze-Bahr E, Krahn AD, Tovia-Brodie O; THESIS Investigators
JACC Clin Electrophysiol 2024 Aug;10(8):1794-1809. Epub 2024 Jun 5 doi: 10.1016/j.jacep.2024.03.036. PMID: 38842971

Clinical characteristics of electrical storm in patients with early repolarization syndrome.

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Short-Coupled Idiopathic Ventricular Fibrillation: A Literature Review With Extended Follow-Up.

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

Exercise-related severe cardiac events.

See all (28)

Recent systematic reviews

Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review.

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

See all (1)

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Ventricular fibrillation, paroxysmal familial, 2(VF2)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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