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Ventricular fibrillation, paroxysmal familial, type 1(VF1)

MedGen UID:: 414502
•Concept ID:: C2751898
•: Disease or Syndrome

Synonym:	Ventricular Fibrillation, Paroxysmal Familial, 1

Gene (location): Gene(s) directly associated with this condition or phenotype.	SCN5A (3p22.2)

Monarch Initiative:	MONDO:0011376
OMIM®:	603829

Definition

Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see 601144) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (601144). Genetic Heterogeneity of Paroxysmal Familial Ventricular Fibrillation Another familial form of VF (VF2; 612956) is caused by mutation in the DPP6 gene (126141) on chromosome 7q26. [from OMIM]

Clinical features

From HPO

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.

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Tachycardia

MedGen UID:: 21453
•Concept ID:: C0039231
•: Finding

A rapid heartrate that exceeds the range of the normal resting heartrate for age.

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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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Abnormality of the cardiovascular system

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, type 1

Recent clinical studies

Etiology

Long-term prognosis in patients with non-type 1 Brugada electrocardiogram: Results from a large Japanese cohort of idiopathic ventricular fibrillation.

Shinohara T, Takagi M, Kamakura T, Sekiguchi Y, Yokoyama Y, Aihara N, Hiraoka M, Aonuma K; Japan Idiopathic Ventricular Fibrillation Study (J-IVFS) Investigators
Ann Noninvasive Electrocardiol 2021 Jul;26(4):e12831. Epub 2021 Feb 19 doi: 10.1111/anec.12831. PMID: 33608945 Free PMC Article

Clinical characteristics and risk factors of arrhythmia during follow-up of patients with idiopathic ventricular fibrillation.

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

Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient.

Shimoyama T, Hayashi H, Suzuki F, Nishiyama Y, Miyamoto Y, Aiba T, Shimizu W, Kimura K
J Clin Neurosci 2020 Apr;74:242-244. Epub 2020 Feb 13 doi: 10.1016/j.jocn.2020.02.007. PMID: 32063450

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

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.

Yagihara N, Watanabe H, Barnett P, Duboscq-Bidot L, Thomas AC, Yang P, Ohno S, Hasegawa K, Kuwano R, Chatel S, Redon R, Schott JJ, Probst V, Koopmann TT, Bezzina CR, Wilde AA, Nakano Y, Aiba T, Miyamoto Y, Kamakura S, Darbar D, Donahue BS, Shigemizu D, Tanaka T, Tsunoda T, Suda M, Sato A, Minamino T, Endo N, Shimizu W, Horie M, Roden DM, Makita N
J Am Heart Assoc 2016 Sep 13;5(9) doi: 10.1161/JAHA.116.003644. PMID: 27625342 Free PMC Article

See all (12)

Diagnosis

Echocardiographic deformation imaging unmasks global and regional mechanical dysfunction in patients with idiopathic ventricular fibrillation: A multicenter case-control study.

Groeneveld SA, van der Ree MH, Taha K, de Bruin-Bon RHA, Cramer MJ, Teske AJ, Bouma BJ, Amin AS, Wilde AAM, Postema PG, Hassink RJ
Heart Rhythm 2021 Oct;18(10):1666-1672. Epub 2021 May 28 doi: 10.1016/j.hrthm.2021.05.030. PMID: 34058391

Long-term prognosis in patients with non-type 1 Brugada electrocardiogram: Results from a large Japanese cohort of idiopathic ventricular fibrillation.

Clinical characteristics and risk factors of arrhythmia during follow-up of patients with idiopathic ventricular fibrillation.

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

Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient.

Shimoyama T, Hayashi H, Suzuki F, Nishiyama Y, Miyamoto Y, Aiba T, Shimizu W, Kimura K
J Clin Neurosci 2020 Apr;74:242-244. Epub 2020 Feb 13 doi: 10.1016/j.jocn.2020.02.007. PMID: 32063450

Exercise-related severe cardiac events.

See all (11)

Therapy

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

Circadian pattern of fibrillatory events in non-Brugada-type idiopathic ventricular fibrillation with a focus on J waves.

Aizawa Y, Sato M, Ohno S, Horie M, Takatsuki S, Fukuda K, Chinushi M, Usui T, Aonuma K, Hosaka Y, Haissaguerre M, Aizawa Y
Heart Rhythm 2014 Dec;11(12):2261-6. Epub 2014 Aug 15 doi: 10.1016/j.hrthm.2014.08.022. PMID: 25131664

See all (2)

Prognosis

Long-term prognosis in patients with non-type 1 Brugada electrocardiogram: Results from a large Japanese cohort of idiopathic ventricular fibrillation.

Clinical characteristics and risk factors of arrhythmia during follow-up of patients with idiopathic ventricular fibrillation.

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

Exercise-related severe cardiac events.

Circadian pattern of fibrillatory events in non-Brugada-type idiopathic ventricular fibrillation with a focus on J waves.

Characterization of early repolarization during ajmaline provocation and exercise tolerance testing.

Bastiaenen R, Raju H, Sharma S, Papadakis M, Chandra N, Muggenthaler M, Govindan M, Batchvarov VN, Behr ER
Heart Rhythm 2013 Feb;10(2):247-54. Epub 2012 Oct 23 doi: 10.1016/j.hrthm.2012.10.032. PMID: 23089898

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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

Echocardiographic deformation imaging unmasks global and regional mechanical dysfunction in patients with idiopathic ventricular fibrillation: A multicenter case-control study.

Clinical characteristics and risk factors of arrhythmia during follow-up of patients with idiopathic ventricular fibrillation.

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

Exercise-related severe cardiac events.

Circadian pattern of fibrillatory events in non-Brugada-type idiopathic ventricular fibrillation with a focus on J waves.

See all (6)