Paroxysmal familial ventricular fibrillation

MedGen UID:: 83310
•Concept ID:: C0340493
•: Disease or Syndrome

Synonyms:	Idiopathic Ventricular Fibrillation; Idiopathic ventricular fibrillation, non Brugada type; Paroxysmal ventricular fibrillation
SNOMED CT:	Paroxysmal familial ventricular fibrillation (233915000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SCN5A, DPP6

Monarch Initiative:	MONDO:0100234
Orphanet:	ORPHA228140

Definition

A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence. [from ORDO]

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

Disorder of cardiovascular system
- 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
        Ventricular fibrillation, paroxysmal familial, type 1

Professional guidelines

PubMed

Idiopathic ventricular fibrillation: is it a case for genetic testing?

van der Crabben SN, Wilde AAM
Herzschrittmacherther Elektrophysiol 2024 Mar;35(1):19-24. Epub 2024 Feb 9 doi: 10.1007/s00399-024-00994-3. PMID: 38334831 Free PMC Article

Brugada syndrome and syncope: a practical approach for diagnosis and treatment.

Mascia G, Bona RD, Ameri P, Canepa M, Porto I, Parati G, Crotti L, Brignole M
Europace 2021 Jul 18;23(7):996-1002. doi: 10.1093/europace/euaa370. PMID: 33367713

Genetic testing in idiopathic ventricular fibrillation: Searching for a needle in a haystack?

Mellor G, Behr ER
Heart Rhythm 2017 Jul;14(7):1041-1042. Epub 2017 Feb 10 doi: 10.1016/j.hrthm.2017.02.004. PMID: 28192205

See all (8)

Recent clinical studies

Therapy

Paroxysmal familial ventricular fibrillation.

McRae JR, Wagner GS, Rogers MC, Canent RV
J Pediatr 1974 Apr;84(4):515-8. doi: 10.1016/s0022-3476(74)80670-0. PMID: 4834245

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Paroxysmal familial ventricular fibrillation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity