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

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

Idiopathic Ventricular Fibrillation: The Struggle for Definition, Diagnosis, and Follow-Up.

Visser M, van der Heijden JF, Doevendans PA, Loh P, Wilde AA, Hassink RJ
Circ Arrhythm Electrophysiol 2016 May;9(5) doi: 10.1161/CIRCEP.115.003817. PMID: 27103090

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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)

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Paroxysmal familial ventricular fibrillation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

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