Details of Disease

General Information of Disease (ID: DISRM7IX)

Disease Name Paroxysmal familial ventricular fibrillation
Synonyms
paroxysmal familial ventricular fibrillation (disorder); paroxysmal familial ventricular fibrillation; idiopathic ventricular fibrillation, non Brugada type; ventricular fibrillation, paroxysmal familial; paroxysmal ventricular fibrillation; IVF; idiopathic ventricular fibrillation
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.
Disease Hierarchy
DIS7IN76: Ventricular fibrillation
DISRM7IX: Paroxysmal familial ventricular fibrillation
Disease Identifiers
MONDO ID
MONDO_0100234
MESH ID
C537182
UMLS CUI
C0340493
MedGen ID
83310
Orphanet ID
228140
SNOMED CT ID
233915000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN5A TTZOVE0 Supportive Autosomal dominant [1]
SCN5A TTZOVE0 moderate Genetic Variation [2]
HCN4 TTQP04A Strong Genetic Variation [3]
KCNQ1 TT846HF Strong Biomarker [4]
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This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNE5 OTF4JYGZ Limited Genetic Variation [5]
RYR2 OT0PF19E Limited Genetic Variation [6]
DPP6 OTWW3H0K Supportive Autosomal dominant [7]
SCN5A OTGYZWR6 Supportive Autosomal dominant [1]
ACTN2 OT9FOLD7 Strong Genetic Variation [8]
PHF12 OTECRO7N Strong Genetic Variation [9]
PICALM OTQVRPMQ Strong Biomarker [10]
PKP2 OTJOVF68 Strong Genetic Variation [11]
RANGRF OTKQC813 Strong Biomarker [12]
SCN3B OTNTQT9O Strong Genetic Variation [13]
SNAP91 OTE3EXWZ Strong Biomarker [10]
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⏷ Show the Full List of 11 DOT(s)

References

1 A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett. 2000 Aug 11;479(1-2):29-34. doi: 10.1016/s0014-5793(00)01875-5.
2 Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.J Am Heart Assoc. 2016 Sep 13;5(9):e003644. doi: 10.1161/JAHA.116.003644.
3 Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.J Biol Chem. 2004 Jun 25;279(26):27194-8. doi: 10.1074/jbc.M311953200. Epub 2004 Apr 30.
4 Emerging therapeutic targets in the short QT syndrome.Expert Opin Ther Targets. 2018 May;22(5):439-451. doi: 10.1080/14728222.2018.1470621.
5 KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.Circ Arrhythm Electrophysiol. 2011 Jun;4(3):352-61. doi: 10.1161/CIRCEP.110.959619. Epub 2011 Apr 14.
6 Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death.FEBS Lett. 2014 Aug 25;588(17):2898-902. doi: 10.1016/j.febslet.2014.07.007. Epub 2014 Jul 15.
7 Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009 Apr;84(4):468-76. doi: 10.1016/j.ajhg.2009.02.009. Epub 2009 Mar 12.
8 Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.BMC Med Genet. 2014 Sep 16;15:99. doi: 10.1186/s12881-014-0099-0.
9 Unique cardiac Purkinje fiber transient outward current -subunit composition: a potential molecular link to idiopathic ventricular fibrillation.Circ Res. 2013 May 10;112(10):1310-22. doi: 10.1161/CIRCRESAHA.112.300227. Epub 2013 Mar 26.
10 Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.
11 Sudden Cardiac Arrest and Rare Genetic Variants in the Community.Circ Cardiovasc Genet. 2016 Apr;9(2):147-53. doi: 10.1161/CIRCGENETICS.115.001263. Epub 2016 Jan 22.
12 MOG1: a new susceptibility gene for Brugada syndrome.Circ Cardiovasc Genet. 2011 Jun;4(3):261-8. doi: 10.1161/CIRCGENETICS.110.959130. Epub 2011 Mar 29.
13 Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.Cardiovasc Res. 2010 Jun 1;86(3):392-400. doi: 10.1093/cvr/cvp417. Epub 2009 Dec 30.