Details of Disease

General Information of Disease (ID: DISCPO8T)

• Disease Name: Polymorphic ventricular tachycardia
• Synonyms: ventricular tachycardia, polymorphic; polymorphic ventricular tachycardia
• Definition: A ventricular tachycardia that is irregular in rate and rhythm.
• Disease Hierarchy:
  DISBRUSE: Acute supraventricular tachycardia
  DISCPO8T: Polymorphic ventricular tachycardia
• Disease Identifiers:
  MONDO ID: MONDO_0020575
  UMLS CUI: C0344432
  MedGen ID: 138002
  HPO ID: HP:0031677
  SNOMED CT ID: 251159007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNH2	TTQ6VDM	moderate	Biomarker	[1]
HCN4	TTQP04A	Strong	Biomarker	[2]
KCNJ2	TTH7UO3	Strong	Genetic Variation	[3]
KCNQ1	TT846HF	Strong	Genetic Variation	[4]
SCN5A	TTZOVE0	Strong	Genetic Variation	[5]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASQ2	OT09MNQ8	Strong	Genetic Variation	[6]
KCNE5	OTF4JYGZ	Strong	Genetic Variation	[7]
RYR2	OT0PF19E	Strong	Genetic Variation	[8]

References

• [1] Short-Long Heart Rate Variation Increases Dispersion of Action Potential Duration in Long QT Type 2 Transgenic Rabbit Model.Sci Rep. 2019 Oct 16;9(1):14849. doi: 10.1038/s41598-019-51230-9.
• [2] 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.
• [3] Polymorphic ventricular tachycardia and KCNJ2 mutations.Heart Rhythm. 2004 Jul;1(2):235-41. doi: 10.1016/j.hrthm.2004.02.017.
• [4] Transient Outward K(+) Current (I(to)) Underlies the Right Ventricular Initiation of Polymorphic Ventricular Tachycardia in a Transgenic Rabbit Model of Long-QT Syndrome Type 1.Circ Arrhythm Electrophysiol. 2018 Jun;11(6):e005414. doi: 10.1161/CIRCEP.117.005414.
• [5] A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.Europace. 2016 Jun;18(6):897-904. doi: 10.1093/europace/euv058. Epub 2015 Mar 31.
• [6] Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.Eur J Hum Genet. 2003 Nov;11(11):888-91. doi: 10.1038/sj.ejhg.5201061.
• [7] Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular K(V) currents and predisposes to ventricular arrhythmia.FASEB J. 2019 Feb;33(2):2537-2552. doi: 10.1096/fj.201800502R. Epub 2018 Oct 5.
• [8] Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: leaky RyR2 channels under non-stress conditions.Int J Cardiol. 2015 Feb 1;180:228-36. doi: 10.1016/j.ijcard.2014.11.119. Epub 2014 Nov 25.