Details of Disease

General Information of Disease (ID: DISKGB3F)

• Disease Name: Catecholaminergic polymorphic ventricular tachycardia 1
• Synonyms: CPVT1; ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy; ventricular tachycardia, stress-induced polymorphic; arrhythmogenic right ventricular dysplasia, familial, 2; familial arrhythmogenic right ventricular dysplasia 2; arrhythmogenic right ventricular dysplasia type 2; RYR2 familial isolated arrhythmogenic right ventricular dysplasia; ARVD2; catecholaminergic polymorphic ventricular tachycardia type 1; arrhythmogenic right ventricular cardiomyopathy 2; arrhythmogenic right ventricular dysplasia, familial, type 2; ventricular tachycardia, catecholaminergic polymorphic, 1; familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2; ARVC2; catecholaminergic polymorphic ventricular tachycardia 1; arrhythmogenic right ventricular dysplasia 2; CVPT1
• Definition: Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.
• Disease Hierarchy:
  DISSAS1A: Catecholaminergic polymorphic ventricular tachycardia
  DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
  DISKGB3F: Catecholaminergic polymorphic ventricular tachycardia 1
• Disease Identifiers:
  MONDO ID: MONDO_0011484
  UMLS CUI: C1631597
  OMIM ID: 604772
  MedGen ID: 351513

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1S	TT94HRF	Limited	Biomarker	[1]
KCNH2	TTQ6VDM	moderate	Genetic Variation	[2]
KCNQ1	TT846HF	moderate	Genetic Variation	[2]
SCN5A	TTZOVE0	moderate	Genetic Variation	[2]
ASPH	TT2KHP7	Strong	Genetic Variation	[3]
KCNJ2	TTH7UO3	Strong	Biomarker	[4]
SCN10A	TT90XZ8	Strong	Genetic Variation	[5]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANK2	OTWB4R1Y	Limited	Genetic Variation	[6]
CAVIN1	OTFO915U	Limited	Biomarker	[7]
KCNE1	OTZNQUW9	Limited	Biomarker	[8]
CALM2	OTNYA92F	moderate	Biomarker	[9]
CNTN3	OTC1274J	Strong	Biomarker	[10]
FKBP1B	OT8CMPB2	Strong	Genetic Variation	[11]
KCNE2	OTUO214Y	Strong	Biomarker	[8]
PICALM	OTQVRPMQ	Strong	Genetic Variation	[12]
SNAP91	OTE3EXWZ	Strong	Genetic Variation	[12]
TECRL	OTXLSNCP	Strong	Biomarker	[13]
THEM5	OTS3UKDP	Strong	Genetic Variation	[14]
TRDN	OTXVE9SF	Strong	Genetic Variation	[15]
RYR2	OT0PF19E	Definitive	Autosomal dominant	[16]

References

• [1] Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum.Biochim Biophys Acta. 2011 May;1813(5):948-64. doi: 10.1016/j.bbamcr.2010.11.009. Epub 2010 Nov 27.
• [2] Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects.Heart Lung Circ. 2019 Jan;28(1):22-30. doi: 10.1016/j.hlc.2018.09.007. Epub 2018 Oct 4.
• [3] Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
• [4] Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia.Ann Noninvasive Electrocardiol. 2019 May;24(3):e12623. doi: 10.1111/anec.12623. Epub 2019 Jan 7.
• [5] Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A.Stem Cell Res. 2019 Aug;39:101509. doi: 10.1016/j.scr.2019.101509. Epub 2019 Jul 24.
• [6] The evolving role of ankyrin-B in cardiovascular disease.Heart Rhythm. 2017 Dec;14(12):1884-1889. doi: 10.1016/j.hrthm.2017.07.032. Epub 2017 Jul 29.
• [7] Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.J Clin Endocrinol Metab. 2019 Mar 1;104(3):957-960. doi: 10.1210/jc.2018-01331.
• [8] Genetic screening in sudden cardiac death in the young can save future lives.Int J Legal Med. 2016 Jan;130(1):59-66. doi: 10.1007/s00414-015-1237-8. Epub 2015 Jul 31.
• [9] Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish.Ann N Y Acad Sci. 2019 Jul;1448(1):19-29. doi: 10.1111/nyas.14033. Epub 2019 Apr 2.
• [10] Health status of cardiac genetic disease patients and their at-risk relatives.Int J Cardiol. 2013 May 25;165(3):448-53. doi: 10.1016/j.ijcard.2011.08.083. Epub 2011 Sep 17.
• [11] Stabilization of cardiac ryanodine receptor prevents intracellular calcium leak and arrhythmias.Proc Natl Acad Sci U S A. 2006 May 16;103(20):7906-10. doi: 10.1073/pnas.0602133103. Epub 2006 May 3.
• [12] 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.
• [13] A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.Eur J Med Genet. 2019 Jul;62(7):103631. doi: 10.1016/j.ejmg.2019.01.018. Epub 2019 Feb 18.
• [14] The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?.Int J Cardiol. 2018 Jan 1;250:139-145. doi: 10.1016/j.ijcard.2017.10.016. Epub 2017 Oct 5.
• [15] Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.Mol Ther. 2020 Jan 8;28(1):171-179. doi: 10.1016/j.ymthe.2019.09.012. Epub 2019 Sep 13.
• [16] Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. Circ Genom Precis Med. 2019 May;12(5):e002510. doi: 10.1161/CIRCGEN.119.002510.