IllnessCatecholaminergic polymorphic ventricular tachycardia, differentialdiagnosis [EMQN 2023]

Summary

Short information

Comprehensive differential diagnostic panel for Catecholaminergic polymorphic ventricular tachycardia containing altogether 7 guideline-curated core and core candidate genes

TP0030

Number of genes

7 Accredited laboratory test

Examined sequence length

20,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CALM1	450	114180	NM_006888.6	AD
CALM2	450	114182	NM_001743.6	AD
CALM3	450	114183	NM_005184.4	AD
CASQ2	1200	114251	NM_001232.4	AR
RYR2	14904	180902	NM_001035.3	AD
TECRL	1164	617242	NM_001010874.5	AR
TRDN	2190	603283	NM_006073.4	AR

Informations about the disease

Clinical Comment

Severe arrhythmogenic disorder with adrenergically induced ventricular tachycardia manifesting as syncope + sudden death

Synonyms

Alias: Bidirectional tachycardia induced by catecholamine
Alias: Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT
Alias: Double tachycardia induced by catecholamines
Alias: Malignant paroxysmal ventricular tachycardia
Alias: Multifocal ventricular premature beats
Allelic: Arrhythmogenic right ventricular dysplasia 2 (RYR2)
Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
Allelic: Long QT syndrome 14 (CALM1)
Allelic: Long QT syndrome 16 (CALM3)
Allelic: Short QT syndrome 3 (KCNJ2)
Andersen [-Tawil] syndrome (KCNJ2)
Catecholaminergic polymorphic ventricular tachycardia [MONDO:0017990] (KCNJ2)
Long QT syndrome 15 (CALM2)
Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
Ventricular tachycardia, catecholaminergic polymorphic, 6 (CALM3)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined