MCID: ERL052
MIFTS: 17

Early Repolarization Associated with Ventricular Fibrillation

Aliases & Classifications for Early Repolarization Associated with Ventricular Fibrillation

MalaCards integrated aliases for Early Repolarization Associated with Ventricular Fibrillation:

Name: Early Repolarization Associated with Ventricular Fibrillation 57 29 6 73
Early Repolarization Syndrome 57

External Ids:

OMIM 57 613601
MedGen 42 C3150852
UMLS 73 C3150852

Summaries for Early Repolarization Associated with Ventricular Fibrillation

OMIM : 57 Electrocardiographic (ECG) early repolarization, defined as an elevation of the QRS-ST junction (J-point) of at least 1.0 mm (0.1 mV) from baseline in the inferior or lateral lead, manifest as QRS slurring or notching, is a common ECG finding that is generally considered to be benign but may be associated with ventricular fibrillation in some patients (summary by Haissaguerre et al., 2008). (613601)

MalaCards based summary : Early Repolarization Associated with Ventricular Fibrillation, also known as early repolarization syndrome, is related to brugada syndrome and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Early Repolarization Associated with Ventricular Fibrillation is CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2).

Related Diseases for Early Repolarization Associated with Ventricular Fibrillation

Diseases related to Early Repolarization Associated with Ventricular Fibrillation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 10.1
2 ventricular fibrillation, paroxysmal familial, 1 10.0
3 progressive familial heart block, type ia 9.7
4 progressive familial heart block, type ib 9.7
5 right bundle branch block 9.7
6 hypokalemia 9.7
7 acute disseminated encephalomyelitis 9.7
8 syncope 9.7

Graphical network of the top 20 diseases related to Early Repolarization Associated with Ventricular Fibrillation:



Diseases related to Early Repolarization Associated with Ventricular Fibrillation

Symptoms & Phenotypes for Early Repolarization Associated with Ventricular Fibrillation

Clinical features from OMIM:

613601

Drugs & Therapeutics for Early Repolarization Associated with Ventricular Fibrillation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Early Repolarization Syndrome: Define the Risk, Stratify the Coverage and Understand the Causes - Clinical and Genetic Study Unknown status NCT02847039
2 Gated SPECT Abnormality With J Point Elevation Completed NCT03472898
3 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032
4 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450

Search NIH Clinical Center for Early Repolarization Associated with Ventricular Fibrillation

Genetic Tests for Early Repolarization Associated with Ventricular Fibrillation

Genetic tests related to Early Repolarization Associated with Ventricular Fibrillation:

# Genetic test Affiliating Genes
1 Early Repolarization Associated with Ventricular Fibrillation 29

Anatomical Context for Early Repolarization Associated with Ventricular Fibrillation

Publications for Early Repolarization Associated with Ventricular Fibrillation

Articles related to Early Repolarization Associated with Ventricular Fibrillation:

(show all 14)
# Title Authors Year
1
A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study. ( 28493952 )
2017
2
Ventricular Fibrillation Due to Early Repolarization Syndrome in the Wake of Hypothermia Due to Fulminant Acute Disseminated Encephalomyelitis. ( 28931785 )
2017
3
Early repolarization syndrome and Brugada syndrome: Similar or different? ( 27940004 )
2017
4
A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome. ( 26820605 )
2016
5
A patient with early repolarization syndrome and concurrent Brugada syndrome: Demonstration of a different pathophysiology? ( 27529593 )
2016
6
Variants of Brugada Syndrome and Early Repolarization Syndrome: An Expanded Concept of J-Wave Syndrome. ( 28000227 )
2016
7
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. ( 24439875 )
2014
8
Role of mutations in L-type calcium channel genes in Brugada syndrome, early repolarization syndrome, and idiopathic ventricular fibrillation associated with right bundle branch block. ( 23739544 )
2013
9
Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. ( 22056721 )
2012
10
Unusual substrate underlying Brugada syndrome and early repolarization syndrome revealed in unusual circadian and seasonal patterns. ( 22487225 )
2012
11
Circadian and seasonal variations of ventricular tachyarrhythmias in patients with early repolarization syndrome and Brugada syndrome: analysis of patients with implantable cardioverter defibrillator. ( 22353358 )
2012
12
Recurrent ventricular fibrillation related to hypokalemia in early repolarization syndrome. ( 22734973 )
2012
13
[Early repolarization syndrome and recurrent syncope in two Chinese pedigrees]. ( 21092648 )
2010
14
Early repolarization syndrome and Brugada syndrome: is there any linkage? ( 18471670 )
2008

Variations for Early Repolarization Associated with Ventricular Fibrillation

ClinVar genetic disease variations for Early Repolarization Associated with Ventricular Fibrillation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNB2 NM_000724.3(CACNB2): c.476G> C (p.Ser159Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149253719 GRCh37 Chromosome 10, 18795447: 18795447
2 CACNB2 NM_000724.3(CACNB2): c.476G> C (p.Ser159Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149253719 GRCh38 Chromosome 10, 18506518: 18506518

Expression for Early Repolarization Associated with Ventricular Fibrillation

Search GEO for disease gene expression data for Early Repolarization Associated with Ventricular Fibrillation.

Pathways for Early Repolarization Associated with Ventricular Fibrillation

GO Terms for Early Repolarization Associated with Ventricular Fibrillation

Sources for Early Repolarization Associated with Ventricular Fibrillation

3 CDC
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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