LQT8
MCID: LNG052
MIFTS: 23

Long Qt Syndrome 8 (LQT8)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 8

MalaCards integrated aliases for Long Qt Syndrome 8:

Name: Long Qt Syndrome 8 57 6
Lqt8 57

Classifications:



External Ids:

Summaries for Long Qt Syndrome 8

OMIM : 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (618447)

MalaCards based summary : Long Qt Syndrome 8, also known as lqt8, is related to timothy syndrome and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Long Qt Syndrome 8 is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C). The drugs Lidocaine and Diltiazem have been mentioned in the context of this disorder.

Related Diseases for Long Qt Syndrome 8

Graphical network of the top 20 diseases related to Long Qt Syndrome 8:



Diseases related to Long Qt Syndrome 8

Symptoms & Phenotypes for Long Qt Syndrome 8

Clinical features from OMIM:

618447

Drugs & Therapeutics for Long Qt Syndrome 8

Drugs for Long Qt Syndrome 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
2
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
3
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
4
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
5
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
6
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
7
Mexiletine Approved, Investigational Phase 1 31828-71-4 4178
8
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
9
Polyestradiol phosphate Approved Phase 1 28014-46-2
10
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
11 Antihypertensive Agents Phase 1
12 Contraceptives, Oral Phase 1
13 Hormones Phase 1
14 Contraceptives, Oral, Combined Phase 1
15 Anesthetics, Local Phase 1
16 Contraceptive Agents Phase 1
17 Sodium Channel Blockers Phase 1
18 Diuretics, Potassium Sparing Phase 1
19 Norgestimate, ethinyl estradiol drug combination Phase 1
20 Peripheral Nervous System Agents Phase 1
21 Anti-Infective Agents Phase 1
22 Anti-Bacterial Agents Phase 1
23 Central Nervous System Depressants Phase 1
24 Topoisomerase Inhibitors Phase 1
25 Estradiol 3-benzoate Phase 1
26 Anti-Arrhythmia Agents Phase 1
27 Anesthetics Phase 1
28 Vasodilator Agents Phase 1
29 calcium channel blockers Phase 1
30 Estradiol 17 beta-cypionate Phase 1
31 Calcium, Dietary Phase 1
32 Potassium Channel Blockers Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Five Period Crossover Study of the Ability of Late Sodium or Calcium Current Block (Mexiletine, Lidocaine, or Diltiazem) to Balance the Electrocardiographic Effects of hERG Potassium Current Block (Dofetilide or Moxifloxacin) Completed NCT02308748 Phase 1 Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo

Search NIH Clinical Center for Long Qt Syndrome 8

Genetic Tests for Long Qt Syndrome 8

Anatomical Context for Long Qt Syndrome 8

Publications for Long Qt Syndrome 8

Articles related to Long Qt Syndrome 8:

(show all 21)
# Title Authors PMID Year
1
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 38 8 71
24728418 2014
2
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. 8 71
30345660 2019
3
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. 8 71
25633834 2015
4
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. 8 71
23677916 2013
5
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
6
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 8
10220144 1999
7
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site. 38
31408100 2019
8
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel. 38
30172029 2019
9
Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2). 38
27034553 2016
10
Left cardiac sympathetic denervation in the Netherlands for the treatment of inherited arrhythmia syndromes. 38
24522951 2014
11
Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8). 38
24215710 2014
12
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies. 38
23837003 2013
13
Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). 38
20883512 2012
14
Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias. 38
23015789 2012
15
Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein. 38
21700933 2011
16
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. 38
21658281 2011
17
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 38
20817017 2010
18
Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome. 38
20110531 2010
19
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. 38
19996378 2010
20
Beta-adrenergic modulation of arrhythmogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study. 38
19855067 2010
21
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). 38
16876748 2006

Variations for Long Qt Syndrome 8

ClinVar genetic disease variations for Long Qt Syndrome 8:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1C NM_000719.7(CACNA1C): c.2570C> G (p.Pro857Arg) single nucleotide variant Pathogenic 12:2702418-2702418 12:2593252-2593252
2 CACNA1C NM_000719.7(CACNA1C): c.2500A> G (p.Lys834Glu) single nucleotide variant Pathogenic 12:2695040-2695040 12:2585874-2585874
3 CACNA1C NM_000719.7(CACNA1C): c.1745C> A (p.Ala582Asp) single nucleotide variant Pathogenic 12:2676810-2676810 12:2567644-2567644
4 CACNA1C NM_000719.7(CACNA1C): c.4425C> G (p.Ile1475Met) single nucleotide variant Pathogenic 12:2774773-2774773 12:2665607-2665607
5 CACNA1C NM_000719.7(CACNA1C): c.2570C> T (p.Pro857Leu) single nucleotide variant Likely pathogenic rs750835733 12:2702418-2702418 12:2593252-2593252
6 CACNA1C NM_000719.7(CACNA1C): c.2573G> A (p.Arg858His) single nucleotide variant Uncertain significance rs786205753 12:2702421-2702421 12:2593255-2593255

Expression for Long Qt Syndrome 8

Search GEO for disease gene expression data for Long Qt Syndrome 8.

Pathways for Long Qt Syndrome 8

GO Terms for Long Qt Syndrome 8

Sources for Long Qt Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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