LQT8
MCID: LNG052
MIFTS: 27

Long Qt Syndrome 8 (LQT8)

Categories: Blood diseases, Cardiovascular diseases, Ear 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 56 73 29 6
Lqt8 56 73

Classifications:



External Ids:

OMIM 56 618447
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133

Summaries for Long Qt Syndrome 8

UniProtKB/Swiss-Prot : 73 Long QT syndrome 8: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. LQT8 transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.

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 Diltiazem and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include heart.

OMIM : 56 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)

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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
2
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
3
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
4
Mexiletine Approved, Investigational Phase 1 31828-71-4 4178
5
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
6 Sodium Channel Blockers Phase 1
7 Anesthetics Phase 1
8 Antihypertensive Agents Phase 1
9 Anti-Infective Agents Phase 1
10 Hormones Phase 1
11 Anti-Arrhythmia Agents Phase 1
12 Vasodilator Agents Phase 1
13 Anti-Bacterial Agents Phase 1
14 Norgestimate, ethinyl estradiol drug combination Phase 1
15 Potassium Channel Blockers Phase 1
16 Anesthetics, Local Phase 1
17 Calcium, Dietary Phase 1
18 Diuretics, Potassium Sparing Phase 1
19 calcium channel blockers Phase 1
20
Calcium Nutraceutical Phase 1 7440-70-2 271

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

Genetic tests related to Long Qt Syndrome 8:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 8 29 CACNA1C

Anatomical Context for Long Qt Syndrome 8

MalaCards organs/tissues related to Long Qt Syndrome 8:

40
Heart

Publications for Long Qt Syndrome 8

Articles related to Long Qt Syndrome 8:

(show all 30)
# Title Authors PMID Year
1
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 61 56 6
24728418 2014
2
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. 6 56
30345660 2019
3
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. 6 56
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. 6 56
23677916 2013
5
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 6
25691416 2015
6
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
7
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 6
21910241 2011
8
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. 6
21307850 2011
9
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 6
18250309 2008
10
Timothy Syndrome 6
20301577 2006
11
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 6
15863612 2005
12
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 6
15454078 2004
13
Long QT Syndrome 6
20301308 2003
14
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 56
10220144 1999
15
High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8. 61
32161207 2020
16
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site. 61
31408100 2019
17
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. 61
30172029 2019
18
Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2). 61
27034553 2016
19
Left cardiac sympathetic denervation in the Netherlands for the treatment of inherited arrhythmia syndromes. 61
24522951 2014
20
Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8). 61
24215710 2014
21
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies. 61
23837003 2013
22
Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). 61
20883512 2012
23
Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias. 61
23015789 2012
24
Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein. 61
21700933 2011
25
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. 61
21658281 2011
26
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 61
20817017 2010
27
Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome. 61
20110531 2010
28
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. 61
19996378 2010
29
Beta-adrenergic modulation of arrhythmogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study. 61
19855067 2010
30
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). 61
16876748 2006

Variations for Long Qt Syndrome 8

ClinVar genetic disease variations for Long Qt Syndrome 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1C NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)SNV Pathogenic 633643 rs750835733 12:2702418-2702418 12:2593252-2593252
2 CACNA1C NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu)SNV Pathogenic 633645 rs1555836187 12:2695040-2695040 12:2585874-2585874
3 CACNA1C NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp)SNV Pathogenic 633647 rs1568469857 12:2676810-2676810 12:2567644-2567644
4 CACNA1C NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met)SNV Pathogenic 633648 rs1569139160 12:2774773-2774773 12:2665607-2665607
5 CACNA1C NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)SNV Pathogenic 190653 rs786205753 12:2702421-2702421 12:2593255-2593255
6 CACNA1C NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)SNV Conflicting interpretations of pathogenicity 222515 rs750835733 12:2702418-2702418 12:2593252-2593252

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 8:

73
# Symbol AA change Variation ID SNP ID
1 CACNA1C p.Ile1186Thr VAR_072381
2 CACNA1C p.Ala582Asp VAR_075156
3 CACNA1C p.Arg858His VAR_075158
4 CACNA1C p.Arg860Gly VAR_075159
5 CACNA1C p.Ile1186Val VAR_075160
6 CACNA1C p.Ile1523Met VAR_075162
7 CACNA1C p.Glu1544Lys VAR_075163
8 CACNA1C p.Pro857Leu VAR_082633
9 CACNA1C p.Pro857Arg VAR_082634

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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