Long Qt Syndrome 1; Lqt1

Description

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).A form of torsade de pointes in which the first beat has a short coupling interval has been described (OMIM ). Genetic Heterogeneity of Long QT SyndromeThere are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (OMIM ) is caused by mutation in the KCNH2 gene (OMIM ), LQT3 (OMIM ) is caused by mutation in the SCN5A gene (OMIM ), LQT4 (see {600919}) is caused by mutation in the ANK2 gene (OMIM ), LQT5 is caused by mutation in the KCNE1 gene (OMIM ), LQT6 (OMIM ) is caused by mutation in the KCNE2 gene (OMIM ), LQT7 (Andersen cardiodysrhythmic periodic paralysis, {170390}) is caused by mutation in the KCNJ2 gene (OMIM ), LQT8 (Timothy syndrome; {601005}) is caused by mutation in the CACNA1C gene (OMIM ), LQT9 (OMIM ) is caused by mutation in the CAV3 gene (OMIM ), LQT10 (OMIM ) is caused by mutation in the SCN4B gene (OMIM ), LQT11 (OMIM ) is caused by mutation in the AKAP9 gene (OMIM ), LQT12 (OMIM ) is caused by mutation in the SNTA1 gene (OMIM ), LQT13 (OMIM ) is caused by mutation in the KCNJ5 gene (OMIM ), LQT14 (OMIM ) is caused by mutation in the CALM1 gene (OMIM ), and LQT15 (OMIM ) is caused by mutation in the CALM2 gene (OMIM ).Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).

Clinical Features

Top most frequent phenotypes and symptoms related to Long Qt Syndrome 1; Lqt1

  • Seizures
  • Hearing impairment
  • Depressivity
  • Arrhythmia
  • Paralysis
  • Tachycardia
  • Postural instability
  • Sudden cardiac death
  • Syncope
  • Palpitations

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Long Qt Syndrome 1; Lqt1 Is also known as romano-ward syndrome, ventricular fibrillation with prolonged qt interval, rws, wrs, ward-romano syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Long Qt Syndrome 1; Lqt1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Long QT Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CALM1, CALM2, CASQ2, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1
Specificity
6 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Comprehensive Arrhythmias Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, HCN4, TRPM4, SCN3B, GPD1L, AKAP9, ANK2, KCNE1, KCNE2, KCNE3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

We have 188 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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