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Long QT Syndromes

DigenicAutosomal DominantAutosomal RecessiveDe NovoIon Channels / MembraneOMIM 192500

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Overview

From WUSTL Neuromuscular

Cardiovascular disorder with tachyarrhythmias: Prolonged ventricular repolarization Ventricular fibrillation Torsade de pointes Fibrillation with waxing and waning Due to changing axis of depolarization General: Molecular features Many LQT syndromes caused by K+ channel disorders Some patients have digenic mutations Mechanisms: Current carried by defective K+ channels is impaired by Reduced gating, or Modified channel kinetics Non-K+ channels SCN5A; SCN4B; AKAP9; SNTA1; CALM 1, 2, 3 Epidemiology Carriers: 1 in 10 000 persons Congenital long QT syndrome causes 3000 to 4000 sudden deaths in chil

Associated Genes

calcium voltage-gated channel subunit alpha1 C

Other genes: KCNJ2, SCN4B, KCNJ5, CALM1

OMIM Entries

OMIM #192500 OMIM #607542 OMIM #220400 OMIM #613688 OMIM #152427 OMIM #603830 OMIM #600163 OMIM #601144 OMIM #600919 OMIM #106410 OMIM #613695 OMIM #176261 OMIM #613693 OMIM #603796 OMIM #618447 OMIM #114205 OMIM #601005 OMIM #611875 OMIM #611818 OMIM #601253 OMIM #272120 OMIM #611819 OMIM #608256 OMIM #611820 OMIM #604001 OMIM #612955 OMIM #601017 OMIM #613485 OMIM #600734 OMIM #613677 OMIM #616247 OMIM #114180 OMIM #616249 OMIM #114182 OMIM #618782 OMIM #114183 OMIM #610198 OMIM #608977 OMIM #603283

Related Conditions

Shared genes

Short QT (SQT) Syndromes

External Resources

WUSTL Neuromuscular

Washington University Disease Center

Online Mendelian Inheritance in Man

Biomedical Literature

NCBI Expert-Authored Reviews

Portal for Rare Diseases

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.