Long Qt Syndrome 5 (LQT5)

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GARD: ¹⁹ Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.

MalaCards based summary: Long Qt Syndrome 5, also known as lqt5, is related to familial long qt syndrome and ventricular fibrillation, paroxysmal familial, 1, and has symptoms including syncope An important gene associated with Long Qt Syndrome 5 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart and heart-ventricle, and related phenotypes are sinus bradycardia and ventricular fibrillation

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). (613695) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 5