disease: Long QT syndrome 10

nameLong QT syndrome 10
descriptionLong 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.
variant-disease NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu) AND Long QT syndrome 10
NM_174934.3(SCN4B):c.568A>C (p.Ile190Leu) AND Long QT syndrome 10
NM_174934.3(SCN4B):c.544C>G (p.Leu182Val) AND Long QT syndrome 10
NM_174934.3(SCN4B):c.239T>C (p.Ile80Thr) AND Long QT syndrome 10
NM_174934.3(SCN4B):c.174C>T (p.Cys58=) AND Long QT syndrome 10
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