" /> Long qt syndrome 2 - CISMeF





Preferred Label : Long qt syndrome 2;

Symbol : LQT2;

CISMeF acronym : LQT2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Long qt syndrome 1/2, digenic; Long qt syndrome 2/3, digenic; Long qt syndrome 2/5, digenic; Long qt syndrome 2/9, digenic; LQT1/2, DIGENIC; LQT2/3, DIGENIC; LQT2/5, DIGENIC; LQT2/9, DIGENIC;

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 syncopes, seizure, or sudden death (Jongbloed et al., 1999).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, subfamily H, member 2 gene or human ether-a-go-go related gene (KCNH2, 152427.0001);

Prefixed ID : #613688;

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03/05/2025


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