Long Qt Syndrome 11

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

SCN4B, KCNQ1, SCN5A, KCNH2, KCNE1, KCNQ1OT1, KCNE2, CAV3, NOS1AP, KCNA4, KCNA5, KCNK3, EDA, SGK1, GJB6, AKAP9, HAND2, HGS, RWS, SNTA1, CALM1, SRSF5, ERBB2, CALM2, SCD, CACNA1C, ATN1, HARS1, GOLGA2, ATP2B4

Drugs

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A number sign (#) is used with this entry because of evidence that long QT syndrome-11 (LQT11) is caused by heterozygous mutation in the gene encoding the A-kinase anchor protein-9 (AKAP9; 604001) on chromosome 7q21. One such family has been reported.

For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).

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).

Molecular Genetics

In a 13-year-old Caucasian girl with long QT syndrome, who was negative for mutation in the known LQT genes, Chen et al. (2007) identified heterozygosity for a ser1570-to-leu (S1570L; 604001.0001) substitution in the AKAP9 gene. The patient's father and 2 sisters had also ECG-diagnosed LQT syndrome; 1 affected sister, with a QTc of 480ms, agreed to testing and was found to carry the mutation, which was not found in 1,320 reference alleles.