Jervell & Lange-Nielsen syndrome

Pathology: 1) long QT syndrome 2) sensorineural hearing loss (deafness) Genetics: - autosomal recessive - associated with homozygous LQT1 & LQT5 - associated with defects in KCNQ1 - associated with defects in KCNE1 (type 2) Clinical manifestations: - congenital deafness - syncopal attacks due to ventricular arrhythmias - high risk of sudden death Special laboratory: - prolongation of the QT interval

General

cardiac conduction disorder genetic disease of the heart genetic syndrome (multisystem disorder)

References

- Neyroud N et al A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet 15:186-9, 1997 PMID: 9020846