Jervell & Lange-Nielsen syndrome
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Pathology
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
Diagnostic procedures
More general terms
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: https://www.ncbi.nlm.nih.gov/pubmed/9020846