Catalog

Long QT syndrome type 5

No MMS code

Link to WHO Definition

Long QT syndrome type 5 – http://id.who.int/icd/entity/1160601997

This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome.