long QT syndrome type 5

Pathology

• KCNE1 mutants form channels that open slowly & close rapidly, thereby diminishing K+ currents

Genetics

• associated with defects in KCNE1

Clinical manifestations

• syncope & sudden death in response to exercise or emotional stress

Diagnostic procedures

• electrocardiogram
  • prolonged QT interval
  • polymorphic ventricular arrhythmias

More general terms

• long QT syndrome

Additional terms

• Jervell & Lange-Nielsen syndrome

Database

• OMIM: https://mirror.omim.org/entry/176261