Romano-Ward, Jervell Lange-Nielsen, Anderson-Tawil and Timothy Syndrome

Romano-Ward, Jervell-Lange-Nielson Syndrome, Anderson-Tawil and Timothy syndrome are congenital causes of a long QT.

All are caused by various mutations in the potassium subunit – 11 such mutations have been classified. The mutations associated with Romano-Ward and Jervell-Lange-Nielson are the most common. Overall incidence is around 1 in 7000 and the average age of presentation is 21 years.

The differences between the main forms are:
  1. Romano-Ward is autosomal dominant while Jervell-Lange-Nielson is autosomal recessive
  2. Jervell-Lange-Nielson is associated with bilateral deafness; Romano Ward is not.
  3. Jervell-Lange-Nielson has a higher risk of fatal arrhythmias

Small print gems: Anderson-Tawil is associated with periodic paralysis whilst Timothy syndrome is a systemic disorder associated with congenital heart defects, cognitive impairment and immunodeficiencies

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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)