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


Reference
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Sarah Hudson

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas.

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