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

Delaney, J., Mittal, S., and Sherrid, M. Current perspectives on congenital long QT syndrome. Anadiky Kardiyol Derg 2009; 9:Suppl 2; 3-11.