The history of Jervell and Lange-Nielsen syndrome

First-time documentation of rare diseases is normally in the form of case reports. These are typically based on unexpected observations by vigilant clinicians and lead to further research on prevalence and aetiology. One of the best-known Norwegian examples is Jervell and Lange-Nielsen syndrome.

We conducted a literature review using systematic database searches and historical analysis.

The Norwegian internal medicine specialists Anton Jervell (1901-87) and Fred Lange-Nielsen (1919-89) published an article in 1957 in the American Heart Journal describing a Norwegian family in which four of the six children were deaf and experienced recurrent syncope. Three of the children died suddenly. This rare condition was the first evidence of prolonged QT intervals on an ECG as a risk factor for sudden cardiac death.