Jervell and Lange-Nielsen syndrome. Medicalese: first described in 1957 by Anton Jervell and Fred Lange-Nielsen. Short forms: JLNS or J-LN syndrome
JLNS is the first in a weekly series of uncommon pathologies I will post. I first heard about this cardioauditory (two words not usually together) disorder from a February, 2010 Dr. Venkatesan blog post. Jervell and Lange-Nielsen syndrome (JLNS) is a genetic disorder that affects potassium channels in the heart and inner ear. This affects cellular repolarization and lengthens the cardiac action potential causing prolonged QT intervals and neural deafness. JLNS is the most severe variant of the congenital long QT disorders with over 90% of patients becoming symptomatic and 25% suffering sudden death. In a sample of 186 patients 50% had a cardiac event before age three and only 5% neared adulthood symptomless. See this Circulation article (free access) as well as this thorough review by Tranebjaerg et al.