Beyond the exercise stress test: Does the cardiac ryanodine receptor affect intellectual function?

Sixty years ago, when describing a familial syndrome of deaf-mutism, QT prolongation and sudden death,1 Jervell and Lange-Nielsen posed the question: “Was there any connection between the patients’ cardiac disease and the deaf-mutism?” They concluded that, “The coexistence of deaf-mutism and this peculiar heart disease…hardly can be considered purely incidental.”1 It would take four decades to unravel the molecular basis for this seve re form of long QT syndrome (LQTS), now known as Jervell and Lange-Nielsen syndrome (JLNS): shared potassium channel isoforms in the inner ear and cardiac cells.

Source: Heart Rhythm - September 11, 2018 Category: Cardiology Authors: Thomas M. Roston, Shubhayan Sanatani Source Type: research