Calmodulin gene mutation producing life threatening QT prolongation

Calmodulin gene mutation producing life threatening QT prolongation

Calmodulin gene mutation: Lia Crotti, Christopher N Johnson, Elisabeth Graf, Gaetano M De Ferrari, Bettina F Cuneo, Marc Ovadia, John Papagiannis, Michael D Feldkamp, Subodh G Rathi, Jennifer D Kunic, Matteo Pedrazzini, Thomas Wieland, Peter Lichtner, Britt-Maria Beckmann, Travis Clark, Christian Shaffer, D Woodrow Benson, Stefan Kääb, Thomas Meitinger, Tim M Strom, Walter J Chazin, Peter J Schwartz and Alfred L George Jr [1], the pioneer in studies on congenital long QT syndrome, have described three denovo mutations in CALM1 and CALM2 mutations associated with QT prolongation and recurrent cardiac arrests in infants. The infants had life threatening ventricular arrhythmias, epilepsy and variable delay in neurodevelopment. There was a several fold decrease in the calcium binding efficacy of the mutant calmodulins. This will affect the calcium signaling in the membrane ion channels of the heart and lead on to deadly arrhythmias.

Reference

1. Lia Crotti, Christopher N Johnson, Elisabeth Graf, Gaetano M De Ferrari, Bettina F Cuneo, Marc Ovadia, John Papagiannis, Michael D Feldkamp, Subodh G Rathi, Jennifer D Kunic, Matteo Pedrazzini, Thomas Wieland, Peter Lichtner, Britt-Maria Beckmann, Travis Clark, Christian Shaffer, D Woodrow Benson, Stefan Kääb, Thomas Meitinger, Tim M Strom, Walter J Chazin, Peter J Schwartz, Alfred L George Jr. Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants. Circulation. 2013 Mar 5;127(9):1009-17.