Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).
Fiche publication
Date publication
août 2018
Journal
Heart rhythm
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Dr LAURENT Guillaume
Tous les auteurs :
Podliesna S, Delanne J, Miller L, Tester DJ, Uzunyan M, Yano S, Klerk M, Cannon BC, Khongphatthanayothin A, Laurent G, Bertaux G, Falcon-Eicher S, Wu S, Yen HY, Gao H, Wilde AAM, Faivre L, Ackerman MJ, Lodder EM, Bezzina CR
Lien Pubmed
Résumé
Rare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.
Mots clés
Conduction disease, Dilated cardiomyopathy, Genetics, Kinase, Rare variant, Supraventricular tachycardia, TNNI3K
Référence
Heart Rhythm. 2018 Aug 16;: