Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).

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

https://www.ncbi.nlm.nih.gov/pubmed/30010057

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;: