Caroline Pham, Tamara T Koopmann, Jeffrey M Vinocur, Nico A Blom, Vivian Nogueira Silbiger, Kirti Mittal, Marianne Bootsma, Kaylin C A Palm, Sally-Ann B Clur, Daniela Q C M Barge-Schaapveld, Robert M Hamilton, Elisabeth M Lodder
Genetic missense variants in TNNI3K, encoding troponin-I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed in families with supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K-c.1615A > G (p.Thr539Ala) variant presented with congenital junctional ectopic tachycardia (CJET), an arrhythmia that arises from the atrioventricular (AV) node and His bundle. However, this was a relatively small four-generational family with limited genetic testing (N = 3)...
February 29, 2024: Clinical Genetics