Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? [Original Articles]

Conclusions—
On the basis of clinical phenotype, the high allelic frequencies of LQT6 mutations in the Exome Aggregation Consortium database, and absence of previous documentation of genotype–phenotype segregation, our findings suggest that many KCNE2 variants, and perhaps all, have been erroneously designated as LQTS-causative mutations. Instead, KCNE2 variants may confer proarrhythmic susceptibility when provoked by additional environmental/acquired or genetic factors, or both.

Source: Circulation: Arrhythmia and Electrophysiology - August 9, 2017 Category: Cardiology Authors: Roberts, J. D., Krahn, A. D., Ackerman, M. J., Rohatgi, R. K., Moss, A. J., Nazer, B., Tadros, R., Gerull, B., Sanatani, S., Wijeyeratne, Y. D., Baruteau, A.-E., Muir, A. R., Pang, B., Cadrin-Tourigny, J., Talajic, M., Rivard, L., Tester, D. J., Liu, T., Tags: Arrhythmias, Sudden Cardiac Death, Genetics Original Articles Source Type: research