EP News: Basic and Translational

Wren et  al (Circ Genom Precis Med August 27, 2019;https://doi.org/10.1161/CIRCGEN.119.002581, PMID 31454269) investigated the genotype-phenotype spectrum of calmodulinopathies. The authors identified 2 novel calmodulin (CaM) variants (CALM3-E141K in 2 cases; CALM1-E141V) and 1 previously reported CaM path ogenic variant (CALM3-D130G) in 4 independent probands with prolonged corrected QT (QTc) interval. The parents of all probands were asymptomatic with normal QTc duration. However, 2 of the families had multiple affected offspring or occurrences of intrauterine fetal demise (IUFD).

Source: Heart Rhythm - September 15, 2019 Category: Cardiology Authors: Nipavan Chiamvimonvat Tags: EP News Source Type: research