Matthew J O'Neill, Suet Nee Chen, Lynne Rumping, Renee Johnson, Marjon van Slegtenhorst, Andrew M Glazer, Tao Yang, Joseph F Solus, Julie Laudeman, Devyn W Mitchell, Loren R Vanags, Brett M Kroncke, Katherine Anderson, Shanshan Gao, Job A J Verdonschot, Han Brunner, Debby Hellebrekers, Matthew R G Taylor, Dan M Roden, Marja W Wessels, Ronald H Lekanne Dit Deprez, Diane Fatkin, Luisa Mestroni, M Benjamin Shoemaker
BACKGROUND: Truncating variants in filamin C (FLNC) can cause arrhythmogenic cardiomyopathy (ACM) through haploinsufficiency. Noncanonical splice-altering variants may contribute to this phenotype. OBJECTIVE: The purpose of this study was to investigate the clinical and functional consequences of a recurrent FLNC intronic variant of uncertain significance (VUS), c.970-4A>G. METHODS: Clinical data in 9 variant heterozygotes from 4 kindreds were obtained from 5 tertiary health care centers...
May 9, 2023: Heart Rhythm: the Official Journal of the Heart Rhythm Society