Joyce C Ohiri, Lisa Dellefave-Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y Barefield, Dominic Fullenkamp, Anthony M Gacita, Tanner O Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L George, Alexis R Demonbreun, Megan J Puckelwartz, Elizabeth M McNally
BACKGROUND: Many cardiomyopathy-associated FLNC pathogenic variants are heterozygous truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia triggers in filaminopathy are incompletely understood. METHODS AND RESULTS: We describe an individual with biallelic FLNC pathogenic variants, p.Arg650X and c.970-4A>G, with peripartum cardiomyopathy and ventricular arrhythmias. We also describe clinical findings in probands with FLNC variants including Val2715fs87X, Glu2458Serfs71X, Phe106Leu, and c...
May 18, 2024: Journal of the American Heart Association