FLNC missense variants in familial noncompaction cardiomyopathy

Abstract

textabstractThe majority of familial noncompaction \ncardiomyopathy (NCCM) is explained by \npathogenic variants in the same sarcomeric \ngenes that are associated with hypertrophic \n(HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C \ngene (FLNC) have been linked to HCM and \nDCM. We expand the spectrum of FLNC \nrelated cardiomyopathies by presenting two \nfamilies with likely pathogenic FLNC variants showing familial segregation of \nNCCM and concurrent coarctation of the \naorta and/or mitral valve abnormalities.