1 research outputs found
FLNC missense variants in familial noncompaction cardiomyopathy
The majority of familial noncompaction
cardiomyopathy (NCCM) is explained by
pathogenic variants in the same sarcomeric
genes that are associated with hypertrophic
(HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C
gene (FLNC) have been linked to HCM and
DCM. We expand the spectrum of FLNC
related cardiomyopathies by presenting two
families with likely pathogenic FLNC variants showing familial segregation of
NCCM and concurrent coarctation of the
aorta and/or mitral valve abnormalities