Key result
Likely pathogenic FLNC missense variants were identified in two families, showing familial segregation of noncompaction cardiomyopathy with concurrent coarctation of the aorta and/or mitral valve abnormalities.
Why the study?
Pathogenic variants in FLNC have been linked to HCM and DCM, but their role in familial noncompaction cardiomyopathy needed further expansion.
Case Report (n=2)
Expands the phenotypic spectrum of FLNC variants to include familial noncompaction cardiomyopathy with structural heart abnormalities.
Answers are grounded in this paper and cite their sources.
May inform genetic evaluation in noncompaction with aortic anomalies; extends known FLNC phenotypes but remains hypothesis-generating.
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.
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Waning et al. (2019) conducted a case report in Familial noncompaction cardiomyopathy (NCCM) (n=2). FLNC missense variants was evaluated on Familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities. Likely pathogenic FLNC missense variants were identified in two families, showing familial segregation of noncompaction cardiomyopathy with concurrent coarctation of the aorta and/or mitral valve abnormalities.
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