FLNC missense variants in familial noncompaction cardiomyopathy

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Jaap I. van Waning *
Yvonne M. Hoedemaekers
Wouter P. te Rijdt
Arne I. Jpma
Daphne Heijsman
Kadir Caliskan
Elke S. Hoendermis
Tineke P. Willems
Arthur van den Wijngaard
Albert Suurmeijer
Marjon A. van Slegtenhorst
Jan D.H. Jongbloed
Danielle F. Majoor-Krakauer
Paul A. van der Zwaag
(*) Corresponding Author:
Jaap I. van Waning | j.vanwaning@erasmusmc.nl

Abstract

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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