FLNC missense variants in familial noncompaction cardiomyopathy

DOI https://doi.org/10.4081/cardiogenetics.2019.8181

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Published: Oct 8, 2019
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Vol 9 No 1 (2019)
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van Waning, J., Hoedemaekers, Y., te Rijdt, W., Jpma, A. I., Heijsman, D., Caliskan, K., Hoendermis, E., Willems, T., Wijngaard, A., Suurmeijer, A., van Slegtenhorst, M., Jongbloed, J., Majoor-Krakauer, D. F., & van der Zwaag, P. (2019). FLNC missense variants in familial noncompaction cardiomyopathy. Cardiogenetics, 9(1). https://doi.org/10.4081/cardiogenetics.2019.8181
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Jaap I. van Waning *
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Yvonne M. Hoedemaekers
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Wouter P. te Rijdt
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen; Department of Pathology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Arne I. Jpma
Department of Pathology, Erasmus Medical Center, Rotterdam, Netherlands.
Daphne Heijsman
Department of Pathology, Erasmus Medical Center, Rotterdam, Netherlands.
Kadir Caliskan
Department of Cardiology, Erasmus Medical Center, Rotterdam, Netherlands.
Elke S. Hoendermis
Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Tineke P. Willems
Department of Radiology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Arthur van den Wijngaard
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Albert Suurmeijer
Department of Pathology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Marjon A. van Slegtenhorst
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Jan D.H. Jongbloed
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Danielle F. Majoor-Krakauer
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Paul A. van der Zwaag
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
(*) 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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