FLNC missense variants in familial noncompaction cardiomyopathy

  • Jaap I. van Waning | j.vanwaning@erasmusmc.nl 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.

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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Published
2019-10-08
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Original Articles
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How to Cite
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