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Cardiogenetics
Volume 9
Issue 1
10.4081/cardiogenetics.2019.8181
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

FLNC Missense Variants in Familial Noncompaction Cardiomyopathy

by
Jaap I. van Waning
1,*,
Yvonne M. Hoedemaekers
2,
Wouter P. te Rijdt
2,3,
Arne I. Jpma
4,
Daphne Heijsman
4,
Kadir Caliskan
5,
Elke S. Hoendermis
6,
Tineke P. Willems
7,
Arthur van den Wijngaard
8,
Albert Suurmeijer
3,
Marjon A. van Slegtenhorst
1,
Jan D.H. Jongbloed
2,
Danielle F. Majoor-Krakauer
1 and
Paul A. van der Zwaag
2
1
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
2
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
3
Department of Pathology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
4
Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands
5
Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands
6
Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
7
Department of Radiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
8
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
*
Author to whom correspondence should be addressed.
Cardiogenetics 2019, 9(1), 8181; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8181
Submission received: 20 March 2019 / Revised: 29 July 2019 / Accepted: 17 September 2019 / Published: 8 October 2019

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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MDPI and ACS Style

van Waning, J.I.; Hoedemaekers, Y.M.; te Rijdt, W.P.; Jpma, A.I.; Heijsman, D.; Caliskan, K.; Hoendermis, E.S.; Willems, T.P.; van den Wijngaard, A.; Suurmeijer, A.; et al. FLNC Missense Variants in Familial Noncompaction Cardiomyopathy. Cardiogenetics 2019, 9, 8181. https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8181

AMA Style

van Waning JI, Hoedemaekers YM, te Rijdt WP, Jpma AI, Heijsman D, Caliskan K, Hoendermis ES, Willems TP, van den Wijngaard A, Suurmeijer A, et al. FLNC Missense Variants in Familial Noncompaction Cardiomyopathy. Cardiogenetics. 2019; 9(1):8181. https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8181

Chicago/Turabian Style

van Waning, Jaap I., 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, and et al. 2019. "FLNC Missense Variants in Familial Noncompaction Cardiomyopathy" Cardiogenetics 9, no. 1: 8181. https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8181

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