FLNC missense variants in familial noncompaction cardiomyopathy
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Cardiogenetics, Vol 9, Iss 1 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2035-8253 2035-8148 |
| DOI: | 10.4081/cardiogenetics.2019.8181 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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