Caliskan, Kadir

Heijsman, Daphne

Hoedemaekers, Yvonne M.

Hoendermis, Elke S.

Jongbloed, Jan D. H.

Jpma, Arne

Majoor-Krakauer, Danielle F.

Suurmeijer, Albert

te Rijdt, Wouter P.

van den Wijngaard, Arthur

van der Zwaag, Paul A.

van Slegtenhorst, Marjon A.

van Waning, Jaap

Willems, Tineke P.

English

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.</p

University of Groningen

FLNC missense variants in familial noncompaction cardiomyopathy

ARTS repository - University of Groningen

https://pure.rug.nl/ws/files/129720272/document.pdf

FLNC missense variants in familial noncompaction cardiomyopathy

Abstract

Similar works

Full text

Available Versions

University of Groningen

ARTS repository - University of Groningen