Phenotypic variability of filamin C–related cardiomyopathy:Insights from a novel Dutch founder variant
Background: Dilated cardiomyopathy (DCM) can be caused by truncating variants in the filamin C gene (FLNC). A new pathogenic FLNC variant, c.6864_6867dup, p.(Val2290Argfs∗23), was recently identified in Dutch patients with DCM. Objectives: The report aimed to evaluate the phenotype of FLNC variant carriers and to determine whether this variant is a founder variant. Methods: Clinical and genetic data were retrospectively collected from variant carriers. Cardiovascular magnetic resonance studies were reassessed. Haplotypes were reconstructed to determine a founder effect. The geographical distri... Mehr ...
| Verfasser: |
Schoonvelde, Stephan A.C.
Ruijmbeek, Claudine W.B.
Hirsch, Alexander
van Slegtenhorst, Marjon A.
Wessels, Marja W.
von der Thüsen, Jan H.
Baas, Annette F.
Stroeks, Sophie L.V.M.
Verdonschot, Job A.J.
van der Zwaag, Paul A.
Verhagen, Judith M.A.
Michels, Michelle |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2023 |
| Reihe/Periodikum: |
Schoonvelde , S A C , Ruijmbeek , C W B , Hirsch , A , van Slegtenhorst , M A , Wessels , M W , von der Thüsen , J H , Baas , A F , Stroeks , S L V M , Verdonschot , J A J , van der Zwaag , P A , Verhagen , J M A & Michels , M 2023 , ' Phenotypic variability of filamin C–related cardiomyopathy : Insights from a novel Dutch founder variant ' , Heart Rhythm , vol. 20 , no. 11 , pp. 1512-1521 . https://doi.org/10.1016/j.hrthm.2023.08.003 |
| Schlagwörter: |
Arrhythmogenic cardiomyopathy
/ Dilated cardiomyopathy
/ filamin C
/ Founder variant
/ Genotype-phenotype correlation
/ Sudden cardiac death |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-27446150 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://hdl.handle.net/11370/5c6bf4d2-ae3d-4cc9-9079-c9031d3ae5e7 |
