Publications by authors named "F Kyndt"
Background: The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown.
Objective: This study aimed to evaluate the long-term arrhythmic risk in patients with an SCN5A loss-of-function variant to identify predictors of arrhythmic events.
Methods: Probands and family members with (likely) pathogenic SCN5A loss-of-function variants were retrospectively included.
Background: Isolated posterior leaflet mitral valve prolapse (PostMVP), a common form of MVP, often referred as fibroelastic deficiency, is considered a degenerative disease. PostMVP patients are usually asymptomatic and often undiagnosed until chordal rupture. The present study aims to characterize familial PostMVP phenotype and familial recurrence, its genetic background, and the pathophysiological processes involved.
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- - The study investigates the role of 3D chromatin organization in gene regulation and its link to human Mendelian diseases, particularly focusing on a new cardiac condition found in 7 families caused by a deletion of CTCF binding sites on chromosome 4q25.
- - This deletion results in the fusion of topologically associating domains (TADs) and alters chromatin structure, affecting the expression of the PITX2 gene, which is critical for heart function.
- - Using a mouse model that mimics the human genetic deletion, researchers observed changes in PITX2 expression in the heart, leading to the conclusion that TAD remodeling due to CTCF site deletion is responsible for a novel autosomal dominant Mend
Mutations in the DES gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects and arrhythmias. We generated human induced pluripotent stem cells (hiPSC) from a patient carrying the DES p.R406W mutation, and employed CRISPR/Cas9 to rectify the mutation in the patient's hiPSC line and introduced the mutation in an hiPSC line from a control individual unrelated to the patient.
View Article and Find Full Text PDFObjective: Variants in the gene have been associated with mitral valve dystrophy (MVD), and even polyvalvular disease has been reported. This study aimed to analyse the aortic valve and root involvement in -MVD families and its impact on outcomes.
Methods: 262 subjects (37 (18-53) years, 140 male, 79 carriers: +) from 4 -MVD families were included.