ArticleEuropean heart journal2018
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Article in European heart journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- The Role of Transforming Growth Factor-β Signaling in Myxomatous Mitral Valve Degeneration.Frontiers in cardiovascular medicine · 2022Pooled it
- Genome-Wide Association Meta-Analysis Supports Genes Involved in Valve and Cardiac Development to Associate With Mitral Valve Prolapse.Circulation. Genomic and precision medicine · 2021Pooled it
- A novel FLNA missense variant in a mother-daughter pair with epilepsy: case series evidence of variable multisystem expressivity.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Novel compound heterozygous variants in theFrontiers in cardiovascular medicine · 2026Article
- Recent advances in omics-based research of mitral valve disease.Frontiers in cardiovascular medicine · 2026Review
- Mechanisms of mitral valve development and disease.Frontiers in cardiovascular medicine · 2026Review
- Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications.Frontiers in cardiovascular medicine · 2026Review
- Mitral Valve Prolapse and Sudden Cardiac Death-A Puzzle with Missing Pieces: Review of the Literature and Case Report.Medical sciences (Basel, Switzerland) · 2025Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Distinguishing benign mitral valve prolapse from arrhythmic mitral valve prolapse: not always a benign entity.Proceedings (Baylor University. Medical Center) · 2025Article
- Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With anJACC. Case reports · 2024Article
- Unraveling the Mechanisms of Valvular Heart Disease to Identify Medical Therapy Targets: A Scientific Statement From the American Heart Association.Circulation · 2024Review
- Charting the importance of filamin A posttranslational modifications.The Biochemical journal · 2024Review
- Mendelian randomization reveals interactions of the blood proteome and immunome in mitral valve prolapse.Communications medicine · 2024Article
- Insights into the Inherited Basis of Valvular Heart Disease.Current cardiology reports · 2024Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives.Heart rhythm O2 · 2023Review
- Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.Molecular genetics & genomic medicine · 2023Article
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Biology of mitral valve prolapse: from general mechanisms to advanced molecular patterns-a narrative review.Frontiers in cardiovascular medicine · 2023Review
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30 authors at 13 institutions in 3 countries.
Funding
Abstract
Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. Methods and results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive echocardiography focusing on mitral valve apparatus in comparison with control relatives. In this X-linked disease valves lesions were severe in men and moderate in women. Most men had classical features of mitral valve prolapse (MVP), but without chordal rupture. By contrast to regular MVP, mitral leaflet motion was clearly restricted in diastole and papillary muscles position was closer to mitral annulus. Valvular abnormalities were similar in the four families, in adults and young patients from early childhood suggestive of a developmental disease. In addition, mitral valve lesions worsened over time as encountered in degenerative conditions. Polyvalvular involvement was frequent in males and non-diagnostic forms frequent in females. Overall survival was moderately impaired in men (P = 0.011). Cardiac surgery rate (mainly valvular) was increased (33.3 ± 9.8 vs. 5.0 ± 4.9%, P < 0.0001; hazard ratio 10.5 [95% confidence interval: 2.9-37.9]) owing mainly to a lifetime increased risk in men (76.8 ± 14.1 vs. 9.1 ± 8.7%, P < 0.0001). Conclusion: FLNA-MVD is a developmental and degenerative disease with complex phenotypic expression which can influence patient management. FLNA-MVD has unique features with both MVP and paradoxical restricted motion in diastole, sub-valvular mitral apparatus impairment and polyvalvular lesions in males. FLNA-MVD conveys a substantial lifetime risk of valve surgery in men.
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