ArticleAmerican journal of human genetics1999
Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 180 citations in OpenAlex.
- Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.European heart journal · 2022Pooled it
- Genomic analysis in patients with myxomatous mitral valve prolapse: current state of knowledge.BMC cardiovascular disorders · 2018Pooled it
- Familial clustering of mitral valve prolapse in the community.Circulation · 2015Trial
- Recent advances in omics-based research of mitral valve disease.Frontiers in cardiovascular medicine · 2026Review
- Mitral Annular Disjunction and Arrhythmic Risk: Case Series and State of the Art.Biomedicines · 2025Article
- Comparison of mortality trends in patients with rheumatic mitral valve disease and nonrheumatic mitral valve disease: A retrospective study in US from 1999 to 2020.International journal of cardiology. Heart & vasculature · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Spns1-dependent endocardial lysosomal function drives valve morphogenesis through Notch1-signaling.iScience · 2024Article
- Mid-term clinical outcomes of totally endoscopic repair for mitral regurgitation in Barlow's disease.Journal of cardiothoracic surgery · 2024Article
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.Journal of clinical medicine · 2023Review
- Related mechanisms and research progress in straight back syndrome.World journal of cardiology · 2023Review
- Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives.Heart rhythm O2 · 2023Review
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Genetics and pathophysiology of mitral valve prolapse.Frontiers in cardiovascular medicine · 2023Review
- Article
- Prenatal ultrasound diagnosis of primary myxomatous degeneration of cardiac valves in a fetus: Case report.The journal of obstetrics and gynaecology research · 2022Article
- Diagnosis of Mitral Valve Prolapse: Much More than Simple Prolapse. Multimodality Approach to Risk Stratification and Therapeutic Management.Journal of clinical medicine · 2022Review
- Left Ventricular Remodeling in Non-syndromic Mitral Valve Prolapse: Volume Overload or Concomitant Cardiomyopathy?Frontiers in cardiovascular medicine · 2022Review
- Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.Journal of the American Heart Association · 2021Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myxomatous mitral-valve prolapse (MMVP), also called Barlow disease, is a common cardiac abnormality and affects up to 5% of the population. It is characterized by an excess of tissue that leads to billowing of the mitral leaflets, sometimes complicated by prolapse. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Previous reports have proposed an autosomal dominant inheritance of the trait, with age- and sex-dependent expression. By systematic echocardiographic screening of the first-degree relatives of 17 patients who underwent mitral-valve repair, we have identified four pedigrees showing such an inheritance. Genomewide linkage analysis of the most informative pedigree (24 individuals, three generations) showed a significant linkage for markers mapping to chromosome 16p, with a two-point maximum LOD score for D16S3068 (Zmax=3.30 at straight theta=0). Linkage to D16S3068 was confirmed in a second family (Zmax=2.02 at straight theta=0) but was excluded for the two remaining families, thus demonstrating the genetic heterogeneity of the disease. Multipoint linkage analysis performed, with nine additional markers, on the two families with linkage gave maximum multipoint LOD scores of 5.45 and 5.68 for D16S3133, according to a conservative and a stringent model, respectively. Haplotype analysis defined a 5-cM minimal MMVP-1 locus between D16S3068 (16p11.2) and D16S420 (16p12. 1) and a 34-cM maximal interval between D16S404 and D16S3068 when recombination events were taken into account only in affected individuals. The identification of this locus represents a first step toward a new molecular classification of mitral-valve prolapse.
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