ArticleScience translational medicine2019
Primary cilia defects causing mitral valve prolapse.
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Article in Science translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
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69citing papers in PubMed, 3 pooled it
11.5field-weighted citation impact, top 1% of its field
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Who cites it
69 citing papers in PubMed, 3 syntheses or guidelines pooled it, 110 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
- 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
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.American journal of human genetics · 2021Pooled it
- Regional strain patterns in patients with mitral valve prolapse.Clinical research in cardiology : official journal of the German Cardiac Society · 2026Article
- Arrhythmic Mitral Valve Prolapse as a Regional Stretch-Induced Cardiomyopathy with Fibro-Inflammatory Signature: A Conceptual Review.Journal of cardiovascular development and disease · 2026Review
- Primary and motile cilia in the efferent ductules: a role for IFT88 in maintaining male fertility.Cellular and molecular life sciences : CMLS · 2026Article
- Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- Mechanisms of mitral valve development and disease.Frontiers in cardiovascular medicine · 2026Review
- Floppy Mitral Valve/Mitral Valve Prolapse: Diagnosis and Clinical Classification in This Continuing Odyssey.European cardiology · 2026Review
- Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications.Frontiers in cardiovascular medicine · 2026Review
- Recent advances in omics-based research of mitral valve disease.Frontiers in cardiovascular medicine · 2026Review
- Remodelling of supernumerary leaflet primordia leads to bicuspid aortic valve caused by loss of primary cilia.Cardiovascular research · 2025Article
- Endocardial primary cilia and blood flow regulate EndoMT during endocardial cushion development.Nature cardiovascular research · 2025Article
- AClinical case reports · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Article
- The molecular mechanisms of cardiac development and related diseases.Signal transduction and targeted therapy · 2024Review
- Unraveling the Mechanisms of Valvular Heart Disease to Identify Medical Therapy Targets: A Scientific Statement From the American Heart Association.Circulation · 2024Review
- Mendelian randomization reveals interactions of the blood proteome and immunome in mitral valve prolapse.Communications medicine · 2024Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
44 authors at 11 institutions in 5 countries.
Katelynn A ToomerCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0002-7055-1962
Mengyao YuINSERM, UMR-970, Paris Cardiovascular Research Center, 75015 Paris, France.ORCID 0000-0002-5346-535X
Diana FulmerCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0001-7675-9951
Lilong GuoCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Kelsey S MooreCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0002-3214-7010
Reece MooreCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Ka'la D DraytonCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Janiece GloverCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Neal PetersonCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Sandra Ramos-OrtizCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0001-5093-6489
Alex DrohanCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Breiona J CatchingCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0001-7399-8148
Rebecca StairleyCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0002-1760-2767
Andy WesselsCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0002-3805-9361
Joshua H LipschutzDepartment of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Francesca N DellingDepartment of Medicine, Division of Cardiology, University of California, San Francisco, San Francisco, CA 94143, USA.
Xavier JeunemaitreINSERM, UMR-970, Paris Cardiovascular Research Center, 75015 Paris, France.
Christian DinaINSERM, CNRS, Univ Nantes, L'Institut du Thorax, Nantes 44093, France.ORCID 0000-0002-7722-7348
Ryan L CollinsCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.ORCID 0000-0003-1268-9995
Harrison BrandCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.
Michael E TalkowskiCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.ORCID 0000-0003-2889-0992
Federica Del MonteGazes Cardiac Research Institute, Division of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Rupak MukherjeeGazes Cardiac Research Institute, Division of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Alexander AwgulewitschCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.ORCID 0000-0002-1389-5953
Simon BodyDepartment of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Gary HardimanCenter for Genomic Medicine, Medical University of South Carolina, 135 Cannon Street, Suite 303 MSC 835, Charleston, SC 29425, USA.ORCID 0000-0003-4558-0400
E Starr HazardCenter for Genomic Medicine, Medical University of South Carolina, 135 Cannon Street, Suite 303 MSC 835, Charleston, SC 29425, USA.ORCID 0000-0002-4645-7642
Willian A da SilveiraCenter for Genomic Medicine, Medical University of South Carolina, 135 Cannon Street, Suite 303 MSC 835, Charleston, SC 29425, USA.
Baolin WangDepartment of Genetic Medicine, Weill Medical College of Cornell University, New York, NY 10065, USA.
Maire LeyneCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.
Ronen DurstCardiology Division, Hadassah Hebrew University Medical Center, POB 12000, Jerusalem, Israel.ORCID 0000-0003-3559-1050
Roger R MarkwaldCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.
Solena Le ScouarnecINSERM, CNRS, Univ Nantes, L'Institut du Thorax, Nantes 44093, France.ORCID 0000-0003-3444-2125
Albert HagegeINSERM, UMR-970, Paris Cardiovascular Research Center, 75015 Paris, France.
Thierry Le TourneauINSERM, CNRS, Univ Nantes, L'Institut du Thorax, Nantes 44093, France.ORCID 0000-0002-0110-9054
Peter KohlUniversity Heart Center Freiburg, Bad Krozingen and Faculty of Medicine of the Albert-Ludwigs University Freiburg, Institute for Experimental Cardiovascular Medicine, Elsässerstr 2Q, 79110 Freiburg, Germany.
Eva A Rog-ZielinskaUniversity Heart Center Freiburg, Bad Krozingen and Faculty of Medicine of the Albert-Ludwigs University Freiburg, Institute for Experimental Cardiovascular Medicine, Elsässerstr 2Q, 79110 Freiburg, Germany.
Patrick T EllinorCardiovascular Research Center, Cardiology Division, Massachusetts General Hospital Research Institute, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.ORCID 0000-0002-2067-0533
Robert A LevineCardiac Ultrasound Laboratory, Cardiology Division, Massachusetts General Hospital Research Institute, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
David J MilanCardiovascular Research Center, Cardiology Division, Massachusetts General Hospital Research Institute, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
Jean-Jacques SchottINSERM, CNRS, Univ Nantes, L'Institut du Thorax, Nantes 44093, France.ORCID 0000-0002-9578-9475
Nabila Bouatia-NajiINSERM, UMR-970, Paris Cardiovascular Research Center, 75015 Paris, France.ORCID 0000-0001-5424-2134
Susan A SlaugenhauptCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.ORCID 0000-0001-7958-6494
Russell A NorrisCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA. norrisra@musc.edu.ORCID 0000-0001-8462-5726
Medical University of South Carolina · USMassachusetts General Hospital · USCentre National de la Recherche Scientifique · FRDélégation Paris 5 · FRUniversity of Freiburg · DEBrigham and Women's Hospital · USCornell University · USFondation Leducq · FRHadassah Medical Center · ILQueen's University Belfast · GBUniversity of California, San Francisco · US
Funding
UAB Recessive PKD Research and Translational Core CenterP30DK074038 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI YODER, BRADLEY K. · 2005 to 2019
$16.6MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MTargeted Nano-therapeutics for Neural RegenerationP20GM103444 · NIGMS · CLEMSON UNIVERSITY · PI SIMIONESCU, AGNETA · 2012 to 2018
$14.9MTRAINING TO IMPROVE CARDIOVASCULAR THERAPIEST32HL007260 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI MENICK, DONALD R. · 1985 to 2021
$11.1MThe Genetic Basis of Opioid Dependence Vulnerablility in a Rodent ModelU01DA045300 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Christine Cheng, Dongjun Chung · 2018 to 2026
$6.1MTransnational Research Imaging Core (TRI)P30GM131959 · NIGMS · CLEMSON UNIVERSITY · PI VYAVAHARE, NAREN R · 2019 to 2023
$5.9MImproving Mitral Compensation In Ischemic RegurgitationR01HL141917 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI AIKAWA, ELENA, BISCHOFF, JOYCE E. · 2018 to 2021
$5.6MSC COBRE for Developmentally Based Cardiovascular DiseasesP30GM103342 · NIGMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI MARKWALD, ROGER R · 2012 to 2016
$5.5MMUCOPOLYSACCHRIDE METABOLISM IN CARDIAC ANOMALIESR01HL033756 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI MARKWALD, ROGER R · 1985 to 2015
$4.8MCilia and Valvular Heart DiseaseR01HL131546 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2016 to 2025
$4.4MMechanisms of DMP Development and Atrioventricular SeptationR01HL122906 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI WESSELS, ARNO · 2015 to 2025
$4.3MEffect of Mitral Regurgitation on Ischemic LV RemodelingR01HL072265 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI LEVINE, ROBERT A · 2003 to 2013
$3.5MBLRD VA I01 BX000820NCRR NIH HHS C06 RR018823NHGRI NIH HHS T32 HG002295NHLBI NIH HHS F31 HL142159NHLBI NIH HHS K23 HL116652NHLBI NIH HHS K24 HL067434NHLBI NIH HHS R01 HL033756NHLBI NIH HHS R01 HL038176NHLBI NIH HHS R01 HL072265NHLBI NIH HHS R01 HL109506NHLBI NIH HHS R01 HL122906NHLBI NIH HHS R01 HL127692NHLBI NIH HHS R01 HL128099NHLBI NIH HHS R01 HL131546NHLBI NIH HHS R01 HL141917NHLBI NIH HHS R56 HL122906NHLBI NIH HHS T32 HL007260NIDA NIH HHS U01 DA045300NIDDK NIH HHS P30 DK074038NIGMS NIH HHS P20 GM103444NIGMS NIH HHS P30 GM103342NIGMS NIH HHS P30 GM131959NIGMS NIH HHS R01 GM114429NIMH NIH HHS R00 MH095867
Abstract
Mitral valve prolapse (MVP) affects 1 in 40 people and is the most common indication for mitral valve surgery. MVP can cause arrhythmias, heart failure, and sudden cardiac death, and to date, the causes of this disease are poorly understood. We now demonstrate that defects in primary cilia genes and their regulated pathways can cause MVP in familial and sporadic nonsyndromic MVP cases. Our expression studies and genetic ablation experiments confirmed a role for primary cilia in regulating ECM deposition during cardiac development. Loss of primary cilia during development resulted in progressive myxomatous degeneration and profound mitral valve pathology in the adult setting. Analysis of a large family with inherited, autosomal dominant nonsyndromic MVP identified a deleterious missense mutation in a cilia gene,
Indexed as
Adaptor Proteins, Signal TransducingAnimalsBase SequenceCiliaExtracellular MatrixFemaleGenome-Wide Association StudyHeart ValvesHumansMaleMice, KnockoutMitral Valve ProlapseMorphogenesisPedigreeTime FactorsTumor Suppressor ProteinsAdaptor Proteins, Signal TransducingDZIP1 protein, humanDzip1 protein, mouseTg737Rpw protein, mouseTumor Suppressor Proteins
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