{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T18:15:16Z","timestamp":1779387316706,"version":"3.53.1"},"posted":{"date-parts":[[2026,5,19]]},"group-title":"Cardiovascular Medicine","reference-count":48,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,5,19]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Concomitant arrhythmogenic right ventricular cardiomyopathy (ARVC) and mitral valve prolapse (MVP) has only been described in case reports. Little is known about genetic and phenotypic characteristics of these patients.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To describe the prevalence, genetics, and imaging characteristics of MVP in ARVC patients.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We identified 111 definite ARVC cases through medical record review, arrhythmia\/cardiomyopathy targeted gene panels, and contrast cardiac magnetic resonance data. MVP was diagnosed on echocardiography as mitral leaflet displacement &gt;2 mm above the annular plane in systole, \u201cborderline MVP\u201d defined as \u22642 mm.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>\n                    We found MVP\/borderline MVP in 14% of ARVC patients. Cardiac arrest occurred in 20% of those with MVP\/borderline MVP compared to 16% without valve abnormalities. Among 69 ARVC patients with identified genetic variants,\n                    <jats:italic>PKP2<\/jats:italic>\n                    mutations were highly prevalent (64%), particularly in those with MVP (83%). Most MVPs had posterior prolapse (73%) and trace\/mild mitral regurgitation (87%). None had mitral annular disjunction. ARVCs with MVP had higher LV mass (93 vs. 75 g\/m\n                    <jats:sup>2<\/jats:sup>\n                    , p = 0.02) and a higher prevalence of LV wall motion abnormalities (27% vs. 5%, p = 0.02) compared to ARVCs without valve abnormalities.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                    MVP is prevalent in ARVC and characterized by\n                    <jats:italic>PKP2<\/jats:italic>\n                    variants in most cases. Typical features of arrhythmic MVP like bileaflet involvement and annular disjunction are rare in ARVC with MVP; features of arrhythmogenic left-sided cardiomyopathy \u2013 increased LV mass index and wall motion abnormalities \u2013 are more common. Further studies are needed to understand the role of MVP in arrhythmic risk stratification of ARVC.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Key Points<\/jats:title>\n                  <jats:list list-type=\"order\">\n                    <jats:list-item>\n                      <jats:p>In a cohort of 111 ARVC patients, 14% had MVP.<\/jats:p>\n                    <\/jats:list-item>\n                    <jats:list-item>\n                      <jats:p>\n                        Among 69 concomitant MVP and ARVC patients with identified genetic variants,\n                        <jats:italic>PKP2<\/jats:italic>\n                        mutations were highly prevalent (83%).\n                      <\/jats:p>\n                    <\/jats:list-item>\n                    <jats:list-item>\n                      <jats:p>Typical features of arrhythmic MVP like bileaflet involvement and annular disjunction are rare in ARVC with MVP, while features of arrhythmogenic left-sided are more common.<\/jats:p>\n                    <\/jats:list-item>\n                    <jats:list-item>\n                      <jats:p>\n                        Further studies are needed to understand the role of\n                        <jats:italic>PKP2<\/jats:italic>\n                        genetic variation and MVP interaction in arrhythmic risk stratification of and left ventricular involvement in ARVC.\n                      <\/jats:p>\n                    <\/jats:list-item>\n                  <\/jats:list>\n                <\/jats:sec>","DOI":"10.64898\/2026.05.14.26353246","type":"posted-content","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T18:00:20Z","timestamp":1779213620000},"source":"Crossref","is-referenced-by-count":0,"title":["Prevalence, Genetics, and Imaging Characteristics of Patients with Mitral Valve Prolapse and Arrhythmogenic Right Ventricular Cardiomyopathy"],"prefix":"10.64898","author":[{"given":"Amy","family":"Rich","sequence":"first","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Tastet","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Cristin","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Jhawar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet J.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melvin","family":"Scheinman","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca N.","family":"Delling","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Division, University of California, San Francisco (UCSF), California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"54368","reference":[{"key":"2026052110501140000_2026.05.14.26353246v1.1","doi-asserted-by":"publisher","DOI":"10.1038\/s41569-021-00570-z"},{"issue":"24","key":"2026052110501140000_2026.05.14.26353246v1.2","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1016\/j.jacc.2022.09.044","article-title":"Research Opportunities in the Treatment of Mitral Valve Prolapse: JACC Expert Panel","volume":"80","year":"2022","journal-title":"J Am Coll Cardiol"},{"key":"2026052110501140000_2026.05.14.26353246v1.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2015.161"},{"key":"2026052110501140000_2026.05.14.26353246v1.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)02161-7"},{"key":"2026052110501140000_2026.05.14.26353246v1.5","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000932"},{"key":"2026052110501140000_2026.05.14.26353246v1.6","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehab395"},{"key":"2026052110501140000_2026.05.14.26353246v1.7","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2017-312932"},{"key":"2026052110501140000_2026.05.14.26353246v1.8","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.118.034075"},{"issue":"12","key":"2026052110501140000_2026.05.14.26353246v1.9","first-page":"1981","article-title":"EHRA expert consensus statement on arrhythmic mitral valve prolapse and mitral annular disjunction complex in collaboration with the ESC Council on valvular heart disease and the European Association of Cardiovascular Imaging endorsed by the Heart Rhythm Society, by the Asia Pacific Heart Rhythm Society, and by the Latin American Heart Rhythm Society","volume":"24","year":"2022","journal-title":"Eur Eur Pacing Arrhythm Card Electrophysiol J Work Groups Card Pacing Arrhythm Card Cell Electrophysiol Eur Soc Cardiol"},{"key":"2026052110501140000_2026.05.14.26353246v1.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2013.02.060"},{"key":"2026052110501140000_2026.05.14.26353246v1.11","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.115.016291"},{"issue":"4","key":"2026052110501140000_2026.05.14.26353246v1.12","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/j.jacep.2023.12.007","article-title":"Determinants of Ventricular Arrhythmias in Mitral Valve Prolapse","volume":"10","year":"2024","journal-title":"JACC Clin Electrophysiol"},{"key":"2026052110501140000_2026.05.14.26353246v1.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2018.09.048"},{"issue":"4","key":"2026052110501140000_2026.05.14.26353246v1.14","first-page":"e014963","article-title":"Abnormal Mechanics Relate to Myocardial Fibrosis and Ventricular Arrhythmias in Patients With Mitral Valve Prolapse","volume":"16","year":"2023","journal-title":"Circ Cardiovasc Imaging"},{"issue":"1","key":"2026052110501140000_2026.05.14.26353246v1.15","first-page":"e017051","article-title":"Inheritance of Imaging Parameters of Arrhythmic Risk in Mitral Valve Prolapse: A Pedigree Study","volume":"18","year":"2025","journal-title":"Circ Cardiovasc Imaging"},{"issue":"8","key":"2026052110501140000_2026.05.14.26353246v1.16","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1016\/j.jacep.2021.01.007","article-title":"Antemortem and Post-Mortem Characteristics of Lethal Mitral Valve Prolapse Among All Countywide Sudden Deaths","volume":"7","year":"2021","journal-title":"JACC Clin Electrophysiol"},{"key":"2026052110501140000_2026.05.14.26353246v1.17","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehac049"},{"key":"2026052110501140000_2026.05.14.26353246v1.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacep.2021.12.002"},{"key":"2026052110501140000_2026.05.14.26353246v1.19","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehq025"},{"issue":"6","key":"2026052110501140000_2026.05.14.26353246v1.20","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.hrthm.2017.02.013","article-title":"Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia patients with late presentation","volume":"14","year":"2017","journal-title":"Heart Rhythm"},{"key":"2026052110501140000_2026.05.14.26353246v1.21","doi-asserted-by":"crossref","unstructured":"Liang Y , Lyon RC , Pellman J , Bradford WH , et al. Desmosomal COP9 regulates proteome degradation in arrhythmogenic right ventricular dysplasia\/cardiomyopathy. J Clin Invest. 131(11):e137689.","DOI":"10.1172\/JCI137689"},{"issue":"15","key":"2026052110501140000_2026.05.14.26353246v1.22","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1161\/CIRCULATIONAHA.118.037230","article-title":"Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy","volume":"139","year":"2019","journal-title":"Circulation"},{"key":"2026052110501140000_2026.05.14.26353246v1.23","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hfs119"},{"key":"2026052110501140000_2026.05.14.26353246v1.24","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2008.09.019"},{"key":"2026052110501140000_2026.05.14.26353246v1.25","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5273(95)02294-7"},{"key":"2026052110501140000_2026.05.14.26353246v1.26","doi-asserted-by":"publisher","DOI":"10.1378\/chest.87.4.476"},{"key":"2026052110501140000_2026.05.14.26353246v1.27","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.65.2.384"},{"issue":"1","key":"2026052110501140000_2026.05.14.26353246v1.28","first-page":"29","article-title":"Normal values for cardiovascular magnetic resonance in adults and children","volume":"17","year":"2015","journal-title":"J Cardiovasc Magn Reson Off J Soc Cardiovasc Magn Reson"},{"key":"2026052110501140000_2026.05.14.26353246v1.29","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.113.006702"},{"key":"2026052110501140000_2026.05.14.26353246v1.30","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.104.516930"},{"key":"2026052110501140000_2026.05.14.26353246v1.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2013.09.015"},{"key":"2026052110501140000_2026.05.14.26353246v1.32","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.115.020621"},{"key":"2026052110501140000_2026.05.14.26353246v1.33","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCIMAGING.116.005030"},{"issue":"2","key":"2026052110501140000_2026.05.14.26353246v1.34","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.echo.2021.09.002","article-title":"Morphology of Mitral Annular Disjunction in Mitral Valve Prolapse","volume":"35","year":"2022","journal-title":"J Am Soc Echocardiogr Off Publ Am Soc Echocardiogr"},{"issue":"4","key":"2026052110501140000_2026.05.14.26353246v1.35","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.echo.2017.01.007","article-title":"Recommendations for Noninvasive Evaluation of Native Valvular Regurgitation: A Report from the American Society of Echocardiography Developed in Collaboration with the Society for Cardiovascular Magnetic Resonance","volume":"30","year":"2017","journal-title":"J Am Soc Echocardiogr Off Publ Am Soc Echocardiogr"},{"issue":"11","key":"2026052110501140000_2026.05.14.26353246v1.36","doi-asserted-by":"crossref","first-page":"e002355","DOI":"10.1161\/CIRCGEN.118.002355","article-title":"Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events","volume":"11","year":"2018","journal-title":"Circ Genomic Precis Med"},{"key":"2026052110501140000_2026.05.14.26353246v1.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(20)33380-5"},{"key":"2026052110501140000_2026.05.14.26353246v1.38","doi-asserted-by":"publisher","DOI":"10.1378\/chest.82.3.329"},{"key":"2026052110501140000_2026.05.14.26353246v1.39","doi-asserted-by":"crossref","unstructured":"Bui AH , Roujol S , Foppa M , Kissinger KV , et al. Diffuse myocardial fibrosis in patients with mitral valve prolapse and ventricular arrhythmia. 2017 Feb 1 [cited 2025 Jul 7]; Available from: https:\/\/heart.bmj.com\/content\/103\/3\/204","DOI":"10.1136\/heartjnl-2016-309303"},{"issue":"5","key":"2026052110501140000_2026.05.14.26353246v1.40","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.mayocp.2018.11.028","article-title":"A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome","volume":"94","year":"2019","journal-title":"Mayo Clin Proc"},{"key":"2026052110501140000_2026.05.14.26353246v1.41","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000241482.19382.c6"},{"key":"2026052110501140000_2026.05.14.26353246v1.42","first-page":"41","article-title":"Wang L, et. al. Deleterious rare desmosomal variants contribute to hypertrophic cardiomyopathy and are associated with distinctive clinical features","volume":"38","year":"2022","journal-title":"Can J Cardiol"},{"issue":"7","key":"2026052110501140000_2026.05.14.26353246v1.43","doi-asserted-by":"crossref","first-page":"e015587","DOI":"10.1161\/JAHA.119.015587","article-title":"Characteristic Histopathological Findings and Cardiac Arrest Rhythm in Isolated Mitral Valve Prolapse and Sudden Cardiac Death","volume":"9","year":"2020","journal-title":"J Am Heart Assoc"},{"key":"2026052110501140000_2026.05.14.26353246v1.44","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2014.07.015"},{"issue":"2","key":"2026052110501140000_2026.05.14.26353246v1.45","doi-asserted-by":"crossref","first-page":"101117","DOI":"10.1016\/j.jocmr.2024.101117","article-title":"Interstitial fibrosis and arrhythmic mitral valve prolapse: Unraveling sex-based differences","volume":"26","year":"2024","journal-title":"J Cardiovasc Magn Reson"},{"issue":"5","key":"2026052110501140000_2026.05.14.26353246v1.46","doi-asserted-by":"crossref","first-page":"e014628","DOI":"10.1161\/JAHA.119.014628","article-title":"Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated Cardiomyopathy","volume":"9","year":"2020","journal-title":"J Am Heart Assoc"},{"key":"2026052110501140000_2026.05.14.26353246v1.47","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01233-7"},{"issue":"3","key":"2026052110501140000_2026.05.14.26353246v1.48","doi-asserted-by":"crossref","first-page":"e003273","DOI":"10.1161\/CIRCGEN.120.003273","article-title":"International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework","volume":"14","year":"2021","journal-title":"Circ Genomic Precis Med"}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.64898\/2026.05.14.26353246","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T17:50:24Z","timestamp":1779385824000},"score":1,"resource":{"primary":{"URL":"http:\/\/medrxiv.org\/lookup\/doi\/10.64898\/2026.05.14.26353246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,19]]},"references-count":48,"URL":"https:\/\/doi.org\/10.64898\/2026.05.14.26353246","relation":{},"subject":[],"published":{"date-parts":[[2026,5,19]]},"subtype":"preprint"}}