Natural history, hospitalizations and mortality causes in ATTRv V30M amyloidosis in an endemic European cohort

Natural history, hospitalizations and mortality causes in ATTRv V30M amyloidosis in an endemic European cohort | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Natural history, hospitalizations and mortality causes in ATTRv V30M amyloidosis in an endemic European cohort Paula Hernández-Sanjuán, Juan González-Moreno, Inés Losada, Marc Ventayol-Guirado, and 3 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-9280420/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 6 You are reading this latest preprint version Abstract Variant transthyretin amyloidosis (A-ATTRv) caused by the p.Val50Met mutation is a multisystemic disease with marked geographic variability. Mallorca represents one of the main endemic foci in Europe. Although disease-modifying therapies have improved prognosis, real-world data on hospitalization patterns and causes of death remain limited. We conducted a retrospective observational study including deceased patients with A-ATTRv V30M from Mallorca up to November 2024. Demographic characteristics, comorbidity burden, neurological stage, hospital admissions and causes of death were analyzed using clinical records. Fifty-five patients (60% male) were included, with a median age at diagnosis of 68.5 years (IQR 59–75). Most patients (78.2%) presented a mixed neurological and cardiac phenotype. During follow-up, 41.8% experienced five or more emergency department visits or hospital admissions. Infectious complications, particularly urinary tract infections, were the most frequent cause of hospitalization, followed by cardiovascular events, mainly heart failure. Cardiovascular causes accounted for the largest proportion of deaths (29.1%), predominantly heart failure and sudden death. Median overall from diagnosis to death was 70 months (IQR 37–108). In this endemic A-ATTRv V30M cohort, cardiovascular complications—especially heart failure—were the main causes of mortality and a major driver of hospitalization, highlighting the importance of early multidisciplinary management. Health sciences/Cardiology Health sciences/Diseases Health sciences/Medical research Health sciences/Risk factors transthyretin amyloidosis ATTRv heart failure mortality hospital admissions Full Text Additional Declarations Competing interest reported. J.G.-M, I.L.-L, and E.C.-B have received support for conference attendance and/or honoraria for advisory or speaking activities from Alnylam Pharmaceuticals, Pfizer, Astrazeneca, and Sobi. P.H.-S have received support for conference attendance and/or honoraria for advisory or speaking activities from AstraZeneca. M.V.-G, D.H.-S and Ll. S.-R do not declare any conflicts of interest. Cite Share Download PDF Status: Under Review Version 1 posted Reviewers agreed at journal 14 May, 2026 Reviewers invited by journal 09 Apr, 2026 Editor assigned by journal 09 Apr, 2026 Editor invited by journal 07 Apr, 2026 Submission checks completed at journal 05 Apr, 2026 First submitted to journal 05 Apr, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-9280420","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":623705738,"identity":"f271d350-c1c3-4c87-b284-069ef1ef1f53","order_by":0,"name":"Paula Hernández-Sanjuán","email":"data:image/png;base64,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","orcid":"","institution":"Hospital Universitario Infanta Sofía","correspondingAuthor":true,"prefix":"","firstName":"Paula","middleName":"","lastName":"Hernández-Sanjuán","suffix":""},{"id":623705739,"identity":"e4a31329-d78e-489d-badf-497bf487cdc0","order_by":1,"name":"Juan González-Moreno","email":"","orcid":"","institution":"Hospital Son Llatzer","correspondingAuthor":false,"prefix":"","firstName":"Juan","middleName":"","lastName":"González-Moreno","suffix":""},{"id":623705740,"identity":"6717532e-1bd3-4c83-86ab-f1a2b65651c3","order_by":2,"name":"Inés Losada","email":"","orcid":"","institution":"Hospital Son Llatzer","correspondingAuthor":false,"prefix":"","firstName":"Inés","middleName":"","lastName":"Losada","suffix":""},{"id":623705743,"identity":"85e16e93-9273-4340-a584-70a9514a2091","order_by":3,"name":"Marc Ventayol-Guirado","email":"","orcid":"","institution":"Health Research Institute of the Balearic Islands","correspondingAuthor":false,"prefix":"","firstName":"Marc","middleName":"","lastName":"Ventayol-Guirado","suffix":""},{"id":623705747,"identity":"2cf98a78-2403-4db4-9066-f1d3c2228bda","order_by":4,"name":"Damián Heine-Suñer","email":"","orcid":"","institution":"Hospital Universitario Son Espases","correspondingAuthor":false,"prefix":"","firstName":"Damián","middleName":"","lastName":"Heine-Suñer","suffix":""},{"id":623705750,"identity":"74b5a6a1-75ee-4690-a5ee-b801209513d1","order_by":5,"name":"Llanos Soler-Rangel","email":"","orcid":"","institution":"Hospital Universitario Infanta Sofía","correspondingAuthor":false,"prefix":"","firstName":"Llanos","middleName":"","lastName":"Soler-Rangel","suffix":""},{"id":623705754,"identity":"4b1b57ed-9f67-4b66-b267-2777b68a8c90","order_by":6,"name":"Eugenia Cisneros-Barroso","email":"","orcid":"","institution":"Health Research Institute of the Balearic Islands","correspondingAuthor":false,"prefix":"","firstName":"Eugenia","middleName":"","lastName":"Cisneros-Barroso","suffix":""}],"badges":[],"createdAt":"2026-03-31 13:23:20","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-9280420/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-9280420/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":107482908,"identity":"95fac6b8-4d40-4f4c-b6ce-942dfcb029d2","added_by":"auto","created_at":"2026-04-22 02:25:30","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":574065,"visible":true,"origin":"","legend":"","description":"","filename":"RevisionEditores05.04.26.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9280420/v1_covered_ae20e559-8446-4d8b-80d2-e2cfe1ba9e6e.pdf"}],"financialInterests":"Competing interest reported. 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Mallorca represents one of the main endemic foci in Europe. Although disease-modifying therapies have improved prognosis, real-world data on hospitalization patterns and causes of death remain limited.\u003c/p\u003e \u003cp\u003eWe conducted a retrospective observational study including deceased patients with A-ATTRv V30M from Mallorca up to November 2024. Demographic characteristics, comorbidity burden, neurological stage, hospital admissions and causes of death were analyzed using clinical records.\u003c/p\u003e \u003cp\u003eFifty-five patients (60% male) were included, with a median age at diagnosis of 68.5 years (IQR 59\u0026ndash;75). Most patients (78.2%) presented a mixed neurological and cardiac phenotype. During follow-up, 41.8% experienced five or more emergency department visits or hospital admissions. Infectious complications, particularly urinary tract infections, were the most frequent cause of hospitalization, followed by cardiovascular events, mainly heart failure. 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