{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360021390585843968.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.5334/gh.1262"}},{"identifier":{"@type":"URI","@value":"https://account.globalheartjournal.com/index.php/up-j-gh/article/download/1262/1514"}},{"identifier":{"@type":"URI","@value":"https://account.globalheartjournal.com/index.php/up-j-gh/article/download/1262/1515"}},{"identifier":{"@type":"URI","@value":"https://account.globalheartjournal.com/index.php/up-j-gh/article/download/1262/1517"}},{"identifier":{"@type":"DOI","@value":"10.60692/chqqc-8rs67"}},{"identifier":{"@type":"DOI","@value":"10.60692/qfdf9-ts717"}},{"identifier":{"@type":"PMID","@value":"37901600"}},{"identifier":{"@type":"HANDLE","@value":"20.500.12105/19259"}},{"identifier":{"@type":"HANDLE","@value":"10451/60133"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)"}],"description":[{"notation":[{"@value":"La miocardiopatía amiloide por transtiretina (ATTR-CM) es una afección progresiva y mortal que requiere un diagnóstico precoz, tratamiento y tratamiento específico. La disponibilidad de nuevas terapias modificadoras de la enfermedad ha hecho que el tratamiento exitoso sea una realidad. La miocardiopatía amiloide por transtiretina puede estar relacionada con la edad (forma natural) o causada por mutaciones en el gen TTR (formas genéticas, hereditarias). Es una enfermedad sistémica, y si bien las formas genéticas pueden exhibir una variedad de síntomas, a menudo está presente un fenotipo cardíaco predominante. Este documento tiene como objetivo proporcionar una visión general de la amiloidosis ATTR-CM centrándose en la afectación cardíaca, que es el factor más crítico para el pronóstico. Discutirá las herramientas disponibles para el diagnóstico precoz y el manejo del paciente, dado que los tratamientos específicos son más efectivos en las primeras etapas de la enfermedad, y destacará la importancia de un enfoque multidisciplinario y de los centros especializados en amiloidosis. Para lograr estos objetivos, la Federación Mundial del Corazón reunió a un panel de 18 médicos expertos especializados en amiloidosis TTR de 13 países, junto con un representante de la Alianza de Amiloidosis, un grupo de defensa del paciente. Este documento se basa en una revisión de la literatura publicada, las opiniones de expertos, los datos de los registros, las perspectivas de los pacientes, las opciones de tratamiento y los desarrollos en curso, así como los avances posibles a través de la existencia de centros de excelencia. Desde la perspectiva de los pacientes, aumentar la conciencia de la enfermedad es crucial para lograr un diagnóstico temprano y preciso. Los pacientes también buscan recibir atención en centros especializados en amiloidosis y estar completamente informados sobre su tratamiento y pronóstico."}]},{"notation":[{"@value":"La cardiomyopathie amyloïde à transthyrétine (ATTR-CM) est une maladie progressive et mortelle qui nécessite un diagnostic précoce, une prise en charge et un traitement spécifique. La disponibilité de nouveaux traitements modificateurs de la maladie a fait de la réussite du traitement une réalité. La cardiomyopathie amyloïde à la transthyrétine peut être liée à l'âge (forme sauvage) ou causée par des mutations du gène TTR (formes génétiques et héréditaires). Il s'agit d'une maladie systémique, et bien que les formes génétiques puissent présenter une variété de symptômes, un phénotype cardiaque prédominant est souvent présent. Ce document vise à fournir une vue d'ensemble de l'amylose ATTR-CM en mettant l'accent sur l'atteinte cardiaque, qui est le facteur le plus critique pour le pronostic. Il discutera des outils disponibles pour le diagnostic précoce et la prise en charge des patients, étant donné que des traitements spécifiques sont plus efficaces dans les premiers stades de la maladie, et soulignera l'importance d'une approche multidisciplinaire et de centres spécialisés dans l'amylose. Pour atteindre ces objectifs, la Fédération mondiale du cœur a réuni un panel de 18 cliniciens experts spécialisés dans l'amylose TTR de 13 pays, ainsi qu'un représentant de l'Amyloidosis Alliance, un groupe de défense des patients. Ce document est basé sur une revue de la littérature publiée, des avis d'experts, des données des registres, des perspectives des patients, des options de traitement et des développements en cours, ainsi que des progrès rendus possibles grâce à l'existence de centres d'excellence. Du point de vue des patients, une sensibilisation accrue à la maladie est cruciale pour obtenir un diagnostic précoce et précis. Les patients cherchent également à recevoir des soins dans des centres spécialisés dans l'amylose et à être pleinement informés de leur traitement et de leur pronostic."}]},{"notation":[{"@value":"Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and fatal condition that requires early diagnosis, management, and specific treatment. The availability of new disease-modifying therapies has made successful treatment a reality. Transthyretin amyloid cardiomyopathy can be either age-related (wild-type form) or caused by mutations in the TTR gene (genetic, hereditary forms). It is a systemic disease, and while the genetic forms may exhibit a variety of symptoms, a predominant cardiac phenotype is often present. This document aims to provide an overview of ATTR-CM amyloidosis focusing on cardiac involvement, which is the most critical factor for prognosis. It will discuss the available tools for early diagnosis and patient management, given that specific treatments are more effective in the early stages of the disease, and will highlight the importance of a multidisciplinary approach and of specialized amyloidosis centres. To accomplish these goals, the World Heart Federation assembled a panel of 18 expert clinicians specialized in TTR amyloidosis from 13 countries, along with a representative from the Amyloidosis Alliance, a patient advocacy group. This document is based on a review of published literature, expert opinions, registries data, patients' perspectives, treatment options, and ongoing developments, as well as the progress made possible via the existence of centres of excellence. From the patients' perspective, increasing disease awareness is crucial to achieving an early and accurate diagnosis. Patients also seek to receive care at specialized amyloidosis centres and be fully informed about their treatment and prognosis."}]},{"notation":[{"@value":"اعتلال عضلة القلب النشواني (ATTR - CM) هو حالة تقدمية ومميتة تتطلب التشخيص المبكر والإدارة والعلاج المحدد. وقد جعل توافر علاجات جديدة معدلة للأمراض العلاج الناجح حقيقة واقعة. يمكن أن يكون اعتلال عضلة القلب النشواني الترانستيريتين مرتبطًا بالعمر (شكل من النوع البري) أو ناتجًا عن طفرات في جين TTR (الأشكال الوراثية الوراثية). إنه مرض جهازي، وعلى الرغم من أن الأشكال الجينية قد تظهر مجموعة متنوعة من الأعراض، إلا أن النمط الظاهري القلبي السائد غالبًا ما يكون موجودًا. تهدف هذه الوثيقة إلى تقديم لمحة عامة عن الداء النشواني ATTR - CM مع التركيز على مشاركة القلب، وهو العامل الأكثر أهمية للتشخيص. وستناقش الأدوات المتاحة للتشخيص المبكر وإدارة المرضى، بالنظر إلى أن العلاجات المحددة تكون أكثر فعالية في المراحل المبكرة من المرض، وستسلط الضوء على أهمية النهج متعدد التخصصات ومراكز الداء النشواني المتخصصة. ولتحقيق هذه الأهداف، جمع الاتحاد العالمي للقلب لجنة من 18 طبيبًا خبيرًا متخصصًا في داء النشوانية من 13 دولة، إلى جانب ممثل من تحالف النشوانية، وهي مجموعة للدفاع عن المرضى. تستند هذه الوثيقة إلى مراجعة الأدبيات المنشورة وآراء الخبراء وبيانات السجلات ووجهات نظر المرضى وخيارات العلاج والتطورات المستمرة، بالإضافة إلى التقدم الذي تم تحقيقه من خلال وجود مراكز التميز. من وجهة نظر المرضى، فإن زيادة الوعي بالأمراض أمر بالغ الأهمية لتحقيق تشخيص مبكر ودقيق. يسعى المرضى أيضًا إلى تلقي الرعاية في مراكز الداء النشواني المتخصصة وأن يكونوا على علم تام بعلاجهم وتشخيصهم."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380021390585843972","@type":"Researcher","foaf:name":[{"@value":"Dulce Brito"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843584","@type":"Researcher","foaf:name":[{"@value":"Fabiano Castro Albrecht"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843712","@type":"Researcher","foaf:name":[{"@value":"Diego Perez de Arenaza"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843716","@type":"Researcher","foaf:name":[{"@value":"Nicole Bart"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843970","@type":"Researcher","foaf:name":[{"@value":"Nathan Better"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843713","@type":"Researcher","foaf:name":[{"@value":"Isabel Carvajal-Juarez"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843585","@type":"Researcher","foaf:name":[{"@value":"Isabel Conceição"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843845","@type":"Researcher","foaf:name":[{"@value":"Thibaud Damy"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843715","@type":"Researcher","foaf:name":[{"@value":"Sharmila Dorbala"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843844","@type":"Researcher","foaf:name":[{"@value":"Jean-Christophe Fidalgo"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843842","@type":"Researcher","foaf:name":[{"@value":"Pablo Garcia-Pavia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843968","@type":"Researcher","foaf:name":[{"@value":"Junbo Ge"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390585843714","@type":"Researcher","foaf:name":[{"@value":"Julian D. 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