{"id":1621,"date":"2025-09-21T20:31:46","date_gmt":"2025-09-22T01:31:46","guid":{"rendered":"https:\/\/can-act.org\/maht-et-can-act\/"},"modified":"2025-10-23T09:04:40","modified_gmt":"2025-10-23T14:04:40","slug":"maht-et-can-act","status":"publish","type":"page","link":"https:\/\/can-act.org\/fr\/patients-et-familles\/maht-et-can-act\/","title":{"rendered":"MAHT et CAN-ACT"},"content":{"rendered":"\t\t
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MAHT et CAN-ACT<\/h1>\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Qu'est-ce que le MAHT ?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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La maladie h\u00e9r\u00e9ditaire de l’aorte thoracique (MAHT) d\u00e9signe un groupe d’affections g\u00e9n\u00e9tiques rares, souvent sous-diagnostiqu\u00e9es, qui provoquent une dilatation de l’aorte, le principal vaisseau sanguin quittant le c\u0153ur, entra\u00eenant un an\u00e9vrisme (ou d\u00e9chirure) et une dissection, notamment thoracique. Ces affections restent g\u00e9n\u00e9ralement silencieuses jusqu’\u00e0 la survenue d’un \u00e9v\u00e9nement potentiellement mortel, comme une dissection aortique ou une mort subite par rupture. Il est alarmant de constater que seulement un faible pourcentage de personnes pr\u00e9sentent des sympt\u00f4mes avant ces \u00e9v\u00e9nements aigus.<\/p>\n

La MAHT peut survenir de mani\u00e8re isol\u00e9e ou s’inscrire dans le cadre d’un syndrome g\u00e9n\u00e9tique plus large, comme le syndrome de Marfan, le syndrome de Loeys-Dietz ou le syndrome d’Ehlers-Danlos vasculaire. Ces formes syndromiques affectent souvent plusieurs syst\u00e8mes organiques et sont li\u00e9es \u00e0 des perturbations du tissu conjonctif ou des voies de signalisation comme le TGF-\u03b2. La MAHT non syndromique, en revanche, se manifeste souvent uniquement par une maladie de l’aorte thoracique, mais peut n\u00e9anmoins avoir une origine g\u00e9n\u00e9tique familiale.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Les progr\u00e8s de la g\u00e9n\u00e9tique ont transform\u00e9 notre compr\u00e9hension et notre diagnostic du DTHA, permettant une d\u00e9tection plus pr\u00e9coce gr\u00e2ce au d\u00e9pistage familial et \u00e0 l’identification des profils g\u00e9notypiques et ph\u00e9notypiques. Cependant, les retards diagnostiques demeurent fr\u00e9quents, surtout chez les jeunes, en raison de la raret\u00e9 de ces maladies et de la fragmentation des syst\u00e8mes de sant\u00e9.<\/p>\n

La prise en charge du DTHA n\u00e9cessite un suivi \u00e0 vie et une \u00e9quipe multidisciplinaire familiaris\u00e9e avec ses complexit\u00e9s. Des m\u00e9dicaments comme les b\u00eatabloquants ou les antagonistes des r\u00e9cepteurs de l’angiotensine peuvent ralentir la progression de la maladie, et une intervention chirurgicale pr\u00e9coce est essentielle pour pr\u00e9venir des cons\u00e9quences catastrophiques. Malgr\u00e9 ces progr\u00e8s, les donn\u00e9es sur le DTHA au Canada, en particulier chez les enfants et les jeunes adultes, demeurent limit\u00e9es, ce qui souligne l’urgence de mener des recherches sp\u00e9cialis\u00e9es et de coordonner les soins.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Quel est le Registre canadien des patients atteints d'aortopathie et de troubles du tissu conjonctif (CAN-ACT) ? <\/h2>\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Le Registre canadien des aortopathies et des troubles du tissu conjonctif (CAN-ACT)<\/em> est une initiative nationale men\u00e9e par la Fondation canadienne du syndrome de Loeys-Dietz en partenariat avec des \u00e9tablissements cliniques de tout le pays. Il est con\u00e7u pour recueillir et organiser les donn\u00e9es de sant\u00e9 des personnes diagnostiqu\u00e9es avec des maladies h\u00e9r\u00e9ditaires de l’aorte thoracique (MAHT), telles que le syndrome de Loeys-Dietz, le syndrome de Marfan et d’autres affections apparent\u00e9es.<\/p>\n

Les registres de patients comme CAN-ACT jouent un r\u00f4le essentiel dans la recherche sur les maladies rares en servant de plateforme centrale reliant les patients, les cliniciens et les chercheurs. En recueillant des informations d\u00e9taill\u00e9es et \u00e0 long terme sur l’exp\u00e9rience des patients, leurs profils g\u00e9n\u00e9tiques (g\u00e9notypes), leurs sympt\u00f4mes cliniques (ph\u00e9notypes), leurs r\u00e9sultats d’imagerie, leurs traitements et leurs r\u00e9sultats, les registres contribuent \u00e0 :<\/p>\n

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  • Mieux comprendre l\u2019\u00e9volution des MAHT ;<\/li>\n
  • Favoriser un diagnostic plus pr\u00e9coce et un traitement plus pr\u00e9cis ;<\/li>\n
  • Mettre en \u00e9vidence les disparit\u00e9s d’acc\u00e8s aux soins entre les r\u00e9gions ;<\/li>\n
  • Identifier des sympt\u00f4mes qui pourraient autrement passer inaper\u00e7us ;<\/li>\n
  • Permettre des essais cliniques plus rapides et mieux inform\u00e9s ;<\/li>\n
  • Appuyer la d\u00e9fense des droits des patients et l’\u00e9volution des politiques.<\/li>\n<\/ul>\n

    Le registre CAN-ACT vise \u00e0 constituer une base de donn\u00e9es nationale bien caract\u00e9ris\u00e9e des patients p\u00e9diatriques et adultes atteints de MAHT. Cela permettra non seulement de soutenir la recherche collaborative, mais aussi de contribuer \u00e0 l’am\u00e9lioration des soins, de la qualit\u00e9 de vie et des r\u00e9sultats \u00e0 long terme pour les personnes atteintes de ces maladies rares, mais potentiellement mortelles.<\/p>\n

    Les patients participant au registre contribuent \u00e0 un corpus croissant de connaissances susceptible d’engendrer des changements significatifs, non seulement pour eux-m\u00eames, mais aussi pour les g\u00e9n\u00e9rations futures confront\u00e9es au MAHT.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    <\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

    MAHT et CAN-ACT Qu’est-ce que le MAHT ? La maladie h\u00e9r\u00e9ditaire de l’aorte thoracique (MAHT) d\u00e9signe un groupe d’affections g\u00e9n\u00e9tiques rares, souvent sous-diagnostiqu\u00e9es, qui provoquent une dilatation de l’aorte, le principal vaisseau sanguin quittant le c\u0153ur, entra\u00eenant un an\u00e9vrisme (ou d\u00e9chirure) et une dissection, notamment thoracique. Ces affections restent g\u00e9n\u00e9ralement silencieuses jusqu’\u00e0 la survenue d’un […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":1647,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"full-width-container","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-1621","page","type-page","status-publish","hentry"],"yoast_head":"\nMAHT et CAN-ACT - CAN-ACT<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/can-act.org\/fr\/patients-et-familles\/maht-et-can-act\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MAHT et CAN-ACT - CAN-ACT\" \/>\n<meta property=\"og:description\" content=\"MAHT et CAN-ACT Qu’est-ce que le MAHT ? La maladie h\u00e9r\u00e9ditaire de l’aorte thoracique (MAHT) d\u00e9signe un groupe d’affections g\u00e9n\u00e9tiques rares, souvent sous-diagnostiqu\u00e9es, qui provoquent une dilatation de l’aorte, le principal vaisseau sanguin quittant le c\u0153ur, entra\u00eenant un an\u00e9vrisme (ou d\u00e9chirure) et une dissection, notamment thoracique. 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