{"id":1735,"date":"2022-09-01T16:20:06","date_gmt":"2022-09-01T20:20:06","guid":{"rendered":"https:\/\/loeysdietzcanada.org\/?page_id=1735"},"modified":"2023-01-07T23:21:32","modified_gmt":"2023-01-08T04:21:32","slug":"recevoir-diagnostic-syndrome-de-loeys-dietz","status":"publish","type":"page","link":"https:\/\/loeysdietzcanada.org\/fr\/syndrome-de-loeys-dietz\/recevoir-diagnostic-syndrome-de-loeys-dietz\/","title":{"rendered":"Recevoir un diagnostic de syndrome de Loeys-Dietz"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"1735\" class=\"elementor elementor-1735 elementor-692\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section data-particle_enable=\"false\" data-particle-mobile-disabled=\"false\" class=\"elementor-section elementor-top-section elementor-element elementor-element-15ec4622 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"15ec4622\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-707e70d3\" data-id=\"707e70d3\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-2b99ab2d elementor-widget__width-initial elementor-widget elementor-widget-heading\" data-id=\"2b99ab2d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Recevoir un diagnostic<br> de syndrome de Loeys-Dietz<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section data-particle_enable=\"false\" data-particle-mobile-disabled=\"false\" class=\"elementor-section elementor-top-section elementor-element elementor-element-3a2e19ed elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3a2e19ed\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-247edb09\" data-id=\"247edb09\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-669da8a2 elementor-widget elementor-widget-text-editor\" data-id=\"669da8a2\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">Apr\u00e8s avoir re\u00e7u un <\/span><b>diagnostic de syndrome de Loeys-Dietz<\/b><span style=\"font-weight: 400;\"> (SLD), les patients et les familles peuvent ressentir une s\u00e9rie d&#8217;\u00e9motions complexes et intenses telles que le sentiment d\u2019\u00eatre d\u00e9boussol\u00e9, la peur, l&#8217;anxi\u00e9t\u00e9, la col\u00e8re, la culpabilit\u00e9 et une perte de contr\u00f4le. <\/span><\/p><p><span style=\"font-weight: 400;\"><strong>\u00c0 chaque \u00e9tape, nous sommes l\u00e0 pour vous.<\/strong> <\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b7d09e4 elementor-align-center elementor-widget elementor-widget-button\" data-id=\"b7d09e4\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"https:\/\/loeysdietzcanada.org\/fr\/soutien-aux-patients\/trouver-aide\/\" target=\"_blank\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-long-arrow-alt-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">trouver du soutien <\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e75a078 elementor-widget elementor-widget-spacer\" data-id=\"e75a078\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section data-particle_enable=\"false\" data-particle-mobile-disabled=\"false\" class=\"elementor-section elementor-top-section elementor-element elementor-element-699d2c35 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"699d2c35\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-4d4e056b\" data-id=\"4d4e056b\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7b7db3f4 elementor-widget elementor-widget-heading\" data-id=\"7b7db3f4\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Crit\u00e8res de diagnostic du syndrome de Loeys-Dietz<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ef01a13 elementor-widget elementor-widget-text-editor\" data-id=\"ef01a13\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">Pour une personne <\/span><b>sans ant\u00e9c\u00e9dents familiaux<\/b><span style=\"font-weight: 400;\"> de SLD, un diagnostic est pos\u00e9 lorsque les deux crit\u00e8res suivants sont r\u00e9unis :<\/span><\/p><ol><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Le test g\u00e9n\u00e9tique d\u00e9tecte une variante (changement) dans le g\u00e8ne SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 ou TGFBR2. La variante doit \u00eatre pathog\u00e8ne (connue pour causer la maladie) ou probablement pathog\u00e8ne (susceptible de causer la maladie) pour le SLD ;<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">L&#8217;individu pr\u00e9sente l&#8217;un des sympt\u00f4mes suivants :<\/span><\/li><\/ol><ul><li style=\"font-weight: 400;\" aria-level=\"2\"><span style=\"font-weight: 400;\">\u00c9largissement de la racine aortique ou dissection de type A<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"2\"><span style=\"font-weight: 400;\">Caract\u00e9ristiques du SLD<\/span><span style=\"font-weight: 400;\">, y compris une combinaison de manifestations vasculaires, cutan\u00e9es, squelettiques et\/ou cr\u00e2niofaciales.<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Pour une personne <\/span><b>dont les ant\u00e9c\u00e9dents familiaux de SLD sont connus et document\u00e9s<\/b><span style=\"font-weight: 400;\">, un diagnostic est \u00e9tabli sur la base d&#8217;un test g\u00e9n\u00e9tique (comme d\u00e9crit ci-dessus), m\u00eame si les caract\u00e9ristiques physiques, comme les sympt\u00f4mes vasculaires, ne sont pas encore visibles.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section data-particle_enable=\"false\" data-particle-mobile-disabled=\"false\" class=\"elementor-section elementor-top-section elementor-element elementor-element-98e0857 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"98e0857\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-d61b759\" data-id=\"d61b759\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3b32c9a elementor-widget elementor-widget-heading\" data-id=\"3b32c9a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Processus de diagnostic du syndrome de Loeys-Dietz<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-577a181 elementor-widget elementor-widget-text-editor\" data-id=\"577a181\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">En cas de suspicion du SLD, il est recommand\u00e9 d&#8217;\u00eatre \u00e9valu\u00e9 par un <\/span><b>g\u00e9n\u00e9ticien m\u00e9dical<\/b><span style=\"font-weight: 400;\"> qui conna\u00eet bien les maladies du tissu conjonctif. Vous pouvez <\/span><b>trouver un g\u00e9n\u00e9ticien m\u00e9dical<\/b><span style=\"font-weight: 400;\"> en demandant \u00e0 votre prestataire de soins primaires de vous r\u00e9f\u00e9rer vers un sp\u00e9cialiste, en contactant le service de g\u00e9n\u00e9tique m\u00e9dicale de votre h\u00f4pital ou en trouvant <\/span><a href=\"https:\/\/www.cagc-accg.ca\/?&amp;locale=fr_CA\" target=\"_blank\" rel=\"noopener\"><span style=\"font-weight: 400;\">une clinique g\u00e9n\u00e9tique pr\u00e8s de chez vous<\/span><\/a><span style=\"font-weight: 400;\">. Au cours de la premi\u00e8re visite, un questionnaire d\u00e9taill\u00e9 de la famille et des ant\u00e9c\u00e9dents m\u00e9dicaux sera effectu\u00e9 et un examen physique complet sera r\u00e9alis\u00e9 pour v\u00e9rifier la pr\u00e9sence de caract\u00e9ristiques squelettiques, cr\u00e2niofaciales et cutan\u00e9es qui sont g\u00e9n\u00e9ralement pr\u00e9sentes chez les personnes atteintes du SLD.<\/span><\/p><p><span style=\"font-weight: 400;\">En cas de suspicion persistante de SLD, c\u2019est recommand\u00e9 de r\u00e9aliser un <\/span><b>\u00e9chocardiogramme<\/b><span style=\"font-weight: 400;\"> (\u00e9chographie cardiaque) pour \u00e9valuer la pr\u00e9sence d&#8217;une dilatation aortique et\/ou d&#8217;autres anomalies cardiaques structurelles compatibles avec un diagnostic de SLD. Une consultation avec un cardiologue sera certes n\u00e9cessaire pour aider \u00e0 interpr\u00e9ter les r\u00e9sultats cardiaques.<\/span><\/p><p><span style=\"font-weight: 400;\">Le m\u00e9decin peut \u00e9galement proposer d\u2019autres examens d\u2019imagerie approfondie des art\u00e8res de l&#8217;ensemble du corps. Il s&#8217;agit d&#8217;une <\/span><b>angiographie par TDM<\/b><span style=\"font-weight: 400;\"> (angiographie par tomodensitom\u00e9trie &#8211; en anglais CTA) ou une <\/span><b>ARM<\/b><span style=\"font-weight: 400;\"> (angiographie par r\u00e9sonance magn\u00e9tique &#8211; en anglais MRA) de l&#8217;ensemble de l&#8217;arbre art\u00e9riel de la t\u00eate au bassin (t\u00eate, cou, poitrine, bassin et abdomen). Ces examens d&#8217;imagerie permettent de d\u00e9tecter les an\u00e9vrismes dans d&#8217;autres art\u00e8res.<\/span><\/p><p><span style=\"font-weight: 400;\">Il est recommand\u00e9 d\u2019effectuer une <\/span><b>reconstruction tridimensionnelle (3D)<\/b><span style=\"font-weight: 400;\"> d\u2019une angiographie par TDM ou d\u2019une ARM afin de v\u00e9rifier la pr\u00e9sence de tortuosit\u00e9 art\u00e9rielle, particuli\u00e8rement dans le cou et la t\u00eate, caract\u00e9ristique courante chez les personnes souffrant du LDS. Cette caract\u00e9ristique en elle-m\u00eame n\u2019est habituellement pas une pr\u00e9occupation m\u00e9dicale, mais peut constituer une autre preuve \u00e0 l\u2019appui du diagnostic de SLD.<\/span><\/p><p><span style=\"font-weight: 400;\">Les <\/span><b>tests g\u00e9n\u00e9tiques<\/b><span style=\"font-weight: 400;\"> pour les mutations (changements) dans les g\u00e8nes SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 et TGFBR2 sont disponibles en cas de forte suspicion de SLD. Le test peut confirmer un diagnostic de syndrome de Loeys-Dietz et, au Canada, il est possible qu&#8217;il soit couvert par le r\u00e9gime d&#8217;assurance-maladie provincial, un r\u00e9gime priv\u00e9, ou les avantages sociaux des employ\u00e9s.\u00a0\u00a0<\/span><\/p><p><span style=\"font-weight: 400;\">Les tests doivent \u00eatre prescrits par un <\/span><b>g\u00e9n\u00e9ticien<\/b><span style=\"font-weight: 400;\">, car il sera en mesure d&#8217;interpr\u00e9ter et de communiquer avec pr\u00e9cision les r\u00e9sultats des tests et de d\u00e9terminer si un test g\u00e9n\u00e9tique est appropri\u00e9 pour d&#8217;autres membres de la famille. Pour tester le syndrome de Loeys-Dietz, les options sont les suivantes :<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><b>Test monog\u00e9nique en s\u00e9rie. <\/b><span style=\"font-weight: 400;\">Les g\u00e8nes dans lesquels des mutations peuvent causer le SLD sont \u00e9valu\u00e9s un par un, g\u00e9n\u00e9ralement dans l&#8217;ordre suivant : TGFBR2, TGFBR1, SMAD3, TGFB2, SMAD2 et TGFB3. Ce test peut \u00eatre utilis\u00e9 lorsque le SLD est suspect\u00e9 en raison des manifestations et\/ou des ant\u00e9c\u00e9dents familiaux.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><b>Panel multig\u00e9nique<\/b><span style=\"font-weight: 400;\">. Un certain nombre de g\u00e8nes li\u00e9s au syndrome de Loeys-Dietz, au syndrome de Marfan et aux an\u00e9vrismes et dissections aortiques h\u00e9r\u00e9ditaires sont \u00e9valu\u00e9s, notamment SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 et TGFBR2. Les g\u00e8nes sp\u00e9cifiques inclus dans le test peuvent diff\u00e9rer en fonction de l&#8217;affection suspect\u00e9e, du m\u00e9decin prescripteur ou du laboratoire d&#8217;analyse. Ce test peut \u00eatre utilis\u00e9 lorsque le SLD est suspect\u00e9 en raison des manifestations et\/ou des ant\u00e9c\u00e9dents familiaux.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><b>Test g\u00e9nomique complet<\/b><span style=\"font-weight: 400;\">. Le g\u00e9nome entier (l&#8217;ensemble des informations g\u00e9n\u00e9tiques d&#8217;un individu) ou une partie du g\u00e9nome est \u00e9valu\u00e9. Ce test peut \u00eatre utilis\u00e9 lorsque les signes et sympt\u00f4mes d&#8217;un individu se retrouvent dans un certain nombre d&#8217;affections h\u00e9r\u00e9ditaires.<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Nous recommandons de rencontrer un <\/span><b>g\u00e9n\u00e9ticien<\/b><span style=\"font-weight: 400;\"> et\/ou un <\/span><b>conseiller en g\u00e9n\u00e9tique<\/b><span style=\"font-weight: 400;\"> avant et apr\u00e8s le test. Ces professionnels soutiennent les familles par l&#8217;\u00e9ducation, la d\u00e9fense des int\u00e9r\u00eats, les ressources et le soutien psychosocial. Ils fournissent des informations sur la nature, l&#8217;h\u00e9r\u00e9dit\u00e9, le d\u00e9pistage et les implications des troubles g\u00e9n\u00e9tiques afin d&#8217;aider les patients \u00e0 prendre des d\u00e9cisions m\u00e9dicales et personnelles \u00e9clair\u00e9es.<\/span><\/p><p><span style=\"font-weight: 400;\">Les <\/span><b>r\u00e9sultats des tests g\u00e9n\u00e9tiques<\/b><span style=\"font-weight: 400;\"> peuvent \u00eatre positifs, n\u00e9gatifs ou de signification inconnue.<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Un <\/span><b>r\u00e9sultat positif<\/b><span style=\"font-weight: 400;\"> signifie que le test a identifi\u00e9 un <\/span><b>variant pathog\u00e8ne<\/b><span style=\"font-weight: 400;\"> (mutation connue pour provoquer une maladie) ou un <\/span><b>variant pathog\u00e8ne probable<\/b><span style=\"font-weight: 400;\"> (mutation susceptible de provoquer une maladie).<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Un <\/span><b>r\u00e9sultat n\u00e9gatif<\/b><span style=\"font-weight: 400;\"> indique que le test a d\u00e9tect\u00e9 une <\/span><b>variante b\u00e9nigne<\/b><span style=\"font-weight: 400;\"> (mutation non connue pour causer une maladie) ou une <\/span><b>variante probablement b\u00e9nigne<\/b><span style=\"font-weight: 400;\"> (mutation non susceptible de causer une maladie), ou n&#8217;a pas trouv\u00e9 de mutation.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Un <\/span><b>r\u00e9sultat de variante de signification inconnue (VUS)<\/b><span style=\"font-weight: 400;\"> signifie que le test a d\u00e9tect\u00e9 une mutation qui peut ou non causer une maladie. Les chercheurs auront besoin d&#8217;\u00e9tudes suppl\u00e9mentaires et de donn\u00e9es sur les patients pour d\u00e9terminer si la mutation est associ\u00e9e \u00e0 la maladie.<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Dans le cas d&#8217;un r\u00e9sultat n\u00e9gatif ou VUS, les personnes peuvent envisager la <\/span><b>mise en banque (stockage) de leur ADN<\/b><span style=\"font-weight: 400;\"> pour des tests g\u00e9n\u00e9tiques futurs. Ces tests futurs pourraient \u00e9ventuellement fournir de nouveaux r\u00e9sultats suite \u00e0 de nouvelles perc\u00e9es dans notre compr\u00e9hension de la g\u00e9n\u00e9tique du SLD. Les professionnels de la sant\u00e9 peuvent entre-temps utiliser les ant\u00e9c\u00e9dents personnels et familiaux pour discuter du diagnostic et du plan de <a href=\"https:\/\/loeysdietzcanada.org\/fr\/syndrome-de-loeys-dietz\/traitement\/\" target=\"_blank\" rel=\"noopener\">traitement<\/a>.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8566239 elementor-widget elementor-widget-spacer\" data-id=\"8566239\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f2776d8 elementor-widget elementor-widget-eael-adv-accordion\" data-id=\"f2776d8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"eael-adv-accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t            <div class=\"eael-adv-accordion\" id=\"eael-adv-accordion-f2776d8\" data-scroll-on-click=\"no\" data-scroll-speed=\"300\" data-accordion-id=\"f2776d8\" data-accordion-type=\"accordion\" data-toogle-speed=\"300\">\n            <div class=\"eael-accordion-list\">\n\t\t\t\t\t<div id=\"rfrences\" class=\"elementor-tab-title eael-accordion-header\" tabindex=\"0\" data-tab=\"1\" aria-controls=\"elementor-tab-content-2541\"><span class=\"eael-advanced-accordion-icon-closed\"><i aria-hidden=\"true\" class=\"fa-accordion-icon fas fa-plus\"><\/i><\/span><span class=\"eael-advanced-accordion-icon-opened\"><i aria-hidden=\"true\" class=\"fa-accordion-icon fas fa-minus\"><\/i><\/span><span class=\"eael-accordion-tab-title\">R\u00e9f\u00e9rences<\/span><i aria-hidden=\"true\" class=\"fa-toggle fas fa-angle-right\"><\/i><\/div><div id=\"elementor-tab-content-2541\" class=\"eael-accordion-content clearfix\" data-tab=\"1\" aria-labelledby=\"rfrences\"><p><span style=\"font-weight: 400\">Loeys, B. L., &amp; Dietz, H. C. (2008, February 28; updated 2018 March 1). Loeys-Dietz Syndrome. <\/span><i><span style=\"font-weight: 400\">GeneReviews<\/span><\/i><span style=\"font-weight: 400\">. Retrieved October 11, 2022, from https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1133\/.\u00a0<\/span><\/p><p>\u00a0<\/p><p><i><span style=\"font-weight: 400\">Questions and answers for patients<\/span><\/i><span style=\"font-weight: 400\">. Blueprint Genetics. (n.d.). Retrieved October 11, 2022, from https:\/\/blueprintgenetics.com\/app\/uploads\/2016\/05\/PatientE28099s_guide_to_understanding_genetic_testing-_PATMIN1-01.pdf\u00a0<\/span><\/p><p>\u00a0<\/p><p><i><span style=\"font-weight: 400\">What is a genetic counsellor?<\/span><\/i><span style=\"font-weight: 400\"> CAGC. (n.d.). Retrieved October 11, 2022, from https:\/\/www.cagc-accg.ca\/index.php?page=353\u00a0<\/span><\/p><\/div>\n\t\t\t\t\t<\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e23c4d4 elementor-widget elementor-widget-spacer\" data-id=\"e23c4d4\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Recevoir un diagnostic de syndrome de Loeys-Dietz Apr\u00e8s avoir re\u00e7u un diagnostic de syndrome de Loeys-Dietz (SLD), les patients et les familles peuvent ressentir une s\u00e9rie d&#8217;\u00e9motions complexes et intenses [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":4444,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"default","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":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","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":"","background-image":"","background-repeat":"repeat","background-position":"center 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