{"id":485,"date":"2025-10-22T14:43:20","date_gmt":"2025-10-22T14:43:20","guid":{"rendered":"https:\/\/www.barnaclinic.com\/blog\/cardiologia\/?p=485"},"modified":"2025-10-22T14:43:20","modified_gmt":"2025-10-22T14:43:20","slug":"malaltia-de-marfan","status":"publish","type":"post","link":"https:\/\/www.barnaclinic.com\/blog\/cardiologia\/ca\/malaltia-de-marfan\/","title":{"rendered":"S\u00edndrome de Marfan: s\u00edmptomes, diagn\u00f2stic i tractament especialitzat en barnacl\u00ednic+"},"content":{"rendered":"<p>El <strong data-start=\"436\" data-end=\"458\">S\u00edndrome de Marfan<\/strong> \u00e9s una <strong data-start=\"466\" data-end=\"507\">malaltia heredit\u00e0ria poc freq\u00fcent<\/strong> que afecta el teixit connectiu, l\u2019\u201cestructura de suport\u201d que mant\u00e9 units \u00f2rgans, vasos sanguinis i ossos. Quan aquest teixit no funciona correctament, poden apar\u00e8ixer alteracions en diferents parts del cos, especialment en el sistema cardiovascular. Tal com explica la <strong data-start=\"791\" data-end=\"812\">Dra. <a href=\"https:\/\/www.barnaclinic.com\/ca\/quadre-medic\/625\/elena\">Elena Arbelo<\/a><\/strong>, cardi\u00f2loga de barnacl\u00ednic+ i especialista en <a href=\"https:\/\/www.barnaclinic.com\/ca\/cardiologia\/cardiopaties-familiars\/\"><strong>cardiopaties familiars<\/strong><\/a>, \u201cla malaltia de Marfan \u00e9s una alteraci\u00f3 del teixit connectiu que es manifesta sobretot a nivell de l\u2019aorta, i el que pot produir \u00e9s una dilataci\u00f3 gran perqu\u00e8 l\u2019aorta, si es dilata molt i amb aquesta mala qualitat del teixit, es pot trencar\u201d. Aquesta dilataci\u00f3 de l\u2019aorta \u2014la gran art\u00e8ria que transporta la sang des del cor\u2014 pot ser greu si no es detecta a temps. Per aix\u00f2, <strong>el diagn\u00f2stic preco\u00e7 i el seguiment especialitzat s\u00f3n essencials per prevenir complicacions i mantenir una bona qualitat de vida<\/strong>.<\/p>\n<p><!--more--><\/p>\n<h2 data-start=\"1379\" data-end=\"1440\">S\u00edndrome de Marfan: s\u00edmptomes i manifestacions m\u00e9s comunes<\/h2>\n<p data-start=\"1442\" data-end=\"1716\">Els <strong data-start=\"1446\" data-end=\"1481\">s\u00edmptomes de la Malaltia de Marfan<\/strong> varien segons la persona i la intensitat de la malaltia. Algunes presenten una <strong data-start=\"1562\" data-end=\"1599\">forma lleu del S\u00edndrome de Marfan<\/strong>, mentre que en altres els signes s\u00f3n m\u00e9s evidents.<br data-start=\"1652\" data-end=\"1655\" \/>Entre les manifestacions f\u00edsiques m\u00e9s habituals s\u2019inclouen:<\/p>\n<ul data-start=\"1718\" data-end=\"1947\">\n<li data-start=\"1718\" data-end=\"1758\">\n<p data-start=\"1720\" data-end=\"1758\"><strong>Al\u00e7ada elevada i extremitats llargues.<\/strong><\/p>\n<\/li>\n<li data-start=\"1759\" data-end=\"1804\">\n<p data-start=\"1761\" data-end=\"1804\"><strong>Dits fins i allargats (aracnodact\u00edlia).<\/strong><\/p>\n<\/li>\n<li data-start=\"1805\" data-end=\"1845\">\n<p data-start=\"1807\" data-end=\"1845\"><strong>Escoliosi o deformitats del t\u00f2rax.<\/strong><\/p>\n<\/li>\n<li data-start=\"1846\" data-end=\"1907\">\n<p data-start=\"1848\" data-end=\"1907\"><strong>Problemes oculars com miopia o luxaci\u00f3 del cristal\u00b7l\u00ed.<\/strong><\/p>\n<\/li>\n<li data-start=\"1908\" data-end=\"1947\">\n<p data-start=\"1910\" data-end=\"1947\"><strong>Dilataci\u00f3 o aneurisma de l\u2019aorta.<\/strong><\/p>\n<\/li>\n<\/ul>\n<p data-start=\"1949\" data-end=\"2156\">L\u2019<strong>afectaci\u00f3 cardiovascular<\/strong> \u00e9s la m\u00e9s rellevant, motiu pel qual es recomana una vigil\u00e0ncia estreta del <strong data-start=\"2060\" data-end=\"2090\">S\u00edndrome de Marfan cor<\/strong>, amb ecocardiogrames peri\u00f2dics i controls de l\u2019arrel a\u00f2rtica.<\/p>\n<h2 data-start=\"2163\" data-end=\"2217\">Tipus i graus d\u2019afectaci\u00f3 de la Malaltia de Marfan<\/h2>\n<p data-start=\"2219\" data-end=\"2760\">Tot i que no existeixen <strong data-start=\"2237\" data-end=\"2268\">tipus de S\u00edndrome de Marfan<\/strong> clarament diferenciats, els especialistes parlen de <strong data-start=\"2323\" data-end=\"2349\">formes lleus o greus<\/strong>, segons el grau d\u2019afectaci\u00f3 dels \u00f2rgans.<br data-start=\"2395\" data-end=\"2398\" \/>La Dra. <strong data-start=\"791\" data-end=\"812\"><a href=\"https:\/\/www.barnaclinic.com\/ca\/quadre-medic\/625\/elena\">Arbelo<\/a><\/strong> recorda que \u201cel que es busca \u00e9s prevenir la mort, b\u00e0sicament, monitoritzant b\u00e9 els di\u00e0metres de l\u2019aorta de manera regular\u201d. En els <strong data-start=\"2550\" data-end=\"2586\">casos de Malaltia de Marfan lleu<\/strong>, l\u2019aorta pot presentar una dilataci\u00f3 m\u00ednima que nom\u00e9s requereix seguiment, mentre que les formes greus poden necessitar cirurgia preventiva per evitar complicacions.<\/p>\n<hr \/>\n<div align=\"center\"><iframe loading=\"lazy\" title=\"YouTube video player\" src=\"https:\/\/www.youtube.com\/embed\/nlC69uJ7PI4\" width=\"387\" height=\"700\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/div>\n<hr \/>\n<h2 data-start=\"2767\" data-end=\"2825\">S\u00edndrome de Marfan i cor: seguiment i tractament<\/h2>\n<p data-start=\"2827\" data-end=\"2979\">A barnacl\u00ednic+, els pacients amb aquesta <strong data-start=\"2867\" data-end=\"2891\">malaltia de Marfan<\/strong> reben una atenci\u00f3 personalitzada per part d\u2019un equip multidisciplinari amb \u00e0mplia experi\u00e8ncia.<\/p>\n<blockquote data-start=\"2980\" data-end=\"3268\">\n<h4 data-start=\"2982\" data-end=\"3268\">\u201cA barnacl\u00ednic+ els podem oferir un diagn\u00f2stic primerenc i un tractament especialitzat en tot aquest tipus de malalties heredit\u00e0ries. Som centre de refer\u00e8ncia tant a nivell nacional com europeu, amb especialistes dedicats exclusivament a aquesta patologia.\u201d<\/h4>\n<p data-start=\"2982\" data-end=\"3268\"><strong data-start=\"791\" data-end=\"812\">Dra. <a href=\"https:\/\/www.barnaclinic.com\/ca\/quadre-medic\/625\/elena\">Elena Arbelo<\/a><\/strong><\/p>\n<\/blockquote>\n<p data-start=\"3270\" data-end=\"3414\">L\u2019objectiu del <strong>tractament del S\u00edndrome de Marfan<\/strong> \u00e9s <strong data-start=\"3301\" data-end=\"3347\">prevenir la ruptura o dissecci\u00f3 de l\u2019aorta<\/strong>, principal causa de complicacions greus.<br data-start=\"3390\" data-end=\"3393\" \/>Les mesures inclouen:<\/p>\n<ul data-start=\"3416\" data-end=\"3976\">\n<li data-start=\"3416\" data-end=\"3637\">\n<p data-start=\"3418\" data-end=\"3637\"><strong data-start=\"3418\" data-end=\"3440\">Tractament m\u00e8dic<\/strong> amb betablocadors o antagonistes dels receptors de l\u2019angiotensina II, a m\u00e9s de nous f\u00e0rmacs com l\u2019<strong data-start=\"3548\" data-end=\"3562\">al\u00b7lopurinol<\/strong>, designat recentment com a medicament orfe per a aquesta malaltia.<\/p>\n<\/li>\n<li data-start=\"3638\" data-end=\"3741\">\n<p data-start=\"3640\" data-end=\"3741\"><strong data-start=\"3640\" data-end=\"3677\">Controls cardiol\u00f2gics regulars<\/strong>, amb seguiment de l\u2019arrel a\u00f2rtica mitjan\u00e7ant ecocardiografia.<\/p>\n<\/li>\n<li data-start=\"3742\" data-end=\"3829\">\n<p data-start=\"3744\" data-end=\"3829\"><strong data-start=\"3744\" data-end=\"3766\">Cirurgia preventiva<\/strong> quan el di\u00e0metre de l\u2019aorta supera els valors de risc.<\/p>\n<\/li>\n<li data-start=\"3830\" data-end=\"3976\">\n<p data-start=\"3832\" data-end=\"3976\"><strong data-start=\"3832\" data-end=\"3861\">Exercici f\u00edsic moderat<\/strong>, ja que <a href=\"https:\/\/www.clinicbarcelona.org\/ca\/noticies\/lexercici-fisic-moderat-millora-alguns-dels-simptomes-de-la-sindrome-de-marfan-en-ratolins\">estudis de l\u2019Hospital Cl\u00ednic de Barcelona<\/a> mostren que pot frenar la progressi\u00f3 de l\u2019aneurisma.<\/p>\n<\/li>\n<\/ul>\n<h2 data-start=\"3983\" data-end=\"4046\">Viure amb S\u00edndrome de Marfan: diagn\u00f2stic preco\u00e7 i esperan\u00e7a<\/h2>\n<p data-start=\"4048\" data-end=\"4344\">Gr\u00e0cies als aven\u00e7os m\u00e8dics i a l\u2019experi\u00e8ncia de centres de refer\u00e8ncia com barnacl\u00ednic+, el <strong>pron\u00f2stic del S\u00edndrome de Marfan<\/strong> ha millorat notablement a Europa. El diagn\u00f2stic preco\u00e7 i el seguiment especialitzat permeten que les persones afectades puguin portar una vida activa i saludable.<\/p>\n<p data-start=\"4346\" data-end=\"4372\">La Dra. Arbelo conclou:<\/p>\n<blockquote data-start=\"4373\" data-end=\"4465\">\n<h4 data-start=\"4375\" data-end=\"4465\">\u201cA barnacl\u00ednic+ podem oferir tractaments per al S\u00edndrome de Marfan que s\u2019ajusten amb especialistes dedicats exclusivament a aquesta patologia.\u201d<\/h4>\n<\/blockquote>\n<hr \/>\n<div id=\"estoy-interesado\" class=\"destacat-site\">\n<h3 style=\"padding-left: 15px; padding-right: 15px;\" align=\"center\"><span style=\"color: white;\">Vols m\u00e9s informaci\u00f3 sobre el diagn\u00f2stic i el tractament del S\u00edndrome de Marfan i altres cardiopaties familiars?<\/span><\/h3>\n<p style=\"font-size: 18px; padding-left: 15px; padding-right: 15px;\" align=\"center\">Contacta amb la <strong>Unitat de Cardiopaties Familiars de barnacl\u00ednic+.<\/strong><\/p>\n<p style=\"padding-left: 30px; padding-right: 20px;\" align=\"center\"><a class=\"button\" href=\"https:\/\/www.barnaclinic.com\/es\/solicitar-cita\/?profesional=625\">ET PODEM AJUDAR<\/a><\/p>\n<\/div>\n<hr \/>\n<div align=\"center\"><iframe loading=\"lazy\" title=\"YouTube video player\" src=\"https:\/\/www.youtube.com\/embed\/IgjHMeMsTmM?si=9TEOZOzK73__cV-A\" width=\"700\" height=\"394\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/div>\n<hr \/>\n","protected":false},"excerpt":{"rendered":"<p>El S\u00edndrome de Marfan \u00e9s una malaltia heredit\u00e0ria poc freq\u00fcent que afecta el teixit connectiu, l\u2019\u201cestructura de suport\u201d que mant\u00e9 units \u00f2rgans, vasos sanguinis i ossos. Quan aquest teixit no funciona correctament, poden apar\u00e8ixer alteracions en diferents parts del cos, especialment en el sistema cardiovascular. Tal com explica la Dra. Elena Arbelo, cardi\u00f2loga de barnacl\u00ednic+ [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":480,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[201,202,206,207,209,142],"tags":[456,419,216,448,449,450,143,457,451,452,453,454,455,459],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v19.14 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Malaltia de Marfan: s\u00edmptomes, diagn\u00f2stic i tractament<\/title>\n<meta name=\"description\" content=\"La s\u00edndrome de Marfan \u00e9s una cardiopatia heredit\u00e0ria que afecta cor, gots i teixit connectiu. 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