{"id":68494,"date":"2025-02-19T11:17:32","date_gmt":"2025-02-19T09:17:32","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=68494"},"modified":"2025-07-01T07:56:19","modified_gmt":"2025-07-01T04:56:19","slug":"profil-genetic-defecte-cardiace-congenitale-sindromice","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-defecte-cardiace-congenitale-sindromice\/","title":{"rendered":"Profil genetic defecte cardiace congenitale sindromice"},"content":{"rendered":"
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Informatii generale despre Profilul genetic defecte c<\/strong>ardiace congenitale sindromice:<\/strong><\/h2>\n

Anevrismele aortei toracice \u0219i disec\u021biile de aort\u0103 pot ap\u0103rea ca parte component\u0103 a unui sindrom genetic sau izolat. Aproximativ 10-20% dintre acestea sunt transmise autozomal dominant, cu penetran\u021b\u0103 redus\u0103 \u0219i expresivitate variabil\u0103. Anevrismele \u0219i disec\u021biile de aort\u0103 toracic\u0103 sunt heterogene din punct de vedere genetic.<\/p>\n

\u00cen 14-20 % dintre cazuri au fost identificate muta\u021bii \u00een gena ACTA2, \u00een 2,5% dintre cazuri muta\u021bii \u00een gena TGFBR2 iar muta\u021bii \u00een ambele gene TGFBR1 \u0219i TGFBR2 au fost identificate la 5% dintre cazurile de anevrisme de aorta toracic\u0103 \u0219i disec\u021bie de aort\u0103.<\/p>\n

Anevrismele aortice sunt de regul\u0103 asimptomatice. Totu\u0219i, \u00een func\u021bie de m\u0103rimea lor, rata de cre\u0219tere \u0219i localizarea lor, anevrismele pot produce durere la nivelul mandibulei, g\u00e2tului, toracelui sau spatelui; edeme ale membrelor, g\u00e2tului sau capului, dificult\u0103\u021bi la degluti\u021bie, disfonie, dispnee, wheezing, tuse cronic\u0103, tuse sanguinolent\u0103. Disec\u021biile de aort\u0103 sunt de obicei severe, cu durere toracic\u0103 instalat\u0103 brusc, sau durere la nivelul toracelui posterior. Pot s\u0103 mai apar\u0103, de asemenea, tegumente palide, puls slab, parestezii sau paralizii.<\/p>\n

Prevalen\u021b\u0103<\/strong> \u2013 1:5000<\/p>\n

Transmitere<\/strong> \u2013\u00a0Autozomal dominant\u0103<\/p>\n

Sindromul Loeys-Dietz<\/strong>\u00a0<\/strong><\/p>\n

Se caracterizeaz\u0103 prin: afectare vascular\u0103 (anevrisme \u0219i disec\u021bii arteriale cerebrale, toracice \u0219i abdominale), afectare scheletic\u0103 (pectus excavatum sau pectus carinatum, scolioz\u0103, hipermobilitate articular\u0103, arahnodactilie, picior str\u00e2mb congenital, instabilitatea m\u0103duvei spin\u0103rii), afectare craniofacial\u0103 (hipertelorism, strabism, despic\u0103tur\u0103 palatin\u0103 \u0219i a uvulei, craniosinostoz\u0103) \u0219i afectare tegumentar\u0103 (tegument translucid, catifelat, echimoze, cicatrici distrofice).<\/p>\n

Exist\u0103 5 tipuri de sindrom Loeys-Dietz: SLD 1 (TGFBR1), SLD 2 (TGFBR2), SLD 3 (SMAD3), SLD 4 (TGFB2), SLD 5 (TGFB3) \u0219i SLD 6 (SMAD2). Severitatea bolii depinde de care dintre genele implicate \u00een calea de semnalizare TGF-beta este afectat\u0103 (LDS1=LDS2>LDS3>LDS4>LDS5). Detec\u021bia unei variante patogene \u00eentr-una din genele mai sus men\u021bionate poate diagnostica sindromul Loeys-Dietz, dac\u0103 se asociaz\u0103 cu: r\u0103d\u0103cina aortic\u0103 l\u0103rgit\u0103 (scorul z >2.0), disec\u021bie de tip A, sau oricare alt tip de afectare: vascular\u0103, scheletic\u0103, tegumentar\u0103 sau cranio-facial\u0103.<\/p>\n

Ca \u0219i frecven\u021ba a variantelor \u00een diversele gene implicate \u00een sindromul Loeys-Dietz, 55- 60% dintre pacien\u021bi au prezentat variante genetice patogene \u00een gena TGFBR2, 5-10% \u00een genele SMAD3 sau TGFB2 \u0219i 1-5% \u00een genele TGFB3 \u0219i SMAD2. Rata de detec\u021bie a variantelor \u00een genele TGFBR1\/2 la pacien\u021bi cu sindrom Loeys-Dietz de tip 1 \u0219i 2 este de 95%. Pacien\u021bii care prezint\u0103 variante patogene \u00een genele TGFBR1 sau TGFBR2 sunt clinic nedetectabili. Pacien\u021bii cu variante \u00een gena SMAD3 prezint\u0103 un risc mai mare de osteoartrit\u0103. Cei cu variante patogene \u00een gena TGFB2 au, de regul\u0103, \u00een\u0103l\u021bime mai mare, insuficient\u0103 mitral\u0103 \u0219i multe alte elemente clinice similare sindromului Marfan, \u00een timp ce pacien\u021bii cu variante \u00een TGFB3 prezint\u0103 elemente clinice asem\u0103n\u0103toare sindroamelor Shprintzen-Goldberg \u0219i Loeys-Dietz, cu afectare cardio-vascular\u0103.<\/p>\n

Preg\u0103tire pacient<\/strong><\/h2>\n

nu este necesara pregatirea pacientilor.<\/p>\n

Specimen recoltat <\/strong>\u2013 s\u00e2nge venos.<\/p>\n

Recipient de recoltare <\/strong>\u2013 vacutainer cu EDTA, capac mov.<\/p>\n

Cantitatea recoltat\u0103 <\/strong>\u2013 5 ml.<\/p>\n

Stabilitate prob\u0103: <\/strong>7 zile la 2-8\u00ba C<\/p>\n

Referin\u021be:<\/h2>\n

www.medicover-genetics.com<\/a><\/p>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"

Informatii generale despre Profilul genetic defecte cardiace congenitale sindromice: Anevrismele aortei toracice \u0219i disec\u021biile de aort\u0103 pot ap\u0103rea ca parte component\u0103 a unui sindrom genetic sau izolat. Aproximativ 10-20% dintre acestea sunt transmise autozomal dominant, cu penetran\u021b\u0103 redus\u0103 \u0219i expresivitate variabil\u0103. Anevrismele \u0219i disec\u021biile de aort\u0103 toracic\u0103 sunt heterogene din punct de vedere genetic. \u00cen … Continued<\/a><\/p>","protected":false},"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"product_brand":[],"product_cat":[15],"product_tag":[],"class_list":{"0":"post-68494","1":"product","2":"type-product","3":"status-publish","5":"product_cat-uncategorized","7":"first","8":"instock","9":"shipping-taxable","10":"purchasable","11":"product-type-simple"},"_links":{"self":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product\/68494","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/types\/product"}],"replies":[{"embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/comments?post=68494"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68494"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68494"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68494"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68494"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}