{"id":68490,"date":"2025-02-19T11:15:02","date_gmt":"2025-02-19T09:15:02","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=68490"},"modified":"2025-07-01T07:56:19","modified_gmt":"2025-07-01T04:56:19","slug":"profil-genetic-cardiomiopatie-restrictiva","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-cardiomiopatie-restrictiva\/","title":{"rendered":"Profil genetic cardiomiopatie restrictiva"},"content":{"rendered":"
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  1. Informatii generale despre Profilul genetic cardiomiopatie restrictiva:<\/strong><\/li>\n<\/ol>\n

    CONTEXT CLINIC<\/strong><\/p>\n

    Cardiomiopatia restrictiv\u0103 este o boal\u0103 rar\u0103, caracterizat\u0103 prin restric\u021bia umplerii ventriculare \u0219i volum diastolic redus, cu func\u021bie sistolic\u0103 neafectat\u0103 \u0219i grosime miocardic\u0103 normal\u0103 sau aproape normal\u0103. Boala poate ap\u0103rea la orice v\u00e2rst\u0103, \u00eencepand cu copilaria \u0219i p\u00e2n\u0103 la o v\u00e2rst\u0103 adult\u0103.<\/p>\n

    Simptomatologia pediatric\u0103 include deficit de dezvoltare, fatigabilitate \u0219i sincope. Forma sever\u0103 este reprezentat\u0103 de apari\u021bia edemelor, tensiune arterial\u0103 crescut\u0103, ficat m\u0103rit de volum, acumul\u0103ri patologice de fluide \u00een cavitatea abdominal\u0103 (ascit\u0103) \u0219i congestie pulmonar\u0103. De\u0219i unii copii r\u0103m\u00e2n asimptomatici, moartea subit\u0103 poate surveni ca urmare a insuficien\u021bei cardiace. F\u0103r\u0103 tratament, majoritatea copiilor afecta\u021bi supravie\u021buiesc doar c\u00e2\u021biva ani dup\u0103 stabilirea diagnosticului.<\/p>\n

    Clinic, adultul prezint\u0103 dispnee, fatigabilitate \u0219i toleran\u021b\u0103 redus\u0103 la exerci\u021bii fizice. Unii indivizi pot avea aritmii, palpita\u021bii \u0219i ame\u021beal\u0103, iar apari\u021bia trombozei este frecvent\u0103. F\u0103r\u0103 tratament, aproximativ o treime dintre adul\u021bi nu supravie\u021buiesc mai mult de 5 ani de la stabilirea diagnosticului. \u00centr-un studiu pe 10 pacien\u021bi ne\u00eenrudi\u021bi, diagnostica\u021bi cu cardiomiopatie restrictiv\u0103, 7 dintre ace\u0219tia au prezentat muta\u021bii \u00een gena TNNI3<\/em>. Au mai fost identificate o serie de alte gene implicate, inclusiv TNNT2, ACTC1 <\/em>\u0438 DES<\/em>.<\/p>\n

    6 gene vizate:\u00a0<\/strong>DES, FLNC, MYBPC3, MYH7, TNNI3, TNNT2<\/p>\n

    Prevalen\u021b\u0103:<\/strong> necunoscut\u0103, boal\u0103 rar\u0103;<\/p>\n

    Mod de transmitere:<\/strong> Autozomal dominant\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:<\/p>\n

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

    Informatii generale despre Profilul genetic cardiomiopatie restrictiva: CONTEXT CLINIC Cardiomiopatia restrictiv\u0103 este o boal\u0103 rar\u0103, caracterizat\u0103 prin restric\u021bia umplerii ventriculare \u0219i volum diastolic redus, cu func\u021bie sistolic\u0103 neafectat\u0103 \u0219i grosime miocardic\u0103 normal\u0103 sau aproape normal\u0103. Boala poate ap\u0103rea la orice v\u00e2rst\u0103, \u00eencepand cu copilaria \u0219i p\u00e2n\u0103 la o v\u00e2rst\u0103 adult\u0103. Simptomatologia pediatric\u0103 include deficit de … 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-68490","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\/68490","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=68490"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68490"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68490"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68490"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68490"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}