{"id":68491,"date":"2025-02-19T11:16:13","date_gmt":"2025-02-19T09:16:13","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&#038;p=68491"},"modified":"2025-07-01T07:56:19","modified_gmt":"2025-07-01T04:56:19","slug":"profil-genetic-sindrom-qt-scurt","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-sindrom-qt-scurt\/","title":{"rendered":"Profil genetic sindrom QT scurt"},"content":{"rendered":"<div class=\"info-tabs\">\n<div class=\"info-content content-informatii-generale\">\n<h2><strong>Informatii generale despre Profilul genetic sindrom QT scurt:<\/strong><\/h2>\n<p><strong>CONTEXT CLINIC<\/strong><\/p>\n<p>La pacien\u021bii cu sindrom de QT scurt, evenimentele cardiace pot ap\u0103rea, la orice v\u00e2rst\u0103; acestea se produc mai frecvent fie \u00een primii ani de via\u021b\u0103, fie la o v\u00e2rst\u0103 \u00eenaintat\u0103. Riscul cumulativ de declan\u0219are a unui stop cardiac \u00een a cincea decad\u0103 a vie\u021bii este de aproximativ 40%, fapt ce accentueaz\u0103 importan\u021ba detec\u021biei timpurii a bolii. Sensibilitatea testelor de screening genetic molecular pentru sindromul de QT scurt este de 15-25%, a\u0219adar testarea genetic\u0103 este recomandat\u0103 la pacien\u021bii care prezint\u0103 un istoric familial pozitiv.<\/p>\n<p>Sindromul de QT scurt este caracterizat printr-o scurtare a timpului de repolarizare ventricular\u0103, pe EKG put\u00e2nd fi detectat un interval QTc &lt;340-350 ms \u0219i unde T \u00eenalte sau bifazice, a c\u0103ror apari\u021bie cre\u0219te foarte mult riscul de sincop\u0103, tahicardie ventricular\u0103 \u0219i moarte subit\u0103.<\/p>\n<p>Variante patogene \u00een genele ce codific\u0103 canalele de potasiu (<em>KCNQ1, KCNH2 <\/em>\u0438 <em>KCNJ2<\/em>) se reg\u0103sesc \u00een aproximativ 70% dintre cazurile cu etiologie genetic\u0103. Aceste variante duc la intensificarea efluxului celular al potasiului, astfel ritmul cardiac normal nu mai poate fi sus\u021binut. \u00cen cazuri rare, pot fi identificate variante \u00een genele ce codific\u0103 canale de calciu (<em>CACNA1C, CACNB2 <\/em>\u0438 <em>CACNA2D1<\/em>), cu pierderea func\u021biei acestora.<\/p>\n<p><strong>6 GENE VIZATE:\u00a0<\/strong>CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1<\/p>\n<p><strong>Prevalen\u021b\u0103<\/strong> \u2013 1:10000 (\u00een popula\u021bia caucazian\u0103)<\/p>\n<p><strong>Transmitere<\/strong> \u2013\u00a0Autozomal dominant\u0103<\/p>\n<h2><strong>Preg\u0103tire pacient <\/strong><\/h2>\n<p>nu este necesara pregatirea pacientilor.<\/p>\n<p><strong>Specimen recoltat <\/strong>\u2013 s\u00e2nge venos.<\/p>\n<p><strong>Recipient de recoltare <\/strong>\u2013 vacutainer cu EDTA, capac mov.<\/p>\n<p><strong>Cantitatea recoltat\u0103 <\/strong>\u2013 5 ml.<\/p>\n<p><strong>Stabilitate prob\u0103: <\/strong>7 zile la 2-8\u00ba C<\/p>\n<h2>Referin\u021be:<\/h2>\n<p><a href=\"http:\/\/www.medicover-genetics.com\/\" target=\"_blank\" rel=\"noopener nofollow external noreferrer\" data-wpel-link=\"external\">www.medicover-genetics.com<\/a><\/p>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Informatii generale despre Profilul genetic sindrom QT scurt: CONTEXT CLINIC La pacien\u021bii cu sindrom de QT scurt, evenimentele cardiace pot ap\u0103rea, la orice v\u00e2rst\u0103; acestea se produc mai frecvent fie \u00een primii ani de via\u021b\u0103, fie la o v\u00e2rst\u0103 \u00eenaintat\u0103. Riscul cumulativ de declan\u0219are a unui stop cardiac \u00een a cincea decad\u0103 a vie\u021bii este &hellip; <a href=\"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-sindrom-qt-scurt\/\">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-68491","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\/68491","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=68491"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68491"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68491"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68491"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68491"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}