{"id":68479,"date":"2025-02-19T11:07:09","date_gmt":"2025-02-19T09:07:09","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=68479"},"modified":"2025-07-01T07:56:13","modified_gmt":"2025-07-01T04:56:13","slug":"profil-genetic-tahicardie-ventriculara-polimorfica-catecolaminergica","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-tahicardie-ventriculara-polimorfica-catecolaminergica\/","title":{"rendered":"Profil genetic tahicardie ventriculara polimorfica catecolaminergica"},"content":{"rendered":"
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Informatii generale despre Profilul genetic tahicardie ventriculara polimorfica catecolaminergica:\u00a0<\/strong><\/h2>\n

Tahicardia ventricular\u0103 polimorfic\u0103 catecolaminergic\u0103 (TVPC) este o boal\u0103 autozomal dominant\u0103 a mu\u0219chiului cardiac, cu o inciden\u021ba de aproximativ 1:10000. Aritmiile sunt induse de desc\u0103rc\u0103rile adrenergice \u0219i se manifest\u0103 \u00eencep\u00e2nd cu o v\u00e2rst\u0103 medie de 8 ani. Netratat\u0103, TVPC poate duce la apari\u021bia sincopelor, \u00eenainte de v\u00e2rsta de 40 de ani \u00een 60% dintre cazuri, iar \u00een 30-35% dintre cazuri, poate produce moarte subit\u0103, \u00eenaintea v\u00e2rstei de 30 de ani.<\/p>\n

Tahicardiile ventriculare polimorfice \u0219i bidirec\u021bionale sunt specifice, EKG-ul de repaus put\u00e2nd avea aspect normal. Cu c\u00e2t apari\u021bia sincopelor se produce mai devreme, cu at\u00e2t prognosticul este mai rezervat; riscul de apari\u021bie a evenimentelor cardiace este de 4 ori mai mare la sexul masculin fa\u021b\u0103 de cel feminin. Variantele patogene \u00een gena RYR2 <\/em>pot fi identificate la 40-70% dintre pacien\u021bii cu TVPC. Variante rare \u00een gena CASQ2 <\/em>(care codific\u0103 produc\u021bia de calsechestrin\u0103) \u0219i \u00een gena TECRL <\/em>sunt identificate la aproximativ 3-5% dintre pacien\u021bi, \u0219i pot duce la o form\u0103 autozomal recesiv\u0103 a TVPC.<\/p>\n

Receptorul cardiac pentru rianodina, codificat de gena RYR2<\/em>, este cel mai important canal de eflux de calciu al reticulului sarcoplasmatic \u0219i joac\u0103 un rol central \u00een activarea miocitelor cardiace. Tratamentul de elec\u021bie este cel cu beta-blocante. Chiar \u0219i sub tratament, 30% dintre pacien\u021bi r\u0103m\u00e2n simptomatici \u0219i pot necesita un defibrilator implantabil.<\/p>\n

8 gene vizate:\u00a0<\/strong>CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN<\/p>\n

Prevalen\u021b\u0103:<\/strong> 1:5000 p\u00e2n\u0103 la 1:10000<\/p>\n

Mod de transmitere:\u00a0<\/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 \u2013<\/strong> vacutainer cu EDTA, capac mov.<\/p>\n

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

Stabilitate prob\u0103:<\/strong> 72 ore, 2-8\u00b0C.<\/p>\n

Formular consim\u021b\u0103m\u00e2nt<\/strong><\/a><\/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 tahicardie ventriculara polimorfica catecolaminergica:\u00a0 Tahicardia ventricular\u0103 polimorfic\u0103 catecolaminergic\u0103 (TVPC) este o boal\u0103 autozomal dominant\u0103 a mu\u0219chiului cardiac, cu o inciden\u021ba de aproximativ 1:10000. Aritmiile sunt induse de desc\u0103rc\u0103rile adrenergice \u0219i se manifest\u0103 \u00eencep\u00e2nd cu o v\u00e2rst\u0103 medie de 8 ani. Netratat\u0103, TVPC poate duce la apari\u021bia sincopelor, \u00eenainte de v\u00e2rsta … 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-68479","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\/68479","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=68479"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68479"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68479"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68479"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68479"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}