{"id":68487,"date":"2025-02-19T11:11:16","date_gmt":"2025-02-19T09:11:16","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=68487"},"modified":"2025-07-01T07:56:18","modified_gmt":"2025-07-01T04:56:18","slug":"profil-genetic-pentru-cardiomiopatie-hipertrofica","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-cardiomiopatie-hipertrofica\/","title":{"rendered":"Profil genetic pentru cardiomiopatie hipertrofica"},"content":{"rendered":"
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Informatii generale Profilul genetic pentru cardiomiopatie hipertrofica:<\/strong><\/h2>\n

Cardiomiopatia hipertrofic\u0103 este o boal\u0103 structural\u0103 a mu\u0219chiului cardiac. Speran\u021ba medie de via\u021b\u0103 a celor afecta\u021bi este de 66 de ani, prognosticul fiind dependent de cauza molecular\u0103 subiacent\u0103. Aproximativ 2000 de variante patogene, \u00een peste 40 de gene, au fost identificate \u00een asociere cu cardiomiopatia hipertrofic\u0103, dintre care majoritatea codific\u0103 proteine cardiace structurale.<\/p>\n

Aproximativ 90% dintre aceste variante au fost identificate \u00een gene care codific\u0103 lan\u021bul greu al beta-miozinei (MYH7), protein\u0103 C de legare a miozinei (MYBPC3), troponina T (TNNT2) \u0219i troponina I (TNNI3).<\/p>\n

Cardiomiopatia hipertrofic\u0103 este asociat\u0103 cu o cre\u0219tere asimetric\u0103 a masei musculare a ventriculului st\u00e2ng, cu implicarea septului interventricular, ceea ce va duce la modific\u0103ri caracteristice pe EKG (unde Q, segment ST \u0219i und\u0103 P). Expresia fenotipic\u0103 variaz\u0103 de la forme benigne cu penetran\u021b\u0103 incomplet\u0103, p\u00e2n\u0103 la forme severe, cu un risc foarte mare de moarte subit\u0103, \u00eenc\u0103 din copil\u0103rie.<\/p>\n

60 gene vizate:<\/strong> ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ANKRD1, BAG3, BRAF, CACNA1C, CAV3, CALR3, CBL, CHRM2, CPT2, CSRP3, CTF1, DES, ELAC2, FHL1, FHL2, FLNC, GAA, GATA4, GLA, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, NF1, PLN, PDLIM5, PRKAG2, PTPN11, RAF1, RASA1, SHOC2, SOS1, SPRED1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL<\/p>\n

Diagnosticul de rutin\u0103 poate detecta, variante patogene \u00een aproximativ 60% dintre cazurile de cardiomiopatie hipertrofic\u0103. Dele\u021biile unui singur exon sau ale \u00eentregii gene sunt foarte rare (mai pu\u021bin de 1% dintre toate cazurile) \u0219i ele sunt analizate \u00een cadrul protocolului de diagnostic. Reevaluarea periodic\u0103 este recomandat\u0103, inclusiv la pacien\u021bii asimptomatici.<\/p>\n

Majoritatea pacien\u021bilor cu cardiomiopatie hipertrofic\u0103 sunt asimptomatici sau prezint\u0103 simptome minime \u0219i nu necesit\u0103 terapie farmacologic\u0103. Totu\u0219i, la pacien\u021bii cu risc crescut de moarte subit\u0103 cardiac\u0103 prin tahicardie ventricular\u0103, acesta poate fi considerabil redus prin implantarea unui cardiodefibrilator.<\/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 Profilul genetic pentru cardiomiopatie hipertrofica: Cardiomiopatia hipertrofic\u0103 este o boal\u0103 structural\u0103 a mu\u0219chiului cardiac. Speran\u021ba medie de via\u021b\u0103 a celor afecta\u021bi este de 66 de ani, prognosticul fiind dependent de cauza molecular\u0103 subiacent\u0103. Aproximativ 2000 de variante patogene, \u00een peste 40 de gene, au fost identificate \u00een asociere cu cardiomiopatia hipertrofic\u0103, dintre care … 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-68487","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\/68487","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=68487"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68487"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68487"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68487"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68487"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}