{"id":27752,"date":"2025-06-24T15:52:24","date_gmt":"2025-06-24T13:52:24","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-cardiomiopatie-restrictiva-familiala\/"},"modified":"2026-02-27T18:03:47","modified_gmt":"2026-02-27T16:03:47","slug":"panel-cardiomiopatie-restrictiva-familiala","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-cardiomiopatie-restrictiva-familiala\/","title":{"rendered":"Panel Cardiomiopatie restrictiva familiala"},"content":{"rendered":"<p>Cardiomiopatia restrictiv\u0103 se caracterizeaz\u0103 prin rigiditatea peretelui ventricular, care limiteaz\u0103 umplerea diastolic\u0103 a inimii \u0219i poate duce la:<\/p>\n<\/p>\n<ul>\n<li>insuficien\u021b\u0103 cardiac\u0103 cu frac\u021bie de ejec\u021bie p\u0103strat\u0103<\/li>\n<li>hipertensiune atrial\u0103<\/li>\n<li>aritmii \u0219i risc de moarte subit\u0103, \u00een special \u00een formele familiale<\/li>\n<\/ul>\n<p><strong>Testul genetic permite:<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea unei cauze ereditare a RCM<\/li>\n<li>diferen\u021bierea \u00eentre forme familiale \u0219i sporadice<\/li>\n<li>screeningul rudelor de gradul I pentru purt\u0103tori de muta\u021bii<\/li>\n<\/ul>\n<p>Prin tehnologia NGS pe un panel de 17 gene relevante, testul ofer\u0103 precizie ridicat\u0103 \u0219i valoare clinic\u0103.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>dispnee, fatigabilitate, edeme periferice<\/li>\n<li>hipertensiune atrial\u0103 \u0219i dilatare atrial\u0103<\/li>\n<li>palpita\u021bii sau aritmii<\/li>\n<li>insuficien\u021b\u0103 cardiac\u0103 progresiv\u0103<\/li>\n<li>istoric familial de moarte subit\u0103 sau cardiomiopatie<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bilor cu diagnostic clinic sau ecocardiografic de RCM<\/li>\n<li>rudele de gradul I ale unui pacient cu muta\u021bie detectat\u0103<\/li>\n<li>medici cardiologi \u0219i geneticieni implica\u021bi \u00een managementul RCM<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere NGS a regiunilor codante (exoni) ale celor 17 gene din panel (target exome)<\/li>\n<li>detectarea varia\u021biilor: SNV, indels \u0219i alte muta\u021bii rare cu impact clinic<\/li>\n<li>interpretare conform ghidurilor ACMG \u0219i raportarea variantelor patologice, probabil patologice \u0219i a celor de semnifica\u021bie incert\u0103 (VUS)<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea molecular\u0103 a etiologiei RCM<\/li>\n<li>identificarea pacien\u021bilor cu risc crescut pentru aritmii sau insuficien\u021b\u0103 cardiac\u0103<\/li>\n<li>screening familial pentru preven\u021bie secundar\u0103<\/li>\n<li>clarificarea prognosticului \u0219i ghidarea deciziilor terapeutice<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>rezultatul negativ nu exclude componenta genetic\u0103 a RCM<\/li>\n<li>variantele de semnifica\u021bie incert\u0103 (VUS) pot necesita reevaluare \u00een timp<\/li>\n<li>analiza se concentreaz\u0103 pe regiunile codante, f\u0103r\u0103 acoperire complet\u0103 a regiunilor necodante sau epigenetice<\/li>\n<li>diagnosticul genetic trebuie integrat cu evaluarea clinic\u0103 \u0219i imagistic\u0103 cardiologic\u0103<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103 \u0219i condi\u021bii pentru recoltare<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2nge venos \u00een tub EDTA<\/li>\n<li>recoltare standard, f\u0103r\u0103 repaus alimentar specific<\/li>\n<li>consiliere genetic\u0103 pretestare recomandat\u0103<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>ecocardiografie \u0219i RMN cardiac<\/li>\n<li>evaluare genetic\u0103 a rudelor de gradul I dac\u0103 se identific\u0103 muta\u021bie<\/li>\n<li>alte paneluri cardiologice dac\u0103 exist\u0103 fenotip overlap (hipertrofic\u0103 sau dilatativ\u0103)<\/li>\n<li>consult genetic post-testare pentru interpretarea rezultatelor \u0219i planificare familial\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Panelul este un test genetic molecular de tip <em>target exome<\/em> care analizeaz\u0103 17 gene asociate cu cardiomiopatie restrictiv\u0103 (RCM). Scopul este identificarea muta\u021biilor patogene sau probabil patogene care pot determina rigiditatea ventricular\u0103, insuficien\u021b\u0103 cardiac\u0103 \u0219i aritmii, \u00een context familial sau sporadic.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>ACTC1, ACTN2, DES, FHL1, GLA, HFE, MYBPC3, MYH7, MYL2, MYL3, MYPN, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":{"0":"post-27752","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","8":"pa_conditii-medicale-afecti-cardiomiopatii-dilatativa-hipertrofica-restrictiva","10":"first","11":"instock","12":"sale","13":"virtual","14":"purchasable","15":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27752","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=27752"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27752"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27752"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27752"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}