{"id":26746,"date":"2025-06-24T14:20:35","date_gmt":"2025-06-24T12:20:35","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-cardiomiopatie-dilatativa-familiala\/"},"modified":"2026-02-27T17:53:01","modified_gmt":"2026-02-27T15:53:01","slug":"panel-cardiomiopatie-dilatativa-familiala","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-cardiomiopatie-dilatativa-familiala\/","title":{"rendered":"Panel Cardiomiopatie dilatativa familiala"},"content":{"rendered":"<p>Cardiomiopatia dilatativ\u0103 este o afec\u021biune \u00een care ventriculul st\u00e2ng (sau ambii ventriculi) devine dilatat, iar contrac\u021bia miocardic\u0103 este redus\u0103, ceea ce poate conduce la insuficien\u021b\u0103 cardiac\u0103, aritmii \u0219i moarte subit\u0103.<\/p>\n<\/p>\n<p><strong>Testul genetic permite:<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea cauzei ereditare a afec\u021biunii<\/li>\n<li>diferen\u021bierea \u00eentre forme familiale \u0219i forme dob\u00e2ndite<\/li>\n<li>screeningul rudelor de gradul I pentru purt\u0103torii de muta\u021bii<\/li>\n<li>o evaluare precis\u0103 \u0219i eficient\u0103 din punct de vedere al costurilor<\/li>\n<\/ul>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>dilatarea ventriculului st\u00e2ng cu frac\u021bie de ejec\u021bie redus\u0103<\/li>\n<li>insuficien\u021b\u0103 cardiac\u0103<\/li>\n<li>aritmii ventriculare sau supraventriculare<\/li>\n<li>moarte subit\u0103 neexplicat\u0103 \u0219i\/sau istoric familial de transplant cardiac, ICD (defibrilator implantabil) sau sincope<\/li>\n<\/ul>\n<\/p>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bilor cu diagnostic clinic de cardiomiopatie dilatativ\u0103, mai ales dac\u0103 exist\u0103 suspiciune de component\u0103 familial\u0103 (rude de grad I afectate)<\/li>\n<li>pacien\u021bilor cu istoric de aritmii ventriculare severe, moarte subit\u0103 \u00een familie, transplant sau ICD implantat la v\u00e2rst\u0103 t\u00e2n\u0103r\u0103<\/li>\n<li>rudelor de gradul I ale unui pacient identificat cu muta\u021bie relevant\u0103, pentru test genetic de screening<\/li>\n<li>medicilor cardiologi \u0219i geneticieni care gestioneaz\u0103 pacien\u021bi cu boli cardiace ereditare<\/li>\n<li><strong>persoanelor pentru care exist\u0103 obliga\u021bia medical\u0103 de evaluare genetic\u0103 \u00een contextul cardiomiopatiei familiale<\/strong><\/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 genelor incluse \u00een panel (<em>target exome<\/em>)<\/li>\n<li>detectarea varia\u021biilor: SNV (single nucleotide variants), inser\u021bii\/dele\u021bii (indels), variante rare cu impact probabil patogenic<\/li>\n<li>interpretare clinic\u0103 conform ghidurilor interna\u021bionale (ex. ACMG) \u0219i raportarea variantelor patogene, probabil patogene \u0219i a variantelor cu 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>confirmare molecular\u0103 a etiologiei genetice \u00een cardiomiopatia dilatativ\u0103<\/li>\n<li>identificare timpurie a pacien\u021bilor cu risc \u0219i adaptarea managementului cardiologic (monitorizare, ICD, tratamente preventive)<\/li>\n<li>posibilitatea screeningului familial, cu preven\u021bie secundar\u0103 la rude purt\u0103toare<\/li>\n<li>clarificarea prognosticului \u0219i influen\u021barea deciziilor terapeutice<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>un rezultat negativ nu exclude componenta genetic\u0103 \u2014 nu toate genele implicate sunt cunoscute<\/li>\n<li>interpretarea variantelor de semnifica\u021bie incert\u0103 (VUS) poate necesita reevaluare \u00een timp, cosegregare familial\u0103 sau studii func\u021bionale<\/li>\n<li>testul nu include de obicei analiza regiunilor necodante, de reglare genic\u0103 sau epigenetic\u0103<\/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>tip prob\u0103: s\u00e2nge venos \u00een tub EDTA<\/li>\n<li>recoltare standard, f\u0103r\u0103 necesitate de repaus alimentar<\/li>\n<li>consilierea genetic\u0103 pretestare \u0219i informarea privind implica\u021biile familiale sunt recomandate<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>ecocardiografie, RMN cardiac, Holter, test de efort<\/li>\n<li>evaluare genetic\u0103 a rudelor de gradul I dac\u0103 se identific\u0103 muta\u021bie<\/li>\n<li>alte paneluri cardiologice (ex. cardiomiopatie hipertrofic\u0103, cardiomiopatie aritmogen\u0103) dac\u0103 exist\u0103 fenotip<\/li>\n<li>consult genetic post-testare pentru interpretarea rezultatelor \u0219i planificare familial\u0103<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Acest panel este un test genetic molecular complex de tip <em>target exome<\/em> care analizeaz\u0103 un set extins de gene asociate cardiomiopatiei dilatative familiale. Scopul este identificarea muta\u021biilor patogene sau probabil patogene care pot explica apari\u021bia dilat\u0103rii ventriculare, disfunc\u021biei miocardice, aritmiilor \u0219i riscului de moarte subit\u0103 \u00een cadrul familial.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>\u00cen acest panel sunt incluse genele:<\/p>\n<p> ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKRP, FKTN, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL.<\/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-26746","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\/26746","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=26746"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26746"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26746"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26746"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}