{"id":64455,"date":"2024-12-09T13:43:41","date_gmt":"2024-12-09T11:43:41","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=64455"},"modified":"2025-07-01T07:56:18","modified_gmt":"2025-07-01T04:56:18","slug":"profil-genetic-pentru-sindrom-qt-lung","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-sindrom-qt-lung\/","title":{"rendered":"\u0413\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0439 \u043f\u0440\u043e\u0444\u0438\u043b\u044c \u0441\u0438\u043d\u0434\u0440\u043e\u043c\u0430 \u0443\u0434\u043b\u0438\u043d\u0451\u043d\u043d\u043e\u0433\u043e \u0438\u043d\u0442\u0435\u0440\u0432\u0430\u043b\u0430 QT"},"content":{"rendered":"
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Informatii generale Profilul genetic pentru sindrom QT lung:<\/strong><\/p>\n

Sindromul de QT lung este o afec\u021biune cardiac\u0103 heterogen\u0103 din punct de vedere clinic \u0219i genetic. Exist\u0103 diferen\u021be \u00eentre forma frecvent\u0103, cu transmitere autozomal dominant\u0103, Romano-Ward, \u0219i forma foarte rar\u0103, cu transmitere autosomal recesiv\u0103, Jervell-Lange- Nielsen. Identificarea purt\u0103torilor s\u0103n\u0103to\u0219i de variante patogene ofer\u0103 posibilitatea instituirii terapiei presimptomatice. Riscul de producere al evenimentelor cardiace este astfel, redus cu 62-95% pentru sindromul de QT lung de tip 1 \u0219i cu 74% pentru tipul 2. Variante patogene \u00een genele KCNQ1<\/em>, KCNH2 <\/em>\u0438 SCN5A <\/em>sunt detectate \u00een aproximativ 90-95% dintre cazurile de sindrom de QT lung, iar la aproximativ 25% dintre cazurile confirmate clinic cu sindrom de QT lung nu au fost identificate cauze genetice.<\/p>\n

Sindromul de QT lung este caracterizat de prelungirea intervalului QT, fapt ce indic\u0103 prelungirea timpului de repolarizare ventricular\u0103. EKG-ul poate eviden\u021bia un interval QTc cu durata de 460-500 ms. \u00cen func\u021bie de durata acestuia, pot s\u0103 apar\u0103 aritmii, care pot duce la pierderea con\u0219tien\u021bei \u0219i chiar la moarte subit\u0103. Mortalitatea la 10 ani este de 50%, dac\u0103 boala nu este tratat\u0103 la timp. Limita intervalului QTc pentru recomandarea test\u0103rii genetice este: QTc >470 ms pentru b\u0103rba\u021bi, QTc>480 ms pentru femei \u0219i QTc> 460 ms pentru copii.<\/p>\n

11 gene vizate: <\/strong>CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1,\u00a0SCN5A, TRDN<\/p>\n

Pacien\u021bii diagnostica\u021bi cu acest sindrom trebuie s\u0103-\u0219i modifice stilul de via\u021b\u0103 \u0219i s\u0103 evite administrarea de medicamente care cresc intervalul QT \u0219i pot beneficia de tratament cu beta-blocante. Recomandarea unui defibrilator cardiac implantabil este indicat\u0103 la pacien\u021bii care au experimentat sincope recurente refractare, tahicardie ventricular\u0103, un episod de stop cardiac sau la pacien\u021bii cu sindrom de tip 2, cu interval QTc >500 ms.<\/p>\n

Metabolismul sc\u0103zut al medicamentelor, ce poate fi cauzat de variante \u00een genele CYP2D6<\/em>, CYP2C9 <\/em>\u0438\u043b\u0438 CYP2C19<\/em>, poate amplifica acest efect. \u00cen cazul sindromului de QT lung indus de medicamente, analiza genelor ce codific\u0103 citocromul P450 este util\u0103 pentru diagnostic.<\/p>\n\n\n\n\n\n\n
<\/td>\nPREVALEN\u021a\u0102<\/strong><\/td>\nTRANSMITERE<\/strong><\/td>\n<\/tr>\n
SQTL tip 1<\/td>\n1:2500<\/td>\nAutozomal dominant\u0103 \u0219i recesiv\u0103 (RW \u015fi JLN)<\/p>\n<\/td>\n<\/tr>\n
SQTL tip 2<\/td>\nAutozomal dominant\u0103 (RW)<\/td>\n<\/tr>\n
SQTL tip 3<\/td>\nAutozomal dominant\u0103 (RW)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Preg\u0103tire pacient <\/strong>\u2013 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:<\/p>\n

www.medicover-genetics.com<\/a><\/p>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"

\u0421\u0438\u043d\u0434\u0440\u043e\u043c \u0443\u0434\u043b\u0438\u043d\u0435\u043d\u043d\u043e\u0433\u043e \u0438\u043d\u0442\u0435\u0440\u0432\u0430\u043b\u0430 QT (LQTS, OMIM192500) – \u043d\u0430\u0441\u043b\u0435\u0434\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0435 \u0437\u0430\u0431\u043e\u043b\u0435\u0432\u0430\u043d\u0438\u0435, \u0441\u043e\u043f\u0440\u043e\u0432\u043e\u0436\u0434\u0430\u044e\u0449\u0435\u0435\u0441\u044f \u0443\u0434\u043b\u0438\u043d\u0435\u043d\u0438\u0435\u043c \u0438\u043d\u0442\u0435\u0440\u0432\u0430\u043b\u0430 QT \u043d\u0430 \u042d\u041a\u0413 \u043f\u043e\u043a\u043e\u044f (QTc>=460 \u043c\u0441), \u0441\u0438\u043d\u043a\u043e\u043f\u0430\u043b\u044c\u043d\u044b\u043c\u0438 \u0441\u043e\u0441\u0442\u043e\u044f\u043d\u0438\u044f\u043c\u0438 \u0438 \u0432\u044b\u0441\u043e\u043a\u0438\u043c \u0440\u0438\u0441\u043a\u043e\u043c \u0432\u043d\u0435\u0437\u0430\u043f\u043d\u043e\u0439 \u0441\u043c\u0435\u0440\u0442\u0438 \u0432\u0441\u043b\u0435\u0434\u0441\u0442\u0432\u0438\u0435 \u0440\u0430\u0437\u0432\u0438\u0442\u0438\u044f \u043f\u043e\u043b\u0438\u043c\u043e\u0440\u0444\u043d\u043e\u0439 \u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043a\u043e\u0432\u043e\u0439 \u0442\u0430\u0445\u0438\u043a\u0430\u0440\u0434\u0438\u0438.<\/p>\n

\u0421\u0443\u0449\u0435\u0441\u0442\u0432\u0443\u044e\u0442 \u0434\u0432\u0435 \u0435\u0433\u043e \u043a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438\u0435 \u0444\u043e\u0440\u043c\u044b:<\/p>\n