{"id":11025,"date":"2025-08-27T22:29:43","date_gmt":"2025-08-27T19:29:43","guid":{"rendered":"https:\/\/dryavuzbesogul.com\/holt-oram-sendromu\/"},"modified":"2025-08-28T21:03:45","modified_gmt":"2025-08-28T18:03:45","slug":"holt-oram-sendromu","status":"publish","type":"post","link":"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/","title":{"rendered":"Holt Oram Sendromu Belirtileri, Nedenleri ve Tedavisi"},"content":{"rendered":"<p>Holt-Oram sendromu, kalp ve \u00fcst ekstremite kemiklerinde do\u011fu\u015ftan anormalliklerle seyreden nadir bir genetik hastal\u0131kt\u0131r. TBX5 genindeki mutasyon sonucu ortaya \u00e7\u0131kar ve otozomal dominant kal\u0131t\u0131m g\u00f6sterir. S\u0131kl\u0131kla \u201ckalp-el sendromu\u201d olarak da adland\u0131r\u0131l\u0131r.<\/p>\n<p>Belirtiler aras\u0131nda el bile\u011fi kemiklerinde \u015fekil bozukluklar\u0131, parmak eksiklikleri veya k\u0131sal\u0131klar\u0131 bulunur. Kalp taraf\u0131nda ise atriyal septal defekt, ventrik\u00fcler septal defekt ve iletim bozukluklar\u0131 en yayg\u0131n g\u00f6r\u00fclen anomalilerdir.<\/p>\n<p>Hastalar do\u011fumdan itibaren farkl\u0131 derecelerde el-kol malformasyonlar\u0131 g\u00f6sterebilir. Kalp hastal\u0131klar\u0131, erken d\u00f6nemde solunum s\u0131k\u0131nt\u0131s\u0131, \u00e7arp\u0131nt\u0131, yorgunluk veya morarma \u015feklinde belirti verebilir.<\/p>\n<p>Tan\u0131, fizik muayene, radyolojik g\u00f6r\u00fcnt\u00fcleme ve ekokardiyografi ile konur. Tedavi, ortopedik d\u00fczeltmeler ve gerekli durumlarda kalp cerrahisi veya ritim bozuklu\u011fu y\u00f6netimini i\u00e7erir. D\u00fczenli kardiyoloji ve ortopedi takibi, ya\u015fam kalitesini art\u0131rmada \u00f6nemlidir.<\/p>\n<table>\n<tbody>\n<tr>\n<td>T\u0131bbi Ad\u0131<\/td>\n<td>Holt-Oram Sendromu<\/td>\n<\/tr>\n<tr>\n<td>T\u00fcr\u00fc<\/td>\n<td>Genetik sendrom<\/td>\n<\/tr>\n<tr>\n<td>Etkilenen Sistem<\/td>\n<td>Kas-iskelet sistem ve kardiyovask\u00fcler sistem<\/td>\n<\/tr>\n<tr>\n<td>Genetik Nedeni<\/td>\n<td>TBX5 gen mutasyonu (kromozom 12q24.1)<\/td>\n<\/tr>\n<tr>\n<td>Miras Kal\u0131t\u0131m\u0131<\/td>\n<td>Otozomal dominant<\/td>\n<\/tr>\n<tr>\n<td>Belirtiler<\/td>\n<td>Kol ve el kemiklerinde (\u00f6zellikle ba\u015fparmak) anormallikler; atriyal septal defekt (ASD), ventrik\u00fcler septal defekt (VSD), iletim bozukluklar\u0131<\/td>\n<\/tr>\n<tr>\n<td>Tan\u0131 Y\u00f6ntemleri<\/td>\n<td>Klinik de\u011ferlendirme, iskelet r\u00f6ntgeni, EKO, EKG, genetik testler<\/td>\n<\/tr>\n<tr>\n<td>Tedavi Y\u00f6ntemleri<\/td>\n<td>Kalp anomalileri i\u00e7in cerrahi veya medikal tedavi; ortopedik d\u00fczeltmeler, fizik tedavi<\/td>\n<\/tr>\n<tr>\n<td>Komplikasyonlar<\/td>\n<td>Kalp yetmezli\u011fi, aritmi, fiziksel k\u0131s\u0131tl\u0131l\u0131k<\/td>\n<\/tr>\n<tr>\n<td>\u0130zlem<\/td>\n<td>Multidisipliner takip: kardiyoloji, ortopedi, genetik dan\u0131\u015fmanl\u0131k; d\u00fczenli EKO ve EKG takibi<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Yaz\u0131 \u0130\u00e7eri\u011fi<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #ffffff;color:#ffffff\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #ffffff;color:#ffffff\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt_Oram_Sendromu_Nedir\" >Holt Oram Sendromu Nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_ilk_olarak_nasil_ve_ne_zaman_fark_edildi\" >Holt-Oram Sendromu ilk olarak nas\u0131l ve ne zaman fark edildi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_toplumda_ne_kadar_yaygindir\" >Holt-Oram Sendromu toplumda ne kadar yayg\u0131nd\u0131r?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromuna_yol_acan_genetik_sebep_nedir\" >Holt-Oram Sendromu&#8217;na yol a\u00e7an genetik sebep nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_aileden_cocuga_gecer_mi\" >Holt-Oram Sendromu aileden \u00e7ocu\u011fa ge\u00e7er mi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_neden_ayni_ailenin_uyelerinde_bile_farkli_siddette_gorulur\" >Holt-Oram Sendromu neden ayn\u0131 ailenin \u00fcyelerinde bile farkl\u0131 \u015fiddette g\u00f6r\u00fcl\u00fcr?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromunda_gorulen_tipik_ust_ekstremite_kol_ve_el_anormallikleri_nelerdir\" >Holt-Oram Sendromu&#8217;nda g\u00f6r\u00fclen tipik \u00fcst ekstremite (kol ve el) anormallikleri nelerdir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromunda_en_sik_gorulen_kalp_defektleri_nelerdir\" >Holt-Oram Sendromu&#8217;nda en s\u0131k g\u00f6r\u00fclen kalp defektleri nelerdir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromunda_gorulen_kalp_iletim_sistemi_hastaliklari_nelerdir\" >Holt-Oram Sendromu&#8217;nda g\u00f6r\u00fclen kalp iletim sistemi hastal\u0131klar\u0131 nelerdir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_tanisi_nasil_konulur\" >Holt-Oram Sendromu tan\u0131s\u0131 nas\u0131l konulur?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_tanisinda_hangi_goruntuleme_yontemleri_kullanilir\" >Holt-Oram Sendromu tan\u0131s\u0131nda hangi g\u00f6r\u00fcnt\u00fcleme y\u00f6ntemleri kullan\u0131l\u0131r?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_hangi_hastaliklarla_karistirilabilir\" >Holt-Oram Sendromu hangi hastal\u0131klarla kar\u0131\u015ft\u0131r\u0131labilir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromunun_genel_yonetimi_nasil_yapilir\" >Holt-Oram Sendromu&#8217;nun genel y\u00f6netimi nas\u0131l yap\u0131l\u0131r?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromunda_kalp_problemleri_nasil_tedavi_edilir\" >Holt-Oram Sendromu&#8217;nda kalp problemleri nas\u0131l tedavi edilir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromunda_kol_ve_el_anormallikleri_icin_hangi_tedaviler_uygulanir\" >Holt-Oram Sendromu&#8217;nda kol ve el anormallikleri i\u00e7in hangi tedaviler uygulan\u0131r?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromlu_bireyler_icin_uzun_donemli_beklenti_prognoz_nedir\" >Holt-Oram Sendromlu bireyler i\u00e7in uzun d\u00f6nemli beklenti (prognoz) nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_icin_genetik_danismanligin_onemi_ve_tekrarlama_riski_nedir\" >Holt-Oram Sendromu i\u00e7in genetik dan\u0131\u015fmanl\u0131\u011f\u0131n \u00f6nemi ve tekrarlama riski nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Sikca_Sorulan_Sorular\" >S\u0131k\u00e7a Sorulan Sorular<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_nedir\" >Holt-Oram Sendromu nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Hangi_gen_Holt-Oram_Sendromuna_neden_olur\" >Hangi gen Holt-Oram Sendromu\u2019na neden olur?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Belirtileri_nelerdir\" >Belirtileri nelerdir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Kalp_hastaliklari_ne_siklikla_gorulur\" >Kalp hastal\u0131klar\u0131 ne s\u0131kl\u0131kla g\u00f6r\u00fcl\u00fcr?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Sendrom_nasil_teshis_edilir\" >Sendrom nas\u0131l te\u015fhis edilir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_kalitsal_midir\" >Holt-Oram Sendromu kal\u0131tsal m\u0131d\u0131r?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Sendromun_baska_adi_var_mi\" >Sendromun ba\u015fka ad\u0131 var m\u0131?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Hangi_uzmana_basvurmak_gerekir\" >Hangi uzmana ba\u015fvurmak gerekir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#El-kol_anomalileri_cerrahi_olarak_duzeltilebilir_mi\" >El-kol anomalileri cerrahi olarak d\u00fczeltilebilir mi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Kalp_hastaliklari_ameliyatla_tedavi_edilir_mi\" >Kalp hastal\u0131klar\u0131 ameliyatla tedavi edilir mi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Cocuklarda_ne_zaman_fark_edilir\" >\u00c7ocuklarda ne zaman fark edilir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Sendromun_siddeti_bireyden_bireye_degisir_mi\" >Sendromun \u015fiddeti bireyden bireye de\u011fi\u015fir mi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Gebelikte_tanisi_konulabilir_mi\" >Gebelikte tan\u0131s\u0131 konulabilir mi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Bu_sendrom_hayati_tehdit_eder_mi\" >Bu sendrom hayat\u0131 tehdit eder mi?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/dryavuzbesogul.com\/en\/holt-oram-sendromu\/#Holt-Oram_Sendromu_olan_cocuklar_normal_egitim_alabilir_mi\" >Holt-Oram Sendromu olan \u00e7ocuklar normal e\u011fitim alabilir mi?<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"Holt_Oram_Sendromu_Nedir\"><\/span>Holt Oram Sendromu Nedir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromu, do\u011fu\u015ftan gelen ve <strong>kalp ile \u00fcst ekstremite (kol-el) geli\u015fimini<\/strong> etkileyen genetik bir hastal\u0131kt\u0131r. &#8220;Kalp-el sendromu&#8221; olarak da bilinir. Hastalarda atriyal veya ventrik\u00fcler septal defekt gibi do\u011fumsal kalp delikleri, ritim bozukluklar\u0131 g\u00f6r\u00fclebilir. Ayr\u0131ca ellerde ba\u015fparmak anomalileri, kol k\u0131sal\u0131\u011f\u0131 veya \u015fekil bozukluklar\u0131 s\u0131k rastlanan bulgulard\u0131r. Tan\u0131 genetik testler ve g\u00f6r\u00fcnt\u00fcleme y\u00f6ntemleri ile konur. Tedavi, kalp cerrahisi, ortopedik m\u00fcdahaleler ve d\u00fczenli takiplerle yap\u0131l\u0131r.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_ilk_olarak_nasil_ve_ne_zaman_fark_edildi\"><\/span>Holt-Oram Sendromu ilk olarak nas\u0131l ve ne zaman fark edildi?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromu (HOS), iskelet sistemi ile kalp ve damar sistemini birlikte etkileyen karma\u015f\u0131k bir genetik yolculuktur. Bu sendromun en bilinen y\u00fcz\u00fc, kollarda ve ellerde, \u00f6zellikle ba\u015fparmak ve \u00f6nkol kemiklerinde g\u00f6r\u00fclen geli\u015fimsel farkl\u0131l\u0131klar ile do\u011fu\u015ftan gelen kalp rahats\u0131zl\u0131klar\u0131n\u0131n bir arada bulunmas\u0131d\u0131r. T\u0131p literat\u00fcr\u00fcnde bu duruma atriyo-dijital displazi veya kalp-el sendromu tip 1 gibi farkl\u0131 isimler de verilmi\u015ftir.<\/p>\n<p>Bu sendromun t\u0131p d\u00fcnyas\u0131 taraf\u0131ndan tan\u0131nmas\u0131 1960 y\u0131l\u0131na dayan\u0131r. O y\u0131l, \u0130ngiliz hekimler Dr. Mary Holt ve Dr. Samuel Oram, dikkat \u00e7ekici bir g\u00f6zlem yapt\u0131lar. D\u00f6rt nesil boyunca ayn\u0131 aileyi incelediklerinde, aile \u00fcyelerinin bir\u00e7o\u011funda hem ba\u015fparmak anormallikleri hem de kalbin \u00fcst odac\u0131klar\u0131 aras\u0131nda bir delik (atriyal septal defekt &#8211; ASD) bulundu\u011funu fark ettiler. Bu \u00f6nc\u00fc \u00e7al\u0131\u015fma, belirli iskelet ve kalp kusurlar\u0131 aras\u0131nda kal\u0131tsal bir ba\u011f oldu\u011funu bilimsel olarak g\u00f6steren ilk \u00e7al\u0131\u015fmalardan biri oldu. Sendrom, bu iki de\u011ferli ara\u015ft\u0131rmac\u0131n\u0131n an\u0131s\u0131na &#8220;Holt-Oram&#8221; olarak isimlendirildi.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_toplumda_ne_kadar_yaygindir\"><\/span>Holt-Oram Sendromu toplumda ne kadar yayg\u0131nd\u0131r?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromu, olduk\u00e7a nadir g\u00f6r\u00fclen bir durumdur. Yap\u0131lan ara\u015ft\u0131rmalar, bu sendromun yakla\u015f\u0131k olarak her 100.000 canl\u0131 do\u011fumdan birinde ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 g\u00f6stermektedir. Bu oran co\u011frafi b\u00f6lgelere ve \u00e7al\u0131\u015f\u0131lan topluluklara g\u00f6re \u00e7ok k\u00fc\u00e7\u00fck farkl\u0131l\u0131klar g\u00f6sterebilse de genel kan\u0131, HOS&#8217;un nadir bir hastal\u0131k oldu\u011fu y\u00f6n\u00fcndedir. Irk, etnik k\u00f6ken veya cinsiyet fark\u0131 g\u00f6zetmeksizin d\u00fcnyan\u0131n her yerinde ve herkeste g\u00f6r\u00fclebilir.<\/p>\n<p>Bu nadirlik hem hastalar hem de sa\u011fl\u0131k profesyonelleri i\u00e7in baz\u0131 zorluklar\u0131 beraberinde getirir. Belirtilerin \u00e7ok hafif oldu\u011fu, \u00f6rne\u011fin sadece bir r\u00f6ntgen filminde fark edilebilecek k\u00fc\u00e7\u00fck bir el bile\u011fi kemi\u011fi anormalli\u011fi gibi durumlarda, HOS tan\u0131s\u0131 hemen akla gelmeyebilir. Bu durum ne yaz\u0131k ki hastalar\u0131n do\u011fru tan\u0131ya ula\u015fmas\u0131n\u0131 geciktirebilir ve bu s\u00fcre\u00e7te aileler i\u00e7in ciddi bir belirsizlik ve endi\u015fe kayna\u011f\u0131 olabilir. Nadir bir hastal\u0131\u011fa sahip olmak, etkilenen ki\u015filerin ve ailelerinin kendileriyle benzer deneyimleri ya\u015fayan ba\u015fkalar\u0131n\u0131 bulmas\u0131n\u0131 da zorla\u015ft\u0131r\u0131r, bu da bir sosyal izolasyon hissine neden olabilir. \u0130\u015fte bu noktada bu alanda uzmanla\u015fm\u0131\u015f sa\u011fl\u0131k merkezlerinin ve hasta destek gruplar\u0131n\u0131n \u00f6nemi ortaya \u00e7\u0131kmaktad\u0131r.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromuna_yol_acan_genetik_sebep_nedir\"><\/span>Holt-Oram Sendromu&#8217;na yol a\u00e7an genetik sebep nedir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromunun arkas\u0131ndaki temel neden, genetik \u015fifremizde bulunan tek bir gendeki de\u011fi\u015fikliktir. Bu gen, 12. kromozomumuzda yer alan ve TBX5 olarak adland\u0131r\u0131lan bir gendir. Genleri, v\u00fccudumuzun protein denilen yap\u0131 ta\u015flar\u0131n\u0131 \u00fcretmek i\u00e7in kulland\u0131\u011f\u0131 birer talimat kitap\u00e7\u0131\u011f\u0131 gibi d\u00fc\u015f\u00fcnebilirsiniz. TBX5 geni de T-box 5 adl\u0131 \u00e7ok \u00f6nemli bir proteinin \u00fcretilmesini sa\u011flar. Bu protein, bir &#8220;transkripsiyon fakt\u00f6r\u00fc&#8221;d\u00fcr; yani bir orkestra \u015fefi gibi di\u011fer genlerin ne zaman ve ne kadar \u00e7al\u0131\u015faca\u011f\u0131n\u0131 d\u00fczenler.<\/p>\n<p>T-box 5 proteini, bir bebe\u011fin anne karn\u0131ndaki geli\u015fimi s\u0131ras\u0131nda \u00f6zellikle iki kritik alanda hayati g\u00f6revler \u00fcstlenir:<\/p>\n<ul>\n<li aria-level=\"1\">Kalp geli\u015fimi<\/li>\n<li aria-level=\"1\">\u00dcst uzuvlar\u0131n (kollar ve eller) geli\u015fimi<\/li>\n<\/ul>\n<p>Kalbin basit bir t\u00fcp yap\u0131s\u0131ndan d\u00f6rt odac\u0131kl\u0131 karma\u015f\u0131k bir organa d\u00f6n\u00fc\u015fmesi ve odac\u0131klar\u0131 ay\u0131ran duvarlar\u0131n (septum) olu\u015fmas\u0131 s\u00fcrecinde bu protein ba\u015froldedir. Ayn\u0131 zamanda, kol ve el kemiklerimizin do\u011fru \u015fekilde olu\u015fup \u015fekillenmesini de y\u00f6netir. TBX5 geninde bir hata, yani mutasyon oldu\u011funda, bu \u00f6nemli protein ya hi\u00e7 \u00fcretilemez ya da hatal\u0131 \u00fcretildi\u011fi i\u00e7in g\u00f6revini yapamaz. Sonu\u00e7 olarak T-box 5 proteininin y\u00f6netmesi gereken kalp ve uzuv geli\u015fim s\u00fcre\u00e7leri aksar ve Holt-Oram sendromunun tipik belirtileri ortaya \u00e7\u0131kar.<\/p>\n<p>Klinik olarak HOS tan\u0131s\u0131 konan ki\u015filerin yakla\u015f\u0131k %70-85&#8217;inde genetik testlerle bu TBX5 mutasyonu tespit edilebilir. Geriye kalan k\u00fc\u00e7\u00fck bir grupta ise standart testlerle bir mutasyon bulunamayabilir. Bu durum genin hen\u00fcz anla\u015f\u0131lamayan di\u011fer b\u00f6lgelerindeki de\u011fi\u015fikliklerden veya TBX5 ile etkile\u015fime giren ba\u015fka genlerden kaynaklanabilir. Bu nedenle genetik test sonucu negatif \u00e7\u0131ksa bile, e\u011fer klinik bulgular kuvvetle HOS&#8217;u i\u015faret ediyorsa tan\u0131 d\u0131\u015flanmaz. Tan\u0131 her zaman \u00f6ncelikle hastan\u0131n muayene bulgular\u0131na dayan\u0131r.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_aileden_cocuga_gecer_mi\"><\/span>Holt-Oram Sendromu aileden \u00e7ocu\u011fa ge\u00e7er mi?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Evet, Holt-Oram sendromu ailevi ge\u00e7i\u015f g\u00f6sterebilen bir durumdur ve &#8220;otozomal dominant&#8221; ad\u0131 verilen bir kal\u0131t\u0131m modeliyle aktar\u0131l\u0131r. Bu terimleri basit\u00e7e a\u00e7\u0131klayal\u0131m.<\/p>\n<ul>\n<li>Otozomal: Sorumlu genin cinsiyet kromozomlar\u0131nda (X ve Y) de\u011fil di\u011fer 22 kromozom \u00e7iftinden birinde oldu\u011funu ifade eder.<\/li>\n<li>Dominant: Hastal\u0131\u011f\u0131n ortaya \u00e7\u0131kmas\u0131 i\u00e7in, anneden veya babadan gelen gen kopyalar\u0131ndan sadece birinin mutasyonlu olmas\u0131n\u0131n yeterli oldu\u011fu anlam\u0131na gelir.<\/li>\n<\/ul>\n<p>Bu kal\u0131t\u0131m modeline g\u00f6re, Holt-Oram sendromlu bir bireyin her hamileli\u011finde, bu durumu \u00e7ocu\u011funa ge\u00e7irme olas\u0131l\u0131\u011f\u0131 %50&#8217;dir. Bu risk, her hamilelik i\u00e7in ayn\u0131d\u0131r ve \u00e7ocu\u011fun cinsiyetine ba\u011fl\u0131 de\u011fildir.<\/p>\n<p>Ancak burada \u00e7ok \u00f6nemli bir nokta var: HOS vakalar\u0131n\u0131n b\u00fcy\u00fck bir k\u0131sm\u0131, yakla\u015f\u0131k %85&#8217;i, ailede daha \u00f6nce hi\u00e7 b\u00f6yle bir durum olmamas\u0131na ra\u011fmen ortaya \u00e7\u0131kar. Buna &#8220;de novo&#8221; yani &#8220;yeni&#8221; mutasyon diyoruz. Bu genetik de\u011fi\u015fikli\u011fin anne veya baban\u0131n kendisinde bulunmad\u0131\u011f\u0131, ancak onlar\u0131n sperm veya yumurta h\u00fccrelerinde tesad\u00fcfen meydana geldi\u011fi veya d\u00f6llenmeden hemen sonraki erken geli\u015fim a\u015famas\u0131nda olu\u015ftu\u011fu anlam\u0131na gelir. Bu durumda \u00e7ocuk HOS&#8217;a sahip olurken, ebeveynler sa\u011fl\u0131kl\u0131d\u0131r. Fakat de novo bir mutasyonla etkilenen bu \u00e7ocuk, yeti\u015fkin oldu\u011funda kendi \u00e7ocuklar\u0131na sendromu %50 ihtimalle aktarma riski ta\u015f\u0131yacakt\u0131r.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_neden_ayni_ailenin_uyelerinde_bile_farkli_siddette_gorulur\"><\/span>Holt-Oram Sendromu neden ayn\u0131 ailenin \u00fcyelerinde bile farkl\u0131 \u015fiddette g\u00f6r\u00fcl\u00fcr?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Bu sorunun cevab\u0131, geneti\u011fin iki \u00f6nemli kavram\u0131nda yatmaktad\u0131r: &#8220;de\u011fi\u015fken ekspresivite&#8221; ve &#8220;eksik penetrans&#8221;. Bu kavramlar, ayn\u0131 TBX5 gen mutasyonuna sahip olsalar bile, insanlar\u0131n hastal\u0131\u011f\u0131 neden \u00e7ok farkl\u0131 \u015fekillerde deneyimledi\u011fini a\u00e7\u0131klar.<\/p>\n<ul>\n<li>De\u011fi\u015fken Ekspresivite: Bu ayn\u0131 genetik mutasyonu ta\u015f\u0131yan ki\u015filer aras\u0131nda bile sendromun belirtilerinin ve \u015fiddetinin b\u00fcy\u00fck \u00f6l\u00e7\u00fcde farkl\u0131l\u0131k g\u00f6sterebilece\u011fi anlam\u0131na gelir. \u00d6rne\u011fin bir baba sadece r\u00f6ntgende g\u00f6r\u00fclebilen \u00e7ok hafif bir el bile\u011fi anormalli\u011fi ile hayat\u0131n\u0131 s\u00fcrd\u00fcr\u00fcrken, ayn\u0131 mutasyonu ta\u015f\u0131yan \u00e7ocu\u011fu bir kolunun hi\u00e7 geli\u015fmemesi (fokomeli) ve acil ameliyat gerektiren ciddi bir kalp kusuru ile do\u011fabilir. Bu durum genetik test sonucunun, hastal\u0131\u011f\u0131n ne kadar a\u011f\u0131r seyredece\u011fini tek ba\u015f\u0131na tahmin edemeyece\u011fini g\u00f6sterir.<\/li>\n<li>Eksik Penetrans: Bu ise, bir gen mutasyonunu ta\u015f\u0131yan herkesin hastal\u0131\u011f\u0131n t\u00fcm belirtilerini g\u00f6stermemesi durumudur. Holt-Oram sendromunda \u00fcst uzuv anormallikleri i\u00e7in &#8220;tam penetrans&#8221; s\u00f6z konusudur. Yani TBX5 mutasyonu ta\u015f\u0131yan her bireyde, ne kadar hafif olursa olsun mutlaka bir t\u00fcr kol veya el anormalli\u011fi bulunur. Ancak kalp kusurlar\u0131 i\u00e7in durum farkl\u0131d\u0131r; penetrans yakla\u015f\u0131k %75&#8217;tir. Bu da mutasyonu ta\u015f\u0131yan ki\u015filerin yakla\u015f\u0131k %25&#8217;inde herhangi bir yap\u0131sal kalp kusuru g\u00f6r\u00fclmeyebilece\u011fi anlam\u0131na gelir.<\/li>\n<\/ul>\n<p>Bu iki kavram, genetik dan\u0131\u015fmanl\u0131k s\u0131ras\u0131nda ailelerin en \u00e7ok zorland\u0131\u011f\u0131 konulard\u0131r. Bir ebeveynin hastal\u0131\u011f\u0131 hafif ge\u00e7iriyor olmas\u0131, \u00e7ocu\u011funun da hafif ge\u00e7irece\u011finin bir garantisi de\u011fildir. Bu belirsizlik, aile planlamas\u0131 s\u00fcrecinde \u00f6nemli bir endi\u015fe kayna\u011f\u0131 olabilir.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromunda_gorulen_tipik_ust_ekstremite_kol_ve_el_anormallikleri_nelerdir\"><\/span>Holt-Oram Sendromu&#8217;nda g\u00f6r\u00fclen tipik \u00fcst ekstremite (kol ve el) anormallikleri nelerdir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromunun belki de en g\u00f6ze \u00e7arpan ve tutarl\u0131 \u00f6zelli\u011fi, \u00fcst uzuvlarda, yani kol ve ellerde g\u00f6r\u00fclen iskelet sistemi farkl\u0131l\u0131klar\u0131d\u0131r. Bu durum her hastada farkl\u0131 bir \u015fiddette ve \u015fekilde kendini g\u00f6sterebilir. Anormallikler genellikle v\u00fccudun ba\u015fparmak taraf\u0131nda (radial taraf) yo\u011funla\u015f\u0131r ve s\u0131kl\u0131kla asimetriktir; yani sol kol, sa\u011f koldan daha farkl\u0131 veya daha \u015fiddetli etkilenebilir.<\/p>\n<p>En s\u0131k kar\u015f\u0131la\u015f\u0131lan iskelet sistemi bulgular\u0131 \u015funlard\u0131r:<\/p>\n<ul>\n<li aria-level=\"1\">El bile\u011fi kemiklerinde anormallik (en tutarl\u0131 bulgudur)<\/li>\n<li aria-level=\"1\">Fazladan el bile\u011fi kemi\u011fi<\/li>\n<li aria-level=\"1\">Kaynam\u0131\u015f el bile\u011fi kemikleri<\/li>\n<li aria-level=\"1\">\u00dc\u00e7 bo\u011fumlu ba\u015fparmak (trifalangeal)<\/li>\n<li aria-level=\"1\">Parmak benzeri g\u00f6r\u00fcn\u00fcml\u00fc ba\u015fparmak<\/li>\n<li aria-level=\"1\">Ba\u015fparma\u011f\u0131n olmamas\u0131 (aplazi)<\/li>\n<li aria-level=\"1\">Ba\u015fparma\u011f\u0131n k\u00fc\u00e7\u00fck olmas\u0131 (hipoplazi)<\/li>\n<li aria-level=\"1\">\u00d6n kolun i\u00e7e d\u00f6n\u00fck durmas\u0131 (clubhand)<\/li>\n<li aria-level=\"1\">Radius kemi\u011finin olmamas\u0131 veya k\u0131sa olmas\u0131<\/li>\n<li aria-level=\"1\">\u00d6n kolu d\u00f6nd\u00fcrme hareketlerinde k\u0131s\u0131tl\u0131l\u0131k<\/li>\n<li aria-level=\"1\">Elin do\u011frudan omuza ba\u011fl\u0131 gibi g\u00f6r\u00fcnmesi (fokomeli)<\/li>\n<li aria-level=\"1\">D\u00fc\u015f\u00fck ve e\u011fimli omuz yap\u0131s\u0131<\/li>\n<li aria-level=\"1\">K\u00f6pr\u00fcc\u00fck veya k\u00fcrek kemi\u011finde geli\u015fim bozukluklar\u0131<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromunda_en_sik_gorulen_kalp_defektleri_nelerdir\"><\/span>Holt-Oram Sendromu&#8217;nda en s\u0131k g\u00f6r\u00fclen kalp defektleri nelerdir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromlu bireylerin yakla\u015f\u0131k d\u00f6rtte \u00fc\u00e7\u00fcnde do\u011fu\u015ftan gelen yap\u0131sal bir kalp kusuru bulunur. Bu kusurlar, sendromla ili\u015fkili sa\u011fl\u0131k sorunlar\u0131n\u0131 ve ya\u015fam beklentisini belirleyen en \u00f6nemli fakt\u00f6rlerdir. En s\u0131k kar\u015f\u0131la\u015f\u0131lan kalp sorunlar\u0131, kalbin odac\u0131klar\u0131n\u0131 ay\u0131ran duvarlardaki (septum) a\u00e7\u0131kl\u0131klard\u0131r.<\/p>\n<p>En s\u0131k g\u00f6r\u00fclen kalp defektleri \u015funlar\u0131 i\u00e7erir:<\/p>\n<ul>\n<li>Atriyal Septal Defekt (ASD): Bu HOS&#8217;taki en yayg\u0131n kalp anomalisidir. Kalbin &#8220;kulak\u00e7\u0131k&#8221; olarak bilinen \u00fcst iki odac\u0131\u011f\u0131 aras\u0131ndaki duvarda bir delik olmas\u0131 durumudur. Bu delik, temiz kan\u0131n bir k\u0131sm\u0131n\u0131n akci\u011ferlere tekrar geri ka\u00e7mas\u0131na neden olarak zamanla kalbin sa\u011f taraf\u0131n\u0131 ve akci\u011fer damarlar\u0131n\u0131 yorar.<\/li>\n<li>Ventrik\u00fcler Septal Defekt (VSD): Kalbin &#8220;kar\u0131nc\u0131k&#8221; olarak bilinen alt iki odac\u0131\u011f\u0131 aras\u0131ndaki duvarda bir delik olmas\u0131d\u0131r. ASD gibi, VSD de kalbe ve akci\u011ferlere ekstra y\u00fck bindirir.<\/li>\n<\/ul>\n<p>Bu iki sorun tek ba\u015f\u0131na veya birlikte bulunabilir. Daha nadir olarak HOS&#8217;lu bireylerde ba\u015fka kalp sorunlar\u0131 da g\u00f6r\u00fclebilir:<\/p>\n<ul>\n<li aria-level=\"1\">Bik\u00fcspit aort kapa\u011f\u0131<\/li>\n<li aria-level=\"1\">Patent duktus arteriyozus<\/li>\n<li aria-level=\"1\">Pulmoner darl\u0131k<\/li>\n<li aria-level=\"1\">Sol ventrik\u00fcl non-kompaksiyonu<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromunda_gorulen_kalp_iletim_sistemi_hastaliklari_nelerdir\"><\/span>Holt-Oram Sendromu&#8217;nda g\u00f6r\u00fclen kalp iletim sistemi hastal\u0131klar\u0131 nelerdir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Kalbin d\u00fczenli atmas\u0131n\u0131 sa\u011flayan \u00f6zel bir elektriksel a\u011f\u0131 vard\u0131r. Holt-Oram sendromu, bu &#8220;iletim sistemi&#8221; \u00fczerinde de sorunlara yol a\u00e7abilir. Bu elektriksel sorunlar, kalpte yap\u0131sal bir kusur olsa da olmasa da ortaya \u00e7\u0131kabilir ve zamanla ilerleme potansiyeline sahiptir. Bu ilerleyici do\u011fa, HOS y\u00f6netiminde \u00f6m\u00fcr boyu kardiyolojik takibin neden bu kadar \u00f6nemli oldu\u011funu g\u00f6sterir.<\/p>\n<p>En s\u0131k g\u00f6r\u00fclen kalp ritim ve iletim bozukluklar\u0131 a\u015fa\u011f\u0131daki gibidir:<\/p>\n<ul>\n<li>Sin\u00fcs Bradikardisi: Kalp at\u0131\u015f h\u0131z\u0131n\u0131n normalden yava\u015f olmas\u0131d\u0131r.<\/li>\n<li>Atriyoventrik\u00fcler (AV) Blok: Kalbin \u00fcst ve alt odac\u0131klar\u0131 aras\u0131ndaki elektriksel sinyal ge\u00e7i\u015finde bir yava\u015flama veya tam bir kesinti olmas\u0131d\u0131r. Zamanla ilerleyebilir ve kalp pili gerektirebilir.<\/li>\n<li>Atriyal Fibrilasyon (AF): Kalbin \u00fcst odac\u0131klar\u0131n\u0131n h\u0131zl\u0131 ve d\u00fczensiz bir \u015fekilde kas\u0131lmas\u0131d\u0131r. Bu durum inme riskini art\u0131rabilir.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_tanisi_nasil_konulur\"><\/span>Holt-Oram Sendromu tan\u0131s\u0131 nas\u0131l konulur?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromu tan\u0131s\u0131 tek bir teste de\u011fil bir dizi bulgunun bir araya getirilmesine dayan\u0131r. Bu bir bulmacan\u0131n par\u00e7alar\u0131n\u0131 birle\u015ftirmeye benzer ve genellikle belirli ad\u0131mlar\u0131 izleyen b\u00fct\u00fcnc\u00fcl bir s\u00fcre\u00e7tir.<\/p>\n<p>Tan\u0131 s\u00fcrecindeki temel ad\u0131mlar \u015funlard\u0131r:<\/p>\n<ul>\n<li>Klinik \u015e\u00fcphe ve Fizik Muayene: S\u00fcre\u00e7 genellikle bir hekimin, hastada tipik kol\/el anormalliklerini fark etmesiyle ba\u015flar.<\/li>\n<li>Detayl\u0131 Aile \u00d6yk\u00fcs\u00fc: Ailede benzer kol\/el sorunlar\u0131 veya do\u011fu\u015ftan kalp hastal\u0131\u011f\u0131 olan ba\u015fka bireylerin olup olmad\u0131\u011f\u0131 sorgulan\u0131r. Ancak vakalar\u0131n \u00e7o\u011funun ailede ilk kez g\u00f6r\u00fcld\u00fc\u011f\u00fc unutulmamal\u0131d\u0131r.<\/li>\n<li>G\u00f6r\u00fcnt\u00fcleme ve Testler: \u015e\u00fcpheyi do\u011frulamak ve sorunun derecesini anlamak i\u00e7in \u00e7e\u015fitli testler yap\u0131l\u0131r.<\/li>\n<li>Genetik Do\u011frulama: Klinik bulgular HOS&#8217;u g\u00fc\u00e7l\u00fc bir \u015fekilde destekledi\u011finde, tan\u0131 bir kan \u00f6rne\u011finden yap\u0131lan TBX5 gen analizi ile kesinle\u015ftirilir.<\/li>\n<li>Do\u011fum \u00d6ncesi (Antenatal) Tan\u0131: Ailede bilinen bir mutasyon varsa, gebelik s\u0131ras\u0131nda da tan\u0131 konulmas\u0131 m\u00fcmk\u00fcnd\u00fcr.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_tanisinda_hangi_goruntuleme_yontemleri_kullanilir\"><\/span>Holt-Oram Sendromu tan\u0131s\u0131nda hangi g\u00f6r\u00fcnt\u00fcleme y\u00f6ntemleri kullan\u0131l\u0131r?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Tan\u0131 s\u00fcrecinde, sendromun iskelet ve kalp sistemleri \u00fczerindeki etkilerini net bir \u015fekilde g\u00f6rmek ve belgelemek i\u00e7in \u00e7e\u015fitli testler standart olarak uygulan\u0131r.<\/p>\n<p>\u0130skelet sistemini de\u011ferlendirmek i\u00e7in en temel y\u00f6ntem \u015fudur:<\/p>\n<ul>\n<li>R\u00f6ntgen (X-ray): El, bilek, \u00f6nkol ve omuz kemiklerindeki anormallikleri, \u00f6zellikle de sadece filmde g\u00f6r\u00fclebilen k\u00fc\u00e7\u00fck el bile\u011fi kemi\u011fi farkl\u0131l\u0131klar\u0131n\u0131 saptamak i\u00e7in vazge\u00e7ilmezdir.<\/li>\n<li>Kalp ve damar sistemini de\u011ferlendirmek i\u00e7in kullan\u0131lan temel testler ise \u015funlard\u0131r:<\/li>\n<li>Ekokardiyografi (EKO): Kalbin ultrasonudur. ASD veya VSD gibi yap\u0131sal kusurlar\u0131n varl\u0131\u011f\u0131n\u0131, boyutunu ve kalbin pompalama fonksiyonunu de\u011ferlendirmek i\u00e7in merkezi bir rol oynar.<\/li>\n<li>Elektrokardiyografi (EKG): Kalbin elektriksel aktivitesini kaydeder. Ritim ve iletim bozukluklar\u0131n\u0131 (bradikardi, AV blok gibi) tespit etmek i\u00e7in kullan\u0131l\u0131r.<\/li>\n<li>\u0130leri G\u00f6r\u00fcnt\u00fcleme (MR\/BT): Karma\u015f\u0131k kalp anomalilerini daha detayl\u0131 incelemek gerekti\u011finde manyetik rezonans (MR) veya bilgisayarl\u0131 tomografiye (BT) ba\u015fvurulabilir.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_hangi_hastaliklarla_karistirilabilir\"><\/span>Holt-Oram Sendromu hangi hastal\u0131klarla kar\u0131\u015ft\u0131r\u0131labilir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromunun belirtileri, ba\u015fka bir\u00e7ok nadir sendromla ortak \u00f6zellikler g\u00f6sterebilir. Do\u011fru tan\u0131, hastan\u0131n do\u011fru tedaviyi almas\u0131 ve aileye do\u011fru genetik bilginin verilmesi i\u00e7in kritik \u00f6neme sahiptir. Bu nedenle ay\u0131r\u0131c\u0131 tan\u0131, bu alanda deneyimli genetik, kardiyoloji ve ortopedi uzmanlar\u0131n\u0131n birlikte \u00e7al\u0131\u015fmas\u0131n\u0131 gerektirir.<\/p>\n<table>\n<tbody>\n<tr>\n<td>Sendrom\/Durum<\/td>\n<td>Ay\u0131rt Edici \u00d6zellik<\/td>\n<\/tr>\n<tr>\n<td>Trombositopeni-Absent Radius<br \/>\n(TAR) Sendromu<\/td>\n<td>\u0130ki tarafl\u0131 radius kemi\u011fi yoktur ancak ba\u015fparmaklar mevcuttur. D\u00fc\u015f\u00fck trombosit say\u0131s\u0131 ve kanama riski vard\u0131r.<\/td>\n<\/tr>\n<tr>\n<td>VACTERL Birli\u011fi<\/td>\n<td>Kalp ve uzuv anomalilerine ek olarak omurga, anal, soluk borusu-yemek borusu ve b\u00f6brek anomalileri de bulunur.<\/td>\n<\/tr>\n<tr>\n<td>Duane-Radial Ray Sendromu<\/td>\n<td>HOS&#8217;a \u00e7ok benzer kol anomalileri vard\u0131r ancak ek olarak g\u00f6z hareket bozuklu\u011fu (Duane anomalisi), b\u00f6brek ve i\u015fitme sorunlar\u0131 da g\u00f6r\u00fclebilir.<\/td>\n<\/tr>\n<tr>\n<td>Fanconi Anemisi<\/td>\n<td>Kol anomalilerine ek olarak kemik ili\u011fi yetmezli\u011fi (aplastik anemi) ve kansere yatk\u0131nl\u0131k gibi \u00e7ok ciddi durumlar e\u015flik eder.<\/td>\n<\/tr>\n<tr>\n<td>Teratojenik Maruziyet<\/td>\n<td>Gebelik s\u0131ras\u0131nda talidomid veya valproat gibi baz\u0131 ila\u00e7lara maruz kalma \u00f6yk\u00fcs\u00fc vard\u0131r.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromunun_genel_yonetimi_nasil_yapilir\"><\/span>Holt-Oram Sendromu&#8217;nun genel y\u00f6netimi nas\u0131l yap\u0131l\u0131r?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromu birden fazla sistemi etkiledi\u011fi i\u00e7in, y\u00f6netimi tek bir uzman\u0131n de\u011fil farkl\u0131 t\u0131p dallar\u0131ndan uzmanlar\u0131n bir araya geldi\u011fi &#8220;multidisipliner bir ekip&#8221; taraf\u0131ndan y\u00fcr\u00fct\u00fclmelidir. Y\u00f6netimin temel amac\u0131, her hastan\u0131n kendine \u00f6zg\u00fc sorunlar\u0131na y\u00f6nelik bir tedavi plan\u0131 olu\u015fturmak ve ya\u015fam kalitesini en \u00fcst d\u00fczeye \u00e7\u0131karmakt\u0131r.<\/p>\n<p>Bu ekipte genellikle \u015fu uzmanlar yer al\u0131r:<\/p>\n<ul>\n<li aria-level=\"1\">Kardiyolog<\/li>\n<li aria-level=\"1\">Kalp ve Damar Cerrah\u0131<\/li>\n<li aria-level=\"1\">Ortopedi Uzman\u0131 ve El Cerrah\u0131<\/li>\n<li aria-level=\"1\">Klinik Genetik\u00e7i<\/li>\n<li aria-level=\"1\">Fizyoterapist<\/li>\n<li aria-level=\"1\">Mesleki Terapist (Ergoterapist)<\/li>\n<li aria-level=\"1\">\u00c7ocuk Doktoru (Pediatrist)<\/li>\n<\/ul>\n<p>Tedavi, sadece ilk tan\u0131 an\u0131nda de\u011fil \u00f6m\u00fcr boyu s\u00fcrecek d\u00fczenli bir takip program\u0131n\u0131 i\u00e7erir. \u00d6zellikle kalp iletim sorunlar\u0131n\u0131n zamanla ilerleyebilmesi nedeniyle d\u00fczenli kardiyolojik kontroller hayati \u00f6nem ta\u015f\u0131r. \u00d6nerilen takip program\u0131 genellikle \u015funlar\u0131 i\u00e7erir:<\/p>\n<ul>\n<li aria-level=\"1\">Y\u0131ll\u0131k Elektrokardiyografi (EKG)<\/li>\n<li aria-level=\"1\">Y\u0131ll\u0131k Holter monit\u00f6rizasyonu (ritim bozuklu\u011fu olanlar i\u00e7in)<\/li>\n<li aria-level=\"1\">Her 1-5 y\u0131lda bir Ekokardiyografi (EKO) (yap\u0131sal kalp sorunu olanlar i\u00e7in)<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromunda_kalp_problemleri_nasil_tedavi_edilir\"><\/span>Holt-Oram Sendromu&#8217;nda kalp problemleri nas\u0131l tedavi edilir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Kalpteki sorunlar\u0131n tedavisi, problemin kalbin yap\u0131s\u0131yla m\u0131 yoksa elektriksel sistemiyle mi ilgili oldu\u011funa ba\u011fl\u0131 olarak planlan\u0131r.<\/p>\n<p>ASD ve VSD gibi kalpteki deliklerin tedavisi i\u00e7in se\u00e7enekler \u015funlard\u0131r:<\/p>\n<ul>\n<li>Cerrahi Kapatma: A\u00e7\u0131k kalp ameliyat\u0131 ile deli\u011fin bir yama kullan\u0131larak veya do\u011frudan diki\u015f at\u0131larak kapat\u0131lmas\u0131d\u0131r.<\/li>\n<li>Kateterle Kapatma: Uygun hastalarda, kas\u0131ktan girilen bir kateter arac\u0131l\u0131\u011f\u0131yla deli\u011fin \u015femsiye benzeri bir cihazla kapat\u0131lmas\u0131d\u0131r. Bu y\u00f6ntem daha az invazivdir.<\/li>\n<li>Kalpteki ritim ve iletim bozukluklar\u0131n\u0131n tedavisi i\u00e7in ise \u015fu y\u00f6ntemler kullan\u0131l\u0131r.<\/li>\n<li>\u0130la\u00e7 Tedavisi: D\u00fczensiz veya h\u0131zl\u0131 kalp ritimlerini kontrol alt\u0131na almak i\u00e7in kullan\u0131l\u0131r.<\/li>\n<li>Kalp Pili (Pacemaker) \u0130mplantasyonu: Kalp at\u0131\u015flar\u0131n\u0131n tehlikeli derecede yava\u015flad\u0131\u011f\u0131 veya kalpteki elektriksel iletimin tamamen kesildi\u011fi durumlarda hayat kurtar\u0131c\u0131d\u0131r.<\/li>\n<\/ul>\n<p>Tedavinin zamanlamas\u0131 \u00e7ok \u00f6nemlidir. Genellikle, hayati risk ta\u015f\u0131yan kalp sorunlar\u0131, fonksiyonel kol ameliyatlar\u0131ndan \u00f6nce ele al\u0131n\u0131r. \u00c7\u00fcnk\u00fc bir hastan\u0131n herhangi bir ameliyat i\u00e7in anestezi alabilmesi, \u00f6ncelikle kalbinin stabil olmas\u0131na ba\u011fl\u0131d\u0131r.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromunda_kol_ve_el_anormallikleri_icin_hangi_tedaviler_uygulanir\"><\/span>Holt-Oram Sendromu&#8217;nda kol ve el anormallikleri i\u00e7in hangi tedaviler uygulan\u0131r?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u00dcst uzuvlardaki tedavinin temel amac\u0131 estetik bir g\u00f6r\u00fcn\u00fcmden \u00e7ok, hastan\u0131n ellerini ve kollar\u0131n\u0131 g\u00fcnl\u00fck ya\u015famda m\u00fcmk\u00fcn olan en iyi \u015fekilde kullanmas\u0131n\u0131 sa\u011flamakt\u0131r. Yani odak noktas\u0131 &#8220;fonksiyon&#8221; ve &#8220;ba\u011f\u0131ms\u0131zl\u0131k&#8221;t\u0131r.<\/p>\n<p>Cerrahi olmayan tedaviler y\u00f6netimin temel ta\u015flar\u0131d\u0131r:<\/p>\n<ul>\n<li aria-level=\"1\">Fizik tedavi<\/li>\n<li aria-level=\"1\">Mesleki terapi (ergoterapi)<\/li>\n<li aria-level=\"1\">\u00d6zel yap\u0131m ateller ve ortezler<\/li>\n<\/ul>\n<p>Cerrahi tedaviler ise fonksiyonu \u00f6nemli \u00f6l\u00e7\u00fcde art\u0131rma potansiyeli oldu\u011funda d\u00fc\u015f\u00fcn\u00fcl\u00fcr.<\/p>\n<ul>\n<li>Pollizasyon: Ba\u015fparma\u011f\u0131n olmad\u0131\u011f\u0131 durumlarda, i\u015faret parma\u011f\u0131n\u0131n ba\u015fparmak g\u00f6revini \u00fcstlenmesi i\u00e7in transfer edildi\u011fi bir ameliyatt\u0131r.<\/li>\n<li>Ulnarizasyon\/Radializasyon: Elin bilekten i\u00e7e d\u00f6n\u00fck oldu\u011fu &#8220;clubhand&#8221; deformitesini d\u00fczeltmek i\u00e7in yap\u0131lan ameliyatlard\u0131r.<\/li>\n<li>Kontrakt\u00fcr gev\u015fetme: Eklemlerdeki sertlikleri d\u00fczeltmeye y\u00f6nelik giri\u015fimlerdir.<\/li>\n<li>Protezler: Kolun \u00fcst k\u0131s\u0131mlar\u0131nda ciddi eksiklik olan hastalarda fonksiyonu desteklemek i\u00e7in bir se\u00e7enek olabilir.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromlu_bireyler_icin_uzun_donemli_beklenti_prognoz_nedir\"><\/span>Holt-Oram Sendromlu bireyler i\u00e7in uzun d\u00f6nemli beklenti (prognoz) nedir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Holt-Oram sendromlu bireylerde hastal\u0131\u011f\u0131n uzun d\u00f6nemli seyri olduk\u00e7a de\u011fi\u015fkendir. Prognozu belirleyen en \u00f6nemli fakt\u00f6r, do\u011fu\u015ftan gelen kalp anomalisinin tipi ve ciddiyetidir.<\/p>\n<p>E\u011fer sendrom hafif formda ise, \u00f6rne\u011fin sadece k\u00fc\u00e7\u00fck bir bilek anomalisi varsa ve ciddi bir kalp kusuru yoksa, bu ki\u015filer d\u00fczenli kardiyolojik takip ile normal veya normale yak\u0131n bir ya\u015fam s\u00fcresine sahip olabilirler.<\/p>\n<p>Ancak prognoz, \u00f6nemli yap\u0131sal kalp kusurlar\u0131 veya ilerleyici kalp iletim hastal\u0131klar\u0131 olan bireyler i\u00e7in daha ciddidir. E\u011fer b\u00fcy\u00fck kalp delikleri tedavi edilmezse zamanla &#8220;Eisenmenger sendromu&#8221; olarak bilinen ve hayat\u0131 tehdit eden geri d\u00f6n\u00fc\u015f\u00fcms\u00fcz akci\u011fer damar hasar\u0131na yol a\u00e7abilirler. Benzer \u015fekilde tam kalp blo\u011fu gibi ciddi ritim bozukluklar\u0131 da ani riskler olu\u015fturabilir.<\/p>\n<p>Bu nedenle erken tan\u0131, do\u011fru zamanda yap\u0131lan kalp m\u00fcdahaleleri (ameliyat veya kalp pili) ve \u00f6m\u00fcr boyu d\u00fczenli takip, HOS&#8217;lu bireylerde uzun ve sa\u011fl\u0131kl\u0131 bir ya\u015fam\u0131n anahtar\u0131d\u0131r. Kol ve el anormallikleri ya\u015fam beklentisini do\u011frudan etkilemez, ancak ya\u015fam kalitesi \u00fczerinde \u00f6nemli bir rol oynar.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_icin_genetik_danismanligin_onemi_ve_tekrarlama_riski_nedir\"><\/span>Holt-Oram Sendromu i\u00e7in genetik dan\u0131\u015fmanl\u0131\u011f\u0131n \u00f6nemi ve tekrarlama riski nedir?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Genetik dan\u0131\u015fmanl\u0131k, Holt-Oram sendromu y\u00f6netiminin vazge\u00e7ilmez bir par\u00e7as\u0131d\u0131r. Bu sadece tek seferlik bir bilgilendirme toplant\u0131s\u0131 de\u011fil hastan\u0131n ve ailenin ya\u015fam\u0131 boyunca de\u011fi\u015fen ihtiya\u00e7lar\u0131na yan\u0131t veren dinamik bir diyalog s\u00fcrecidir.<\/p>\n<p>Genetik dan\u0131\u015fmanl\u0131\u011f\u0131n temel ama\u00e7lar\u0131 \u015funlard\u0131r:<\/p>\n<ul>\n<li aria-level=\"1\">Hastal\u0131\u011f\u0131n nedenini ve kal\u0131t\u0131m \u015feklini a\u00e7\u0131klamak<\/li>\n<li aria-level=\"1\">Aileye gelecekteki hamilelikler i\u00e7in %50&#8217;lik tekrarlama riskini anlatmak<\/li>\n<li aria-level=\"1\">Hastal\u0131\u011f\u0131n neden herkeste farkl\u0131 \u015fiddette g\u00f6r\u00fcld\u00fc\u011f\u00fcn\u00fc (de\u011fi\u015fkenlik) a\u00e7\u0131klamak<\/li>\n<li aria-level=\"1\">Ailedeki di\u011fer risk alt\u0131ndaki bireyler i\u00e7in tarama testlerini tart\u0131\u015fmak<\/li>\n<li aria-level=\"1\">Do\u011fum \u00f6ncesi tan\u0131 veya t\u00fcp bebekte embriyo se\u00e7imi (PGT) gibi se\u00e7enekler hakk\u0131nda bilgi vermek<\/li>\n<li aria-level=\"1\">Tan\u0131n\u0131n getirdi\u011fi duygusal y\u00fckle ba\u015fa \u00e7\u0131kmada aileye destek olmak<\/li>\n<\/ul>\n<p>Genetik dan\u0131\u015fmanl\u0131k, hastan\u0131n ya\u015fam\u0131n\u0131n farkl\u0131 evrelerinde (\u00f6rne\u011fin ergenlik, yeti\u015fkinlikte aile kurma d\u00f6nemi) tekrarlanmal\u0131d\u0131r. \u00c7\u00fcnk\u00fc her evrede bireyin sorular\u0131 ve endi\u015feleri farkl\u0131la\u015facakt\u0131r. Bu s\u00fcre\u00e7 bireyin bilin\u00e7li kararlar almas\u0131na ve hayat\u0131n\u0131 en iyi \u015fekilde y\u00f6netmesine olanak tan\u0131r.<br \/>\n<h2 class=\"accordion_title\"><span class=\"ez-toc-section\" id=\"Sikca_Sorulan_Sorular\"><\/span>S\u0131k\u00e7a Sorulan Sorular<span class=\"ez-toc-section-end\"><\/span><\/h2><div class=\"accordion\">\n\t<div id=\"accordion-2386790893\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2386790893-label\" class=\"accordion-title plain\" href=\"#accordion-item-holt-oram-sendromu-nedir?\" aria-expanded=\"false\" aria-controls=\"accordion-2386790893-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_nedir\"><\/span>Holt-Oram Sendromu nedir?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2386790893-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2386790893-label\" >\n\t\t\t\n<p>Holt-Oram Sendromu, do\u011fu\u015ftan gelen bir genetik bozukluktur ve el-kol anomalileri ile kalp hastal\u0131klar\u0131n\u0131 birlikte i\u00e7erir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-3064175104\" class=\"accordion-item\">\n\t\t<a id=\"accordion-3064175104-label\" class=\"accordion-title plain\" href=\"#accordion-item-hangi-gen-holt-oram-sendromu\u2019na-neden-olur?\" aria-expanded=\"false\" aria-controls=\"accordion-3064175104-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Hangi_gen_Holt-Oram_Sendromuna_neden_olur\"><\/span>Hangi gen Holt-Oram Sendromu\u2019na neden olur?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-3064175104-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-3064175104-label\" >\n\t\t\t\n<p>TBX5 genindeki mutasyon bu sendromun temel nedenidir ve otozomal dominant kal\u0131t\u0131m g\u00f6sterir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-3076326085\" class=\"accordion-item\">\n\t\t<a id=\"accordion-3076326085-label\" class=\"accordion-title plain\" href=\"#accordion-item-belirtileri-nelerdir?\" aria-expanded=\"false\" aria-controls=\"accordion-3076326085-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Belirtileri_nelerdir\"><\/span>Belirtileri nelerdir?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-3076326085-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-3076326085-label\" >\n\t\t\t\n<p>Eldeki ba\u015fparmak eksikli\u011fi, kol kemiklerinde \u015fekil bozuklu\u011fu ve kalpte delik (ASD, VSD) en yayg\u0131n belirtilerdir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-1485359283\" class=\"accordion-item\">\n\t\t<a id=\"accordion-1485359283-label\" class=\"accordion-title plain\" href=\"#accordion-item-kalp-hastal\u0131klar\u0131-ne-s\u0131kl\u0131kla-g\u00f6r\u00fcl\u00fcr?\" aria-expanded=\"false\" aria-controls=\"accordion-1485359283-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Kalp_hastaliklari_ne_siklikla_gorulur\"><\/span>Kalp hastal\u0131klar\u0131 ne s\u0131kl\u0131kla g\u00f6r\u00fcl\u00fcr?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-1485359283-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-1485359283-label\" >\n\t\t\t\n<p>Vakalar\u0131n %75\u2019inde atriyal septal defekt (ASD), ventrik\u00fcler septal defekt (VSD) veya ileti bozukluklar\u0131 bulunur.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2787100069\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2787100069-label\" class=\"accordion-title plain\" href=\"#accordion-item-sendrom-nas\u0131l-te\u015fhis-edilir?\" aria-expanded=\"false\" aria-controls=\"accordion-2787100069-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Sendrom_nasil_teshis_edilir\"><\/span>Sendrom nas\u0131l te\u015fhis edilir?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2787100069-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2787100069-label\" >\n\t\t\t\n<p>Fizik muayene, EKO, EKG ve genetik testlerle tan\u0131 konur.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2630647686\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2630647686-label\" class=\"accordion-title plain\" href=\"#accordion-item-holt-oram-sendromu-kal\u0131tsal-m\u0131d\u0131r?\" aria-expanded=\"false\" aria-controls=\"accordion-2630647686-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_kalitsal_midir\"><\/span>Holt-Oram Sendromu kal\u0131tsal m\u0131d\u0131r?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2630647686-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2630647686-label\" >\n\t\t\t\n<p>Evet, genellikle otozomal dominant \u015fekilde kal\u0131tsald\u0131r; aile bireylerinde de g\u00f6r\u00fclebilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-3304893213\" class=\"accordion-item\">\n\t\t<a id=\"accordion-3304893213-label\" class=\"accordion-title plain\" href=\"#accordion-item-sendromun-ba\u015fka-ad\u0131-var-m\u0131?\" aria-expanded=\"false\" aria-controls=\"accordion-3304893213-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Sendromun_baska_adi_var_mi\"><\/span>Sendromun ba\u015fka ad\u0131 var m\u0131?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-3304893213-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-3304893213-label\" >\n\t\t\t\n<p>Evet, \u201cKalp-El Sendromu\u201d olarak da bilinir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2124796392\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2124796392-label\" class=\"accordion-title plain\" href=\"#accordion-item-hangi-uzmana-ba\u015fvurmak-gerekir?\" aria-expanded=\"false\" aria-controls=\"accordion-2124796392-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Hangi_uzmana_basvurmak_gerekir\"><\/span>Hangi uzmana ba\u015fvurmak gerekir?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2124796392-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2124796392-label\" >\n\t\t\t\n<p>Kardiyolog, ortopedi ve genetik uzman\u0131 ortak \u00e7al\u0131\u015fmal\u0131d\u0131r.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-1680983440\" class=\"accordion-item\">\n\t\t<a id=\"accordion-1680983440-label\" class=\"accordion-title plain\" href=\"#accordion-item-el-kol-anomalileri-cerrahi-olarak-d\u00fczeltilebilir-mi?\" aria-expanded=\"false\" aria-controls=\"accordion-1680983440-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"El-kol_anomalileri_cerrahi_olarak_duzeltilebilir_mi\"><\/span>El-kol anomalileri cerrahi olarak d\u00fczeltilebilir mi?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-1680983440-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-1680983440-label\" >\n\t\t\t\n<p>Evet, i\u015flevi art\u0131rmak i\u00e7in ortopedik cerrahi gerekebilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2008567370\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2008567370-label\" class=\"accordion-title plain\" href=\"#accordion-item-kalp-hastal\u0131klar\u0131-ameliyatla-tedavi-edilir-mi?\" aria-expanded=\"false\" aria-controls=\"accordion-2008567370-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Kalp_hastaliklari_ameliyatla_tedavi_edilir_mi\"><\/span>Kalp hastal\u0131klar\u0131 ameliyatla tedavi edilir mi?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2008567370-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2008567370-label\" >\n\t\t\t\n<p>Kalpteki delikler (ASD, VSD) \u00e7o\u011fu zaman cerrahi ya da kateter y\u00f6ntemiyle kapat\u0131labilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-110719776\" class=\"accordion-item\">\n\t\t<a id=\"accordion-110719776-label\" class=\"accordion-title plain\" href=\"#accordion-item-\u00c7ocuklarda-ne-zaman-fark-edilir?\" aria-expanded=\"false\" aria-controls=\"accordion-110719776-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Cocuklarda_ne_zaman_fark_edilir\"><\/span>\u00c7ocuklarda ne zaman fark edilir?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-110719776-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-110719776-label\" >\n\t\t\t\n<p>Do\u011fumda veya erken \u00e7ocukluk d\u00f6neminde el anomalileri ve \u00fcf\u00fcr\u00fcm ile tan\u0131 konulabilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2126703668\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2126703668-label\" class=\"accordion-title plain\" href=\"#accordion-item-sendromun-\u015fiddeti-bireyden-bireye-de\u011fi\u015fir-mi?\" aria-expanded=\"false\" aria-controls=\"accordion-2126703668-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Sendromun_siddeti_bireyden_bireye_degisir_mi\"><\/span>Sendromun \u015fiddeti bireyden bireye de\u011fi\u015fir mi?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2126703668-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2126703668-label\" >\n\t\t\t\n<p>Evet, hafif el deformitelerinden ciddi kalp hastal\u0131klar\u0131na kadar geni\u015f bir yelpazede g\u00f6r\u00fclebilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2728303328\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2728303328-label\" class=\"accordion-title plain\" href=\"#accordion-item-gebelikte-tan\u0131s\u0131-konulabilir-mi?\" aria-expanded=\"false\" aria-controls=\"accordion-2728303328-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Gebelikte_tanisi_konulabilir_mi\"><\/span>Gebelikte tan\u0131s\u0131 konulabilir mi?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2728303328-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2728303328-label\" >\n\t\t\t\n<p>Ultrason ve genetik testlerle hamilelikte te\u015fhis m\u00fcmk\u00fcnd\u00fcr.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-1435576682\" class=\"accordion-item\">\n\t\t<a id=\"accordion-1435576682-label\" class=\"accordion-title plain\" href=\"#accordion-item-bu-sendrom-hayat\u0131-tehdit-eder-mi?\" aria-expanded=\"false\" aria-controls=\"accordion-1435576682-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Bu_sendrom_hayati_tehdit_eder_mi\"><\/span>Bu sendrom hayat\u0131 tehdit eder mi?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-1435576682-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-1435576682-label\" >\n\t\t\t\n<p>Kalp anomalilerine ba\u011fl\u0131 komplikasyonlar tedavi edilmezse ciddi olabilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t<div id=\"accordion-2625064534\" class=\"accordion-item\">\n\t\t<a id=\"accordion-2625064534-label\" class=\"accordion-title plain\" href=\"#accordion-item-holt-oram-sendromu-olan-\u00e7ocuklar-normal-e\u011fitim-alabilir-mi?\" aria-expanded=\"false\" aria-controls=\"accordion-2625064534-content\" >\n\t\t\t<button class=\"toggle\" aria-label=\"Toggle\"><i class=\"icon-angle-down\"><\/i><\/button>\n\t\t\t<h3 class=\"accordion-heading\" role=\"heading\" aria-level=\"3\"><span class=\"ez-toc-section\" id=\"Holt-Oram_Sendromu_olan_cocuklar_normal_egitim_alabilir_mi\"><\/span>Holt-Oram Sendromu olan \u00e7ocuklar normal e\u011fitim alabilir mi?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\t\t<\/a>\n\t\t<div id=\"accordion-2625064534-content\" class=\"accordion-inner\" aria-labelledby=\"accordion-2625064534-label\" >\n\t\t\t\n<p>Evet, \u00e7o\u011fu \u00e7ocuk \u00f6zel destekle normal e\u011fitim hayat\u0131na devam edebilir.<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Holt-Oram sendromu, kalp ve \u00fcst ekstremite kemiklerinde do\u011fu\u015ftan anormalliklerle seyreden nadir bir genetik hastal\u0131kt\u0131r. TBX5 genindeki mutasyon sonucu ortaya \u00e7\u0131kar ve otozomal dominant kal\u0131t\u0131m g\u00f6sterir. S\u0131kl\u0131kla \u201ckalp-el sendromu\u201d olarak da adland\u0131r\u0131l\u0131r. Belirtiler aras\u0131nda el bile\u011fi kemiklerinde \u015fekil bozukluklar\u0131, parmak eksiklikleri veya k\u0131sal\u0131klar\u0131 bulunur. Kalp taraf\u0131nda ise atriyal septal defekt, ventrik\u00fcler septal defekt ve iletim bozukluklar\u0131 [&#8230;]\n","protected":false},"author":7,"featured_media":9615,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[234],"tags":[],"class_list":["post-11025","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/posts\/11025","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/comments?post=11025"}],"version-history":[{"count":3,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/posts\/11025\/revisions"}],"predecessor-version":[{"id":13308,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/posts\/11025\/revisions\/13308"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/media\/9615"}],"wp:attachment":[{"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/media?parent=11025"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/categories?post=11025"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dryavuzbesogul.com\/en\/wp-json\/wp\/v2\/tags?post=11025"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}