{"id":1595,"date":"2025-02-16T00:00:00","date_gmt":"2025-02-15T22:00:00","guid":{"rendered":"https:\/\/gynaikologos-komotini.gr\/?p=1595"},"modified":"2026-06-18T13:50:02","modified_gmt":"2026-06-18T10:50:02","slug":"dogustan-kalp-hastaliklari","status":"publish","type":"post","link":"https:\/\/gynaikologos-komotini.gr\/tr\/dogustan-kalp-hastaliklari\/","title":{"rendered":"Konjenital kalp hastal\u0131klar\u0131"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"1595\" class=\"elementor elementor-1595 elementor-385\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-717ea8f e-flex e-con-boxed e-con e-parent\" data-id=\"717ea8f\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-aaf9af5 elementor-widget elementor-widget-text-editor\" data-id=\"aaf9af5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<h4 data-section-id=\"196drp\" data-start=\"0\" data-end=\"38\">Konjenital Kalp Hastal\u0131klar\u0131 (KKH)<\/h4><p data-start=\"40\" data-end=\"254\">Konjenital kalp hastal\u0131klar\u0131 (KKH), fetal ya\u015fam s\u0131ras\u0131nda kardiyovask\u00fcler sistemin eksik geli\u015fimi ve olu\u015fumu sonucu ortaya \u00e7\u0131kar. Her zaman do\u011fum an\u0131nda tan\u0131 konulamaz ve \u00f6zellikle hafif formlar\u0131 tan\u0131dan ka\u00e7abilir.<\/p><h4 data-section-id=\"9gm4jx\" data-start=\"256\" data-end=\"296\">Farkl\u0131 Ya\u015f Gruplar\u0131nda KKH Prevalans\u0131<\/h4><p data-start=\"298\" data-end=\"520\">Her ya\u015f grubundaki KKH prevalans\u0131 bir yandan kullan\u0131lan tan\u0131 y\u00f6ntemine (klinik veya g\u00f6r\u00fcnt\u00fcleme y\u00f6ntemleri), ancak esas olarak bir ya\u015f grubundaki hastalar\u0131n bir sonraki ya\u015f grubuna kadar hayatta kalma olas\u0131l\u0131\u011f\u0131na ba\u011fl\u0131d\u0131r.<\/p><p data-start=\"522\" data-end=\"986\">KKH&#8217;ler, gebeli\u011fin ilk trimesterinde kardiyovask\u00fcler sistemin olu\u015fumunun tamamlanmas\u0131yla birlikte zaten mevcuttur. Fetal d\u00f6nemdeki prevalanslar\u0131, prenatal tarama s\u0131ras\u0131nda saptanabilme olas\u0131l\u0131\u011f\u0131na ba\u011fl\u0131d\u0131r. Ayr\u0131ca, KKH&#8217;li fet\u00fcslerde s\u0131kl\u0131kla kromozomal anomaliler veya di\u011fer organ sistemlerine ait malformasyonlar bulundu\u011fundan, bunlar\u0131n bir k\u0131sm\u0131 spontan d\u00fc\u015f\u00fck (\u00f6zellikle fetal karyotip anomalilerinde s\u0131k g\u00f6r\u00fcl\u00fcr) veya intrauterin \u00f6l\u00fcm nedeniyle do\u011fuma ula\u015famaz.<\/p><p data-start=\"988\" data-end=\"1301\">Bu nedenle, teorik olarak ideal tan\u0131sal g\u00f6r\u00fcnt\u00fcleme ile fetal ya\u015famda saptanabilecek KKH s\u0131kl\u0131\u011f\u0131, bebeklik d\u00f6nemindeki s\u0131kl\u0131ktan \u00f6nemli \u00f6l\u00e7\u00fcde daha y\u00fcksektir. Buna ek olarak gebeli\u011fin sonland\u0131r\u0131lmas\u0131 \u015feklindeki t\u0131bbi m\u00fcdahale olas\u0131l\u0131\u011f\u0131 da hesaba kat\u0131ld\u0131\u011f\u0131nda, fetal d\u00f6nemde KKH saptanma oran\u0131 daha da artmaktad\u0131r.<\/p><p data-start=\"1303\" data-end=\"1679\">\u00c7al\u0131\u015fmalara g\u00f6re KKH prevalans\u0131, 1.000 canl\u0131 do\u011fumda 5\u20138 vaka olarak bildirilmektedir. Hafif KKH formlar\u0131n\u0131n tan\u0131 almam\u0131\u015f olabilece\u011fi g\u00f6z \u00f6n\u00fcne al\u0131nd\u0131\u011f\u0131nda, bir yenido\u011fanda KKH g\u00f6r\u00fclme olas\u0131l\u0131\u011f\u0131n\u0131n 1:100&#8217;e kadar ula\u015fabilece\u011fi varsay\u0131labilir. Bunlar\u0131n yakla\u015f\u0131k d\u00f6rtte biri, yenido\u011fan veya s\u00fct \u00e7ocuklu\u011fu d\u00f6neminde cerrahi tedavi gerektiren a\u011f\u0131r KKH formlar\u0131n\u0131 temsil etmektedir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-ae66c93 e-flex e-con-boxed e-con e-parent\" data-id=\"ae66c93\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-a5265be elementor-widget elementor-widget-text-editor\" data-id=\"a5265be\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<h2 data-section-id=\"1nd42iw\" data-start=\"1681\" data-end=\"1717\">Belirli KKH T\u00fcrlerinin Prevalans\u0131<\/h2><p data-start=\"1719\" data-end=\"1919\">KKH&#8217;nin ve belirli alt tiplerinin prevalans\u0131, kullan\u0131lan tan\u0131 y\u00f6ntemine (klinik muayene, ultrasonografi vb.) ve de\u011ferlendirmenin yap\u0131ld\u0131\u011f\u0131 ya\u015fa (fetal, neonatal, \u00e7ocukluk veya eri\u015fkin d\u00f6nem) ba\u011fl\u0131d\u0131r.<\/p><p data-start=\"1921\" data-end=\"2170\">Ultrasonografik tan\u0131n\u0131n yayg\u0131n olarak kullan\u0131lmaya ba\u015fland\u0131\u011f\u0131 d\u00f6nemde yap\u0131lan ilk prevalans \u00e7al\u0131\u015fmalar\u0131ndan biri olan <strong data-start=\"2039\" data-end=\"2088\">Baltimore-Washington Infant Study (1981\u20131989)<\/strong> sonu\u00e7lar\u0131na g\u00f6re, 10.000 canl\u0131 do\u011fum ba\u015f\u0131na en s\u0131k g\u00f6r\u00fclen KKH t\u00fcrleri \u015funlard\u0131r:<\/p><ul data-start=\"2172\" data-end=\"2770\"><li data-section-id=\"pl795z\" data-start=\"2172\" data-end=\"2237\"><a href=\"https:\/\/gynaikologos-komotini.gr\/tr\/ventrikuler-septal-defekt\/\">Ventrik\u00fcler septal defekt (VSD)<\/a> (15) (en s\u0131k perimembran\u00f6z tip)<\/li><li data-section-id=\"18kk563\" data-start=\"2238\" data-end=\"2261\">Pulmoner atrezi (5,8)<\/li><li data-section-id=\"12jz9et\" data-start=\"2262\" data-end=\"2285\">Pulmoner stenoz (3,8)<\/li><li data-section-id=\"u9d587\" data-start=\"2286\" data-end=\"2310\">Trik\u00fcspit atrezi (3,6)<\/li><li data-section-id=\"1cerofz\" data-start=\"2311\" data-end=\"2393\"><a href=\"https:\/\/gynaikologos-komotini.gr\/tr\/elementor-1526\/\">Atriyoventrik\u00fcler septal defekt (AVSD)<\/a> [\u00f6zellikle Trizomi 21 ile birlikte] (3,3)<\/li><li data-section-id=\"3hllly\" data-start=\"2394\" data-end=\"2439\">B\u00fcy\u00fck arterlerin transpozisyonu (TGA) (2,6)<\/li><li data-section-id=\"19ursp9\" data-start=\"2440\" data-end=\"2472\">Fallot tetralojisi (TOF) (2,6)<\/li><li data-section-id=\"1nq86q3\" data-start=\"2473\" data-end=\"2508\">Atriyal septal defekt (ASD) (2,3)<\/li><li data-section-id=\"1aqplij\" data-start=\"2509\" data-end=\"2553\">Hipoplastik sol kalp sendromu (HLHS) (1,8)<\/li><li data-section-id=\"1tbc8bj\" data-start=\"2554\" data-end=\"2579\">Aort koarktasyonu (1,4)<\/li><li data-section-id=\"v39urn\" data-start=\"2580\" data-end=\"2609\">\u0130zomerizm sendromlar\u0131 (1,4)<\/li><li data-section-id=\"1eiq6w1\" data-start=\"2610\" data-end=\"2648\">Patent duktus arteriozus (PDA) (0,8)<\/li><li data-section-id=\"jacjeh\" data-start=\"2649\" data-end=\"2675\">Aort kapak stenozu (0,8)<\/li><li data-section-id=\"1qp6hrs\" data-start=\"2676\" data-end=\"2702\">Trunkus arteriozus (0,7)<\/li><li data-section-id=\"1j22vg8\" data-start=\"2703\" data-end=\"2744\">\u00c7ift \u00e7\u0131k\u0131\u015fl\u0131 sa\u011f ventrik\u00fcl (DORV) (0,5)<\/li><li data-section-id=\"1r1utdd\" data-start=\"2745\" data-end=\"2770\">Ebstein anomalisi (0,5)<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e2d0780 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"e2d0780\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-8cb6c17 e-con-full e-flex e-con e-parent\" data-id=\"8cb6c17\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-1267fd5 elementor-widget elementor-widget-text-editor\" data-id=\"1267fd5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<h4 data-section-id=\"180f2fk\" data-start=\"2772\" data-end=\"2811\">Prenatal Tan\u0131 ve KKH Epidemiyolojisi<\/h4><p data-start=\"2813\" data-end=\"3007\">KKH epidemiyolojisi (genel ve hastal\u0131\u011fa \u00f6zg\u00fc prevalans), hem hastalar\u0131n bir ya\u015f grubundan di\u011ferine hayatta kalma olas\u0131l\u0131\u011f\u0131na hem de her hastal\u0131\u011f\u0131n subklinik formlar\u0131n\u0131n tan\u0131nabilmesine ba\u011fl\u0131d\u0131r.<\/p><p data-start=\"3009\" data-end=\"3230\">Pediatrik kalp cerrahisindeki ilerlemeler, a\u011f\u0131r neonatal KKH formlar\u0131nda bile ya\u015fam \u015fans\u0131n\u0131 belirgin \u015fekilde art\u0131rm\u0131\u015ft\u0131r. Sonu\u00e7 olarak g\u00fcn\u00fcm\u00fczde pratik olarak hi\u00e7bir KKH tipi ya\u015famla ba\u011fda\u015fmaz olarak kabul edilmemektedir.<\/p><p data-start=\"3232\" data-end=\"3498\">Do\u011fumdan sonra tan\u0131 konulan her KKH olgusunun, modern tedavi y\u00f6ntemleri sayesinde hastal\u0131\u011f\u0131n do\u011fal seyrine k\u0131yasla daha iyi bir prognoza sahip olmas\u0131 beklenmektedir. Bu nedenle gelecekte KKH \u00f6yk\u00fcs\u00fc bulunan \u00e7ocuk ve eri\u015fkin say\u0131s\u0131n\u0131n giderek artaca\u011f\u0131 \u00f6ng\u00f6r\u00fclmektedir.<\/p><p data-start=\"3500\" data-end=\"3790\">Bununla birlikte, fetal KKH&#8217;nin prenatal tan\u0131s\u0131n\u0131n epidemiyoloji \u00fczerindeki etkisi daha karma\u015f\u0131kt\u0131r ve birbirine z\u0131t iki etki i\u00e7erir. Prenatal tan\u0131, etkilenen fet\u00fcslerin hayatta kalma olas\u0131l\u0131\u011f\u0131n\u0131 hem art\u0131rabilir hem de azaltabilir; nihai etki bu iki kar\u015f\u0131t etkinin toplam sonucunu yans\u0131t\u0131r.<\/p><p data-start=\"3792\" data-end=\"4018\">Olumlu etki, hen\u00fcz ara\u015ft\u0131rma a\u015famas\u0131nda olan prenatal cerrahi tedaviden \u00e7ok, hastal\u0131\u011f\u0131n \u00f6nceden bilinmesi ve do\u011fum sonras\u0131nda yenido\u011fan\u0131n h\u0131zl\u0131 \u015fekilde tedaviye haz\u0131rlanabilmesi sayesinde ortaya \u00e7\u0131kar. Bu haz\u0131rl\u0131klar aras\u0131nda:<\/p><ul data-start=\"4020\" data-end=\"4205\"><li data-section-id=\"1d1irsh\" data-start=\"4020\" data-end=\"4083\">Do\u011fumun kalp cerrahisi merkezine yak\u0131n bir yerde planlanmas\u0131,<\/li><li data-section-id=\"3ienxp\" data-start=\"4084\" data-end=\"4131\">Cerrahi tedavinin gecikmeden uygulanabilmesi,<\/li><li data-section-id=\"pg4rmu\" data-start=\"4132\" data-end=\"4205\">Ge\u00e7 tan\u0131ya ba\u011fl\u0131 hipoksi, asidoz ve hayati organ hasarlar\u0131n\u0131n \u00f6nlenmesi<\/li><\/ul><p data-start=\"4207\" data-end=\"4222\">yer almaktad\u0131r.<\/p><p data-start=\"4224\" data-end=\"4425\">Olumsuz etki ise, \u00f6zellikle a\u011f\u0131r KKH formlar\u0131n\u0131n ba\u015fka sistem anomalileri veya genetik sendromlarla birlikte g\u00f6r\u00fcld\u00fc\u011f\u00fc durumlarda, ailenin gebeli\u011fi sonland\u0131rma karar\u0131 verebilmesinden kaynaklanmaktad\u0131r.<\/p><p data-start=\"4427\" data-end=\"4743\">Basit bir matematiksel modele g\u00f6re, prenatal tan\u0131n\u0131n mevcut duyarl\u0131l\u0131\u011f\u0131 dikkate al\u0131nd\u0131\u011f\u0131nda, KKH&#8217;li do\u011fumlar\u0131n yakla\u015f\u0131k %15 oran\u0131nda azalmas\u0131 beklenmektedir. Tan\u0131n\u0131n gebeli\u011fin daha erken haftalar\u0131nda konulmas\u0131 ve gebelik sonland\u0131rma karar\u0131n\u0131n %40 oran\u0131nda artmas\u0131 durumunda ise bu azalma yakla\u015f\u0131k %21&#8217;e ula\u015fmaktad\u0131r.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-c6a54e6 e-flex e-con-boxed e-con e-parent\" data-id=\"c6a54e6\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-7a6fb14 elementor-widget elementor-widget-text-editor\" data-id=\"7a6fb14\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<h4 data-section-id=\"1odpzkd\" data-start=\"4745\" data-end=\"4768\">KKH&#8217;nin Kal\u0131tsall\u0131\u011f\u0131<\/h4><p data-start=\"4770\" data-end=\"4801\">KKH kal\u0131tsal hastal\u0131klar m\u0131d\u0131r?<\/p><p data-start=\"4803\" data-end=\"5002\">Yan\u0131t, bunlar\u0131n b\u00fcy\u00fck \u00f6l\u00e7\u00fcde \u00e7ok fakt\u00f6rl\u00fc hastal\u0131klar oldu\u011fudur. Vakalar\u0131n yakla\u015f\u0131k %85&#8217;inde neden bilinmemekte olup, genetik ve \u00e7evresel fakt\u00f6rlerin etkile\u015fimi sonucu ortaya \u00e7\u0131kt\u0131\u011f\u0131 d\u00fc\u015f\u00fcn\u00fclmektedir.<\/p><p data-start=\"5004\" data-end=\"5188\">Bununla birlikte, vakalar\u0131n yakla\u015f\u0131k %10&#8217;unda KKH varl\u0131\u011f\u0131, etkilenen bireyde kromozomal anomaliler veya monogenik hastal\u0131klarla ili\u015fkilidir (\u00f6rne\u011fin Trizomi 21, DiGeorge sendromu vb.).<\/p><p data-start=\"5190\" data-end=\"5325\">Ayr\u0131ca ila\u00e7lar, viral enfeksiyonlar ve di\u011fer bilinen teratojenik fakt\u00f6rler de gebelik s\u0131ras\u0131nda KKH&#8217;nin k\u00fc\u00e7\u00fck bir k\u0131sm\u0131ndan sorumludur.<\/p><p data-start=\"5327\" data-end=\"5529\">Birinci derece akrabalarda KKH bulunmas\u0131 durumunda, \u00e7ocukta (veya fet\u00fcste) KKH g\u00f6r\u00fclme olas\u0131l\u0131\u011f\u0131 anlaml\u0131 derecede artmaktad\u0131r. \u00c7\u00fcnk\u00fc bu risk, genel pop\u00fclasyondaki yakla\u015f\u0131k %1&#8217;lik temel riski a\u015fmaktad\u0131r.<\/p><p data-start=\"5531\" data-end=\"5739\">Bir\u00e7ok \u00e7al\u0131\u015fma, etkilenen birinci derece akraba anne oldu\u011funda \u00e7ocukta KKH riskinin %3&#8217;\u00fcn \u00fczerinde oldu\u011funu; buna kar\u015f\u0131l\u0131k etkilenen ki\u015fi baba veya karde\u015f oldu\u011funda riskin %1\u20133 aras\u0131nda oldu\u011funu g\u00f6stermi\u015ftir.<\/p><p data-start=\"5741\" data-end=\"5981\">Son olarak, baz\u0131 KKH t\u00fcrleri di\u011ferlerine g\u00f6re daha y\u00fcksek kal\u0131tsall\u0131k g\u00f6stermektedir. \u00d6zellikle aort kapak stenozu, atriyoventrik\u00fcler septal defekt veya Fallot tetralojisi bulunan annelerin \u00e7ocuklar\u0131nda KKH g\u00f6r\u00fclme riski %10&#8217;un \u00fczerindedir.<\/p><p data-start=\"5983\" data-end=\"6170\">Buna kar\u015f\u0131l\u0131k, ventrik\u00fcler septal defekt, atriyal septal defekt, patent duktus arteriozus veya Fallot tetralojisi bulunan karde\u015flere sahip \u00e7ocuklarda KKH riski yakla\u015f\u0131k %2\u20133 d\u00fczeyindedir.<\/p><p data-start=\"6172\" data-end=\"6318\" data-is-last-node=\"\" data-is-only-node=\"\">A\u015fa\u011f\u0131daki tablolarda, ebeveynlerde (anne veya baba) ya da karde\u015flerde KKH bulunmas\u0131na ba\u011fl\u0131 olarak \u00e7ocukta KKH g\u00f6r\u00fclme olas\u0131l\u0131klar\u0131 sunulmaktad\u0131r.<\/p><table><thead><tr><th>Ebeveyndeki Konjenital Kalp Hastal\u0131\u011f\u0131<\/th><th>Anne Etkilenmi\u015fse \u00c7ocukta KKH Riski (%) \/ Baba Etkilenmi\u015fse \u00c7ocukta KKH Riski (%)<\/th><\/tr><\/thead><tbody><tr><td>Aort Kapak Darl\u0131\u011f\u0131 (Aortic Valve Stenosis)<\/td><td>18 \/ 3<\/td><\/tr><tr><td>Atriyoventrik\u00fcler Septal Defekt (AVSD)<\/td><td>14 \/ 1<\/td><\/tr><tr><td>Fallot Tetralojisi (TOF)<\/td><td>10 \/ 1,5<\/td><\/tr><tr><td>Ventrik\u00fcler Septal Defekt (VSD)<\/td><td>6 \/ 2<\/td><\/tr><tr><td>Pulmoner Kapak Darl\u0131\u011f\u0131 (Pulmonary Valve Stenosis)<\/td><td>4 \/ 2<\/td><\/tr><tr><td>Aort Koarktasyonu (CoA), Patent Duktus Arteriozus (PDA)<\/td><td>4 \/ 2<\/td><\/tr><\/tbody><\/table><p><strong data-start=\"670\" data-end=\"682\">Tablo 1.<\/strong> Konjenital kalp hastal\u0131\u011f\u0131 bulunan ebeveynlerin \u00e7ocuklar\u0131nda konjenital kalp hastal\u0131\u011f\u0131 g\u00f6r\u00fclme olas\u0131l\u0131\u011f\u0131.<\/p><table><thead><tr><th>Karde\u015fte Bulunan Konjenital Kalp Hastal\u0131\u011f\u0131<\/th><th>\u00c7ocukta KKH Riski (%)<\/th><\/tr><\/thead><tbody><tr><td>Ventrik\u00fcler Septal Defekt (VSD), Patent Duktus Arteriozus (PDA)<\/td><td>3,0<\/td><\/tr><tr><td>Fallot Tetralojisi (TOF), Atriyal Septal Defekt (ASD)<\/td><td>2,5<\/td><\/tr><tr><td>Aort Kapak Darl\u0131\u011f\u0131, Pulmoner Kapak Darl\u0131\u011f\u0131, Aort Koarktasyonu (CoA)<\/td><td>2,0<\/td><\/tr><tr><td>Atriyoventrik\u00fcler Septal Defekt (AVSD), Hipoplastik Sol Kalp Sendromu (HLHS)<\/td><td>2,0<\/td><\/tr><tr><td>B\u00fcy\u00fck Arterlerin Transpozisyonu (TGA)<\/td><td>1,5<\/td><\/tr><tr><td>Trik\u00fcspit Atrezisi, Pulmoner Atrezi, Trunkus Arteriozus, Ebstein Anomalisi<\/td><td><p>1,0<\/p><\/td><\/tr><\/tbody><\/table><p><strong data-start=\"1468\" data-end=\"1480\">Tablo 2.<\/strong> Karde\u015finde konjenital kalp hastal\u0131\u011f\u0131 bulunan \u00e7ocuklarda konjenital kalp hastal\u0131\u011f\u0131 g\u00f6r\u00fclme riski.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-3e9062c e-flex e-con-boxed e-con e-parent\" data-id=\"3e9062c\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-1789c8b elementor-widget elementor-widget-text-editor\" data-id=\"1789c8b\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<h4 data-section-id=\"1ozrarh\" data-start=\"0\" data-end=\"50\">Genetik Sendromlar ve Do\u011fu\u015ftan Kalp Hastal\u0131klar\u0131<\/h4><p data-start=\"52\" data-end=\"632\">Do\u011fu\u015ftan kalp hastal\u0131klar\u0131 (DKH) ile kromozomal veya genetik anomalilere ba\u011fl\u0131 genetik sendromlar ve belirli malformasyonlar\u0131n birlikte g\u00f6r\u00fcld\u00fc\u011f\u00fc durumlar (associations) aras\u0131ndaki ili\u015fki olduk\u00e7a g\u00fc\u00e7l\u00fcd\u00fcr. Yenido\u011fanlarda tan\u0131 konulan DKH\u2019lerin en az %10\u2019u ve fet\u00fcslerde tan\u0131 konulanlar\u0131n daha da b\u00fcy\u00fck bir b\u00f6l\u00fcm\u00fc (%30\u2019a kadar) kromozomal veya genetik anomalilerle ili\u015fkilidir. Fetal d\u00f6nemde kromozomal anomalilerin saptanma olas\u0131l\u0131\u011f\u0131n\u0131n yenido\u011fan d\u00f6nemine g\u00f6re daha y\u00fcksek olmas\u0131, kromozomal anomalili fet\u00fcslerde intrauterin \u00f6l\u00fcm riskinin daha y\u00fcksek olmas\u0131ndan kaynaklanmaktad\u0131r.<\/p><p data-start=\"634\" data-end=\"1184\">Bu ili\u015fki o kadar g\u00fc\u00e7l\u00fcd\u00fcr ki, fetal d\u00f6nemde bir DKH tan\u0131s\u0131 konulmas\u0131, e\u015flik eden bir kromozomal anomalinin d\u0131\u015flanmas\u0131 amac\u0131yla fetal karyotip analizinin \u00f6nerilmesi i\u00e7in bir endikasyon olu\u015fturur. Bu durum \u00f6zellikle kalp kusurunun di\u011fer organ sistemlerine ait yap\u0131sal anomalilerle birlikte g\u00f6r\u00fcld\u00fc\u011f\u00fc vakalarda \u00f6nem ta\u015f\u0131r. Ayr\u0131ca baz\u0131 DKH t\u00fcrleri belirli kromozomal anomalilerle daha g\u00fc\u00e7l\u00fc \u015fekilde ili\u015fkilidir. \u00d6rne\u011fin, atriyoventrik\u00fcler septal defektin (AVSD) Trizomi 21 ile ve aort koarktasyonunun (CoA) Turner sendromu ile g\u00fc\u00e7l\u00fc bir ili\u015fkisi vard\u0131r.<\/p><p data-start=\"1186\" data-end=\"1678\">Baz\u0131 genetik mutasyonlar yaln\u0131zca \u00f6zel tekniklerle (\u00f6rne\u011fin FISH analizi) saptanabildi\u011finden, belirli DKH t\u00fcrleriyle ili\u015fkili sendromlar i\u00e7in hedeflenmi\u015f genetik incelemelerin yap\u0131lmas\u0131 b\u00fcy\u00fck \u00f6nem ta\u015f\u0131r. Tipik \u00f6rnekler aras\u0131nda konotrunkal anomaliler (\u00f6rne\u011fin trunkus arteriozus) ile DiGeorge sendromu, supravalv\u00fcler aort stenozu ve periferik pulmoner arter stenozu ile Williams sendromu ve displastik pulmoner kapak ile sol ventrik\u00fcl hipertrofisinin Noonan sendromu ile ili\u015fkisi say\u0131labilir.<\/p><p data-start=\"1680\" data-end=\"1929\">Bu nedenle, \u00f6zellikle genetik bir sendromu d\u00fc\u015f\u00fcnd\u00fcren belirgin fenotipik \u00f6zellikler, b\u00fcy\u00fcme bozukluklar\u0131, \u00f6\u011frenme g\u00fc\u00e7l\u00fckleri veya davran\u0131\u015f problemleri bulunan DKH\u2019li \u00e7ocuklar\u0131n klinik genetik uzman\u0131 taraf\u0131ndan de\u011ferlendirilmesi son derece \u00f6nemlidir.<\/p><p data-start=\"1931\" data-end=\"2122\">A\u015fa\u011f\u0131daki tablolarda kromozomal sendromlar, tek gen hastal\u0131klar\u0131 ve \u00e7oklu malformasyon birlikteliklerinde DKH g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 ile her durumda en s\u0131k kar\u015f\u0131la\u015f\u0131lan kalp kusurlar\u0131 \u00f6zetlenmi\u015ftir.<\/p><hr data-start=\"2124\" data-end=\"2127\" \/><h2 data-section-id=\"1pv2p3d\" data-start=\"2129\" data-end=\"2192\">\u00a0<\/h2><div class=\"TyagGW_tableContainer\"><div class=\"group TyagGW_tableWrapper flex flex-col-reverse w-fit\" tabindex=\"-1\"><table class=\"w-fit min-w-(--thread-content-width)\" data-start=\"2194\" data-end=\"2938\"><thead data-start=\"2194\" data-end=\"2266\"><tr data-start=\"2194\" data-end=\"2266\"><th class=\"last:pe-10\" data-start=\"2194\" data-end=\"2215\" data-col-size=\"sm\">Kromozomal Sendrom<\/th><th class=\"last:pe-10\" data-start=\"2215\" data-end=\"2239\" data-col-size=\"sm\">DKH G\u00f6r\u00fclme Olas\u0131l\u0131\u011f\u0131<\/th><th class=\"last:pe-10\" data-start=\"2239\" data-end=\"2266\" data-col-size=\"lg\">S\u0131k G\u00f6r\u00fclen DKH T\u00fcrleri<\/th><\/tr><\/thead><tbody data-start=\"2339\" data-end=\"2938\"><tr data-start=\"2339\" data-end=\"2449\"><td data-start=\"2339\" data-end=\"2368\" data-col-size=\"sm\">Trizomi 21 (Down Sendromu)<\/td><td data-start=\"2368\" data-end=\"2374\" data-col-size=\"sm\">%50<\/td><td data-start=\"2374\" data-end=\"2449\" data-col-size=\"lg\">Atriyoventrik\u00fcler Septal Defekt (AVSD), Ventrik\u00fcler Septal Defekt (VSD)<\/td><\/tr><tr data-start=\"2450\" data-end=\"2587\"><td data-start=\"2450\" data-end=\"2480\" data-col-size=\"sm\">Trizomi 13 (Patau Sendromu)<\/td><td data-start=\"2480\" data-end=\"2486\" data-col-size=\"sm\">%80<\/td><td data-start=\"2486\" data-end=\"2587\" data-col-size=\"lg\">Atriyoventrik\u00fcler Septal Defekt (AVSD), Ventrik\u00fcler Septal Defekt (VSD), Fallot Tetralojisi (TOF)<\/td><\/tr><tr data-start=\"2588\" data-end=\"2737\"><td data-start=\"2588\" data-end=\"2620\" data-col-size=\"sm\">Trizomi 18 (Edwards Sendromu)<\/td><td data-start=\"2620\" data-end=\"2627\" data-col-size=\"sm\">%100<\/td><td data-start=\"2627\" data-end=\"2737\" data-col-size=\"lg\">Atriyoventrik\u00fcler Septal Defekt (AVSD), Ventrik\u00fcler Septal Defekt (VSD), \u00c7ift \u00c7\u0131k\u0131\u015fl\u0131 Sa\u011f Ventrik\u00fcl (DORV)<\/td><\/tr><tr data-start=\"2738\" data-end=\"2815\"><td data-start=\"2738\" data-end=\"2756\" data-col-size=\"sm\">Turner Sendromu<\/td><td data-start=\"2756\" data-end=\"2762\" data-col-size=\"sm\">%35<\/td><td data-start=\"2762\" data-end=\"2815\" data-col-size=\"lg\">Aort Kapak Darl\u0131\u011f\u0131 (AoS), Aort Koarktasyonu (CoA)<\/td><\/tr><tr data-start=\"2816\" data-end=\"2878\"><td data-start=\"2816\" data-end=\"2839\" data-col-size=\"sm\">Klinefelter Sendromu<\/td><td data-start=\"2839\" data-end=\"2845\" data-col-size=\"sm\">%50<\/td><td data-start=\"2845\" data-end=\"2878\" data-col-size=\"lg\">Mitral Kapak Prolapsusu (MVP)<\/td><\/tr><tr data-start=\"2879\" data-end=\"2938\"><td data-start=\"2879\" data-end=\"2899\" data-col-size=\"sm\">Frajil X Sendromu<\/td><td data-start=\"2899\" data-end=\"2905\" data-col-size=\"sm\">%70<\/td><td data-start=\"2905\" data-end=\"2938\" data-col-size=\"lg\">Mitral Kapak Prolapsusu (MVP)<\/td><\/tr><\/tbody><\/table><\/div><\/div><p data-start=\"2940\" data-end=\"3005\"><strong data-start=\"2940\" data-end=\"3005\">Tablo 3.<\/strong> Kromozomal sendromlar ve do\u011fu\u015ftan kalp hastal\u0131klar\u0131.<\/p><hr data-start=\"3007\" data-end=\"3010\" \/><h2 data-section-id=\"enc2l9\" data-start=\"3012\" data-end=\"3074\">\u00a0<\/h2><div class=\"TyagGW_tableContainer\"><div class=\"group TyagGW_tableWrapper flex flex-col-reverse w-fit\" tabindex=\"-1\"><table class=\"w-fit min-w-(--thread-content-width)\" data-start=\"3076\" data-end=\"3929\"><thead data-start=\"3076\" data-end=\"3172\"><tr data-start=\"3076\" data-end=\"3172\"><th class=\"last:pe-10\" data-start=\"3076\" data-end=\"3096\" data-col-size=\"sm\">Tek Gen Hastal\u0131\u011f\u0131<\/th><th class=\"last:pe-10\" data-start=\"3096\" data-end=\"3112\" data-col-size=\"sm\">Kal\u0131t\u0131m \u015eekli<\/th><th class=\"last:pe-10\" data-start=\"3112\" data-end=\"3124\" data-col-size=\"sm\">Gen\/Lokus<\/th><th class=\"last:pe-10\" data-start=\"3124\" data-end=\"3172\" data-col-size=\"md\">S\u0131k G\u00f6r\u00fclen DKH veya Di\u011fer Kardiyak Bulgular<\/th><\/tr><\/thead><tbody data-start=\"3271\" data-end=\"3929\"><tr data-start=\"3271\" data-end=\"3425\"><td data-start=\"3271\" data-end=\"3291\" data-col-size=\"sm\">DiGeorge Sendromu<\/td><td data-start=\"3291\" data-end=\"3311\" data-col-size=\"sm\">Otozomal Dominant<\/td><td data-start=\"3311\" data-end=\"3344\" data-col-size=\"sm\">\u00c7oklu genler \/ 22q11 delesyonu<\/td><td data-start=\"3344\" data-end=\"3425\" data-col-size=\"md\">Trunkus Arteriozus (TAC), Fallot Tetralojisi (TOF), Kesintili Aort Ark\u0131 (IAA)<\/td><\/tr><tr data-start=\"3426\" data-end=\"3543\"><td data-start=\"3426\" data-end=\"3444\" data-col-size=\"sm\">Marfan Sendromu<\/td><td data-start=\"3444\" data-end=\"3464\" data-col-size=\"sm\">Otozomal Dominant<\/td><td data-start=\"3464\" data-end=\"3493\" data-col-size=\"sm\">FBN1 (Fibrillin-1) \/ 15q21<\/td><td data-start=\"3493\" data-end=\"3543\" data-col-size=\"md\">Aort K\u00f6k\u00fc Dilatasyonu, Mitral Kapak Prolapsusu<\/td><\/tr><tr data-start=\"3544\" data-end=\"3674\"><td data-start=\"3544\" data-end=\"3564\" data-col-size=\"sm\">Williams Sendromu<\/td><td data-start=\"3564\" data-end=\"3584\" data-col-size=\"sm\">Otozomal Dominant<\/td><td data-start=\"3584\" data-end=\"3607\" data-col-size=\"sm\">Elastin (ELN) \/ 7q11<\/td><td data-start=\"3607\" data-end=\"3674\" data-col-size=\"md\">Supravalv\u00fcler Aort Darl\u0131\u011f\u0131, Periferik Pulmoner Arter Darl\u0131klar\u0131<\/td><\/tr><tr data-start=\"3675\" data-end=\"3793\"><td data-start=\"3675\" data-end=\"3695\" data-col-size=\"sm\">Alagille Sendromu<\/td><td data-start=\"3695\" data-end=\"3715\" data-col-size=\"sm\">Otozomal Dominant<\/td><td data-start=\"3715\" data-end=\"3730\" data-col-size=\"sm\">JAG1 \/ 20p12<\/td><td data-start=\"3730\" data-end=\"3793\" data-col-size=\"md\">Pulmoner Kapak Darl\u0131\u011f\u0131, Periferik Pulmoner Arter Darl\u0131klar\u0131<\/td><\/tr><tr data-start=\"3794\" data-end=\"3929\"><td data-start=\"3794\" data-end=\"3812\" data-col-size=\"sm\">Noonan Sendromu<\/td><td data-start=\"3812\" data-end=\"3832\" data-col-size=\"sm\">Otozomal Dominant<\/td><td data-start=\"3832\" data-end=\"3871\" data-col-size=\"sm\">\u00c7oklu genler \/ 12q24 ili\u015fkili yollar<\/td><td data-start=\"3871\" data-end=\"3929\" data-col-size=\"md\">Displastik Pulmoner Kapak, Hipertrofik Kardiyomiyopati<\/td><\/tr><\/tbody><\/table><\/div><\/div><p data-start=\"3931\" data-end=\"3995\"><strong data-start=\"3931\" data-end=\"3995\">Tablo 4. T<\/strong>ek gen hastal\u0131klar\u0131 ve do\u011fu\u015ftan kalp hastal\u0131klar\u0131.<\/p><hr data-start=\"3997\" data-end=\"4000\" \/><h2 data-section-id=\"6828sn\" data-start=\"4002\" data-end=\"4084\">\u00a0<\/h2><div class=\"TyagGW_tableContainer\"><div class=\"group TyagGW_tableWrapper flex flex-col-reverse w-fit\" tabindex=\"-1\"><table class=\"w-fit min-w-(--thread-content-width)\" data-start=\"4086\" data-end=\"4791\"><thead data-start=\"4086\" data-end=\"4154\"><tr data-start=\"4086\" data-end=\"4154\"><th class=\"last:pe-10\" data-start=\"4086\" data-end=\"4114\" data-col-size=\"sm\">Birliktelik (Association)<\/th><th class=\"last:pe-10\" data-start=\"4114\" data-end=\"4127\" data-col-size=\"lg\">\u00d6zellikler<\/th><th class=\"last:pe-10\" data-start=\"4127\" data-end=\"4154\" data-col-size=\"xl\">S\u0131k G\u00f6r\u00fclen DKH T\u00fcrleri<\/th><\/tr><\/thead><tbody data-start=\"4223\" data-end=\"4791\"><tr data-start=\"4223\" data-end=\"4559\"><td data-start=\"4223\" data-end=\"4232\" data-col-size=\"sm\">CHARGE<\/td><td data-start=\"4232\" data-end=\"4394\" data-col-size=\"lg\"><strong data-start=\"4234\" data-end=\"4239\">C<\/strong>oloboma, <strong data-start=\"4248\" data-end=\"4253\">H<\/strong>eart (Kalp anomalileri), <strong data-start=\"4278\" data-end=\"4283\">A<\/strong>trezia choanae, <strong data-start=\"4299\" data-end=\"4304\">R<\/strong>etardasyon (B\u00fcy\u00fcme\/Geli\u015fim gerili\u011fi), <strong data-start=\"4342\" data-end=\"4347\">G<\/strong>enital anomaliler, <strong data-start=\"4366\" data-end=\"4371\">E<\/strong>ar (Kulak anomalileri)<\/td><td data-start=\"4394\" data-end=\"4559\" data-col-size=\"xl\">Fallot Tetralojisi (TOF), \u00c7ift \u00c7\u0131k\u0131\u015fl\u0131 Sa\u011f Ventrik\u00fcl (DORV), Atriyoventrik\u00fcler Septal Defekt (AVSD), Ventrik\u00fcler Septal Defekt (VSD), Atriyal Septal Defekt (ASD)<\/td><\/tr><tr data-start=\"4560\" data-end=\"4791\"><td data-start=\"4560\" data-end=\"4570\" data-col-size=\"sm\">VACTERL<\/td><td data-start=\"4570\" data-end=\"4730\" data-col-size=\"lg\"><strong data-start=\"4572\" data-end=\"4577\">V<\/strong>ertebral anomaliler, <strong data-start=\"4598\" data-end=\"4603\">A<\/strong>nal atrezi, <strong data-start=\"4615\" data-end=\"4620\">C<\/strong>ardiac anomaliler, <strong data-start=\"4639\" data-end=\"4644\">T<\/strong>rakeo\u00f6zofageal fist\u00fcl, <strong data-start=\"4667\" data-end=\"4672\">R<\/strong>enal\/Radial anomaliler, <strong data-start=\"4696\" data-end=\"4701\">L<\/strong>imb (Ekstremite) anomalileri<\/td><td data-start=\"4730\" data-end=\"4791\" data-col-size=\"xl\">Ventrik\u00fcler Septal Defekt (VSD), Fallot Tetralojisi (TOF)<\/td><\/tr><\/tbody><\/table><\/div><\/div><p data-start=\"4793\" data-end=\"4897\"><strong data-start=\"4793\" data-end=\"4897\">Tablo 5. <\/strong>Do\u011fu\u015ftan kalp hastal\u0131klar\u0131 ve \u00e7oklu malformasyon sendromlar\u0131 ile ili\u015fkileri (associations).<\/p><p data-start=\"4904\" data-end=\"5397\">Son olarak, i\u00e7 organlar\u0131n yerle\u015fim simetrisindeki bozukluklar (laterality bozukluklar\u0131 veya izomerizm sendromlar\u0131) \u00f6zel \u00f6nem ta\u015f\u0131maktad\u0131r. Normalde kar\u0131n i\u00e7i organlar asimetrik bir yerle\u015fim g\u00f6sterir (\u00f6rne\u011fin mide solda, dalak solda, karaci\u011fer sa\u011fda, vena cava inferior sa\u011fda ve desendan aort soldad\u0131r). Benzer \u015fekilde, g\u00f6\u011f\u00fcs i\u00e7i organlar da asimetrik olarak yerle\u015fmi\u015ftir (\u00f6rne\u011fin kalbin g\u00f6\u011f\u00fcs bo\u015flu\u011funda solda bulunmas\u0131, sa\u011f ve sol atriyum ile ventrik\u00fcllerin belirgin \u015fekilde ayr\u0131lm\u0131\u015f olmas\u0131).<\/p><p data-start=\"5399\" data-end=\"5525\" data-is-last-node=\"\" data-is-only-node=\"\">Bu normal laterality d\u00fczenindeki bozukluklar, neredeyse her zaman ciddi do\u011fu\u015ftan kalp hastal\u0131klar\u0131 ile birlikte g\u00f6r\u00fclmektedir.<\/p><p>\u00a0<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Konjenital Kalp Hastal\u0131klar\u0131 (KKH) Konjenital kalp hastal\u0131klar\u0131 (KKH), fetal ya\u015fam s\u0131ras\u0131nda kardiyovask\u00fcler sistemin eksik geli\u015fimi ve olu\u015fumu sonucu ortaya \u00e7\u0131kar. Her zaman do\u011fum an\u0131nda tan\u0131 konulamaz<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":3,"featured_media":-1,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[89,88,79],"tags":[108],"class_list":["post-1595","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-kardiyak-defektler","category-konjenital-defektler","category-obstetrik","tag-konjenital-kalp-hastaliklari"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Konjenital kalp hastal\u0131klar\u0131 - \u0391\u03bb\u03ad\u03be\u03b1\u03bd\u03b4\u03c1\u03bf\u03c2 \u039c\u03ac\u03b9\u03bd\u03b1\u03c2 MD, PhD<\/title>\n<meta name=\"description\" content=\"Konjenital kalp hastal\u0131klar\u0131 (KKH), fetal ya\u015fam s\u0131ras\u0131nda kardiyovask\u00fcler sistemin eksik geli\u015fimi ve olu\u015fumu sonucu ortaya \u00e7\u0131kar. 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