{"id":13044,"date":"2022-12-16T21:10:56","date_gmt":"2022-12-16T18:10:56","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=13044"},"modified":"2023-01-05T11:16:25","modified_gmt":"2023-01-05T08:16:25","slug":"kalp-krizi-ve-genetik-faktorler","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/kalp-krizi-ve-genetik-faktorler\/","title":{"rendered":"KALP KR\u0130Z\u0130 VE GENET\u0130K FAKT\u00d6RLER"},"content":{"rendered":"\n

Bu yaz\u0131mda sizlere kalp krizi y\u00fczeysel olarak nedir ve kalp krizinin arkas\u0131ndaki genetik fakt\u00f6rler nedirden bahsetmeye \u00e7al\u0131\u015faca\u011f\u0131m.<\/p>\n\n\n\n

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https:\/\/blog.ulubat.org\/wp-content\/uploads\/2022\/12\/Depiction_of_a_person_suffering_from_a_heart_attack_28Myocardial_Infarction29.png<\/figcaption><\/figure><\/div>\n\n\n

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https:\/\/upload.wikimedia.org\/wikipedia\/commons\/9\/90\/Coronary_arteries-tr.svg<\/figcaption><\/figure><\/div>\n\n\n

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KALP KR\u0130Z\u0130 NED\u0130R?<\/h2>\n\n\n\n

Kalp krizi di\u011fer adlar\u0131yla kalp enfarkt\u00fcs\u00fc ya da akut myokard enfarkt\u00fcs\u00fc klinikte s\u0131kl\u0131kla MI ( myocardial infarction) olarak tabir edilir. Kalp krizini kalbin koroner arterlerinde t\u0131kan\u0131kl\u0131k ya da a\u015f\u0131r\u0131 daralma nedeniyle kalbin kaslar\u0131na akan kan\u0131n kesilmesi ve bunun sonucunda oksijensiz kalmas\u0131 olarak tan\u0131mlayabiliriz. Oksijensiz kalan kalp kas\u0131 i\u015flevini yerine getiremeyecek ve sonucu \u00f6l\u00fcme kadar varan durumlara sebebiyet verebilecektir. Kolesterol gibi maddeler koroner damarlarda birikerek bir plak olu\u015fturur, bu duruma ateroskleroz denir. Damar\u0131n t\u0131kanmas\u0131na ve a\u015f\u0131r\u0131 daralmas\u0131na neden olan \u015fey de bu aterosklerotik plaklard\u0131r.<\/p>\n\n\n

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Aterosklerotik koroner damar histolojik g\u00f6r\u00fcnt\u00fcs\u00fc. Olu\u015fan pla\u011f\u0131n damar l\u00fcmenini ne kadar daraltt\u0131\u011f\u0131n\u0131 g\u00f6rebiliyoruz.<\/mark><\/strong>
https:\/\/commons.wikimedia.org\/wiki\/File:Histopathology_of_coronary_artery_atherosclerosis,_annotated.jpg<\/figcaption><\/figure><\/div>\n\n
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https:\/\/commons.wikimedia.org\/wiki\/File:Atherosclerosis_2011.jpg<\/figcaption><\/figure><\/div>\n\n\n

Kalp krizi kendini eforla ba\u015flay\u0131p dinlenmeyle yat\u0131\u015fan a\u011fr\u0131 ile belli edebilir. Kalpteki a\u011fr\u0131n\u0131n yerini hasta tarif edemez. Bask\u0131 ve nefes darl\u0131\u011f\u0131 hissedilir. A\u011fr\u0131 kendini \u00f6zellikle sol kol olmak \u00fczere \u00e7ene ya da boyunda da hissettirebilir. Ba\u015f d\u00f6nmesi ve bay\u0131lma hissi de g\u00f6zlenebilir. Bu t\u00fcr \u015fikayetler ile sa\u011fl\u0131k merkezlerine ba\u015fvuran hastalara EKG, anjiyografi ve kan testleri ile tan\u0131 konulur. EKG’de g\u00f6r\u00fclen spesifik dalga g\u00f6r\u00fcnt\u00fcleri tan\u0131 koyma a\u00e7\u0131s\u0131ndan b\u00fcy\u00fck \u00f6neme sahiptir.<\/p>\n\n\n

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Koroner anjiyografi.<\/mark><\/strong>
https:\/\/blog.ulubat.org\/wp-content\/uploads\/2022\/12\/Coronary_Angiography.png<\/figcaption><\/figure><\/div>\n\n\n

Tedavide balon anjiyoplasti y\u00f6ntemiyle balon kateter ile damar geni\u015fletilip stent tak\u0131l\u0131r. Ancak bu y\u00f6ntem \u00e7e\u015fitli sebeplerden dolay\u0131 uygulanamayabilir bu durumda da “by pass” ameliyat\u0131 yap\u0131l\u0131r. K\u0131r\u0131lan plak dolay\u0131s\u0131yla kan ak\u0131m\u0131na \u00f6nemli miktarlarda p\u0131ht\u0131 kar\u0131\u015facakt\u0131r. Bu sebeple hastalara antikoag\u00fclan ila\u00e7lar verilir ve genellikle hasta hayat\u0131 boyunca antikoag\u00fclan ila\u00e7lar kullanmaya devam eder. Kalbi stres alt\u0131nda b\u0131rakmamaya bundan sonraki s\u00fcre\u00e7te hasta \u00e7ok dikkat etmelidir. Adrenalin seviyesini y\u00fckseltecek olaylardan ka\u00e7\u0131nmal\u0131d\u0131r ve sigara gibi zararl\u0131 al\u0131\u015fkanl\u0131klar\u0131n\u0131 katiyen terk etmelidir.<\/p>\n\n\n\n

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Koroner artere stent tak\u0131lmas\u0131 i\u015flemi. <\/mark>
https:\/\/commons.wikimedia.org\/wiki\/File:PTCA_stent_NIH.gif<\/figcaption><\/figure><\/div>\n\n\n

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KALP KR\u0130Z\u0130 VE GENET\u0130K FAKT\u00d6RLER<\/h2>\n\n\n\n

MI ile ili\u015fkisi bulunmu\u015f 11 kromozom segmentinden sadece 2 tanesi al\u0131\u015f\u0131lagelmi\u015f risk fakt\u00f6rleri (LDL kolesterol ve Lipoprotein A) ile ili\u015fkide oldu\u011fu i\u00e7in tam olarak bu segmentlerin patolojik durumun ortaya \u00e7\u0131kmas\u0131nda nas\u0131l bir mekanizma ile etki etti\u011fini hen\u00fcz bilmiyoruz.<\/p>\n\n\n\n

MI (miyokard enfarkt\u00fcs\u00fc) riski \u00fczerindeki en kuvvetli genetik etkiyi, 9p21.3 kromozomu \u00fczerindeki bir segment yapar. Miyokard enfarkt\u00fcs\u00fc i\u00e7in bu risk fakt\u00f6r\u00fc 2010 y\u0131l\u0131na kadar 45.000’den fazla vakada ve 85.000 kontrolde tekrarlanm\u0131\u015ft\u0131r. \u0130lgin\u00e7 bir \u015fekilde, bu kromozom b\u00f6lgesi bir proteini kodlayan herhangi bir gen i\u00e7ermemektedir. Altta yatan patojenetik mekanizma gizemini koruyor. Avrupal\u0131 birinin 9p21.3 kromozomu y\u00f6n\u00fcnden heterozigot risk aleli ta\u015f\u0131y\u0131c\u0131s\u0131 olma olas\u0131l\u0131\u011f\u0131 %50 homozigot risk aleli ta\u015f\u0131y\u0131c\u0131s\u0131 olma olas\u0131l\u0131\u011f\u0131 %25’tir. Yani asl\u0131nda Avrupal\u0131 ve bu risk fakt\u00f6rlerine sahip olmayan ki\u015filer az\u0131nl\u0131ktad\u0131r diyebiliriz. Bireysel d\u00fczeyde etkilenen kromozom segmentlerinin MI riski \u00fczerinde pozitif etkisi vard\u0131r bu her risk aleli i\u00e7in  %10 ile %30 aras\u0131nda de\u011fi\u015fir. Bu da demektir ki \u00f6rne\u011fin, Avrupa pop\u00fclasyonunun %25’ine denk gelen homozigot olarak 9p21.3 kromozu \u00fczerinde bu risk alelini bar\u0131nd\u0131ran ki\u015filerin yine Avrupa pop\u00fclasyonunun %25’ine denk gelen hi\u00e7 risk aleli ta\u015f\u0131mayan ki\u015filere g\u00f6re MI ge\u00e7irme olas\u0131l\u0131\u011f\u0131 kabaca %60 daha y\u00fcksektir. Bireysel bak\u0131ld\u0131\u011f\u0131nda risk art\u0131\u015f\u0131 nispeten az olmas\u0131na ra\u011fmen, risk alellerinin y\u00fcksek frekans\u0131, t\u00fcm pop\u00fclasyon d\u00fczeyinde MI insidans\u0131nda b\u00fcy\u00fck bir art\u0131\u015fa yol a\u00e7ar. \u00d6rne\u011fin, 40 ila 45 ya\u015flar\u0131 aras\u0131ndaki 9p21.3 kromozomu \u00fczerindeki risk alelinin bir milyon homozigot ta\u015f\u0131y\u0131c\u0131s\u0131 aras\u0131nda %0,6’l\u0131k mutlak risk art\u0131\u015f\u0131 on y\u0131ll\u0131k bir s\u00fcre i\u00e7inde 6000 ek kalp krizine yol a\u00e7ar. S\u0131kl\u0131kla GWA ( genome wide associatiom) y\u00f6nteminin kullan\u0131ld\u0131\u011f\u0131 bu t\u00fcr \u00e7al\u0131\u015fmalarda elde edilen veriler hastal\u0131\u011f\u0131n ve tedavisinin bug\u00fcn\u00fcnden \u00e7ok yar\u0131n\u0131na \u0131\u015f\u0131k tutmay\u0131 planlamaktad\u0131r. Genetik biliminin \u00f6ng\u00f6r\u00fcc\u00fc \u00f6zelli\u011finin yava\u015f yava\u015f ke\u015ffedilmesi ve \u00f6neminin anla\u015f\u0131lmas\u0131 paralelinde bu konulardaki \u00e7al\u0131\u015fmalar artmaktad\u0131r. Geli\u015fen bu \u00f6ng\u00f6r\u00fc mekanizmalar\u0131 sayesinde hastal\u0131klar\u0131n hi\u00e7 ba\u015flamadan \u00f6nlenmesi ve risk alt\u0131nda bulunan ki\u015filerin risklerden haberdar edilip buna g\u00f6re bir ya\u015fam d\u00fczeni kurmalar\u0131 bu t\u00fcr hastal\u0131klarla ba\u015f etme konusunda ileride b\u00fcy\u00fck \u00f6neme sahip olacakt\u0131r.<\/p>\n\n\n\n

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Kromozom Segmentleri<\/td>Risk Art\u0131\u015f\u0131na Neden Olan Alelin Avrupal\u0131larda G\u00f6r\u00fclme S\u0131kl\u0131\u011f\u0131<\/td>Geleneksel Risk Fakt\u00f6rleri \u0130le \u0130li\u015fki<\/td>Fonksiyon\/Etki<\/td><\/tr>
1p13.3<\/td>77%<\/td>LDL<\/td>LDL Art\u0131\u015f\u0131<\/td><\/tr>
1q41<\/td>72%<\/td>–<\/td>Kollajenler \u00dczerinden<\/td><\/tr>
2q33<\/td>14%<\/td>–<\/td>Apoptozis<\/td><\/tr>
3q22.3<\/td>15%<\/td>–<\/td>Adezyon Sinyali<\/td><\/tr>
6p24<\/td>65%<\/td>–<\/td>Koroner Kalsifikasyon<\/td><\/tr>
6q26\u201327<\/td>18%<\/td>Lipoprotein A<\/td>Lipoprotein A<\/td><\/tr>
9p21.3<\/td>52%<\/td>–<\/td>Bilinmiyor<\/td><\/tr>
10q11<\/td>84%<\/td>–<\/td>\u0130nflamasyon<\/td><\/tr>
12q24<\/td>34%<\/td>–<\/td>Bilinmiyor<\/td><\/tr>
12q24.3<\/td>36%<\/td>–<\/td>Bilinmiyor<\/td><\/tr>
21q22<\/td>13%<\/td>–<\/td>Bilinmiyor<\/td><\/tr><\/tbody><\/table>
Tablodaki veriler GWA y\u00f6ntemi ile haz\u0131rlanm\u0131\u015f olup https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2965371\/ adresinden al\u0131nm\u0131\u015ft\u0131r ve verilerin elde edildi\u011fi \u00e7al\u0131\u015fmalar\u0131n kaynak\u00e7alar\u0131 referans olarak bu yaz\u0131n\u0131n “Kaynak\u00e7a” k\u0131sm\u0131nda bulunmaktad\u0131r.<\/mark><\/strong><\/figcaption><\/figure>\n<\/div>\n<\/div>\n<\/div><\/div>\n<\/div>\n<\/div>\n<\/div><\/div>\n<\/div><\/div>\n<\/div>\n<\/div>\n<\/div><\/div>\n<\/div>\n<\/div>\n\n\n\n

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KAYNAK\u00c7A<\/h2>\n\n\n\n

\u00dcner S, Balc\u0131lar M. T\u00fcrkiye Hanehalk\u0131 Sa\u011fl\u0131k Ara\u015ft\u0131rmas\u0131: Bula\u015f\u0131c\u0131 Olmayan Hastal\u0131klar\u0131n Risk Fakt\u00f6rleri Prevalans\u0131 2017 (STEPS). Ankara, D\u00fcnya Sa\u011fl\u0131k \u00d6rg\u00fct\u00fc T\u00fcrkiye Ofisi, 2018:2.<\/em><\/p>\n\n\n\n

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Berg DD, Wiviott SD, Braunwald E, Guo J, Im K, Kashani A, Gibson CM, Cannon CP, Morrow DA, Bhatt DL, Mega JL, O’Donoghue ML, Antman EM, Newby LK, Sabatine MS, Giugliano RP. Modes and timing of death in 66\u2009252 patients with non-ST-segment elevation acute coronary syndromes enrolled in 14 TIMI trials. Eur Heart J. 2018 Nov 7;39(42):3810-3820. doi: 10.1093\/eurheartj\/ehy556. PMID: 30239711; PMCID: PMC6220126.<\/p>\n\n\n\n

Deng D, Liu L, Xu G, Gan J, Shen Y, Shi Y, Zhu R, Lin Y. Epidemiology and Serum Metabolic Characteristics of Acute Myocardial Infarction Patients in Chest Pain Centers. Iran J Public Health. 2018 Jul;47(7):1017-1029. PMID: 30182001; PMCID: PMC6119561.<\/p>\n\n\n\n

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Civek S. ve Akman M. D\u00fcnyada ve T\u00fcrkiye\u2019de kardiyovask\u00fcler hastal\u0131klar\u0131n s\u0131kl\u0131\u011f\u0131 ve riskin de\u011ferlendirilmesi. Jour Turk Fam Phy 2022; 13 (1): 21-28. Doi: 10.15511\/tjtfp.22.00121.<\/em><\/p>\n\n\n\n

Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, Dixon RJ, Meitinger T, Braund P, Wichmann HE, Barrett JH, K\u00f6nig IR, Stevens SE, Szymczak S, Tregouet DA, Iles MM, Pahlke F, Pollard H, Lieb W, Cambien F, Fischer M, Ouwehand W, Blankenberg S, Balmforth AJ, Baessler A, Ball SG, Strom TM, Braenne I, Gieger C, Deloukas P, Tobin MD, Ziegler A, Thompson JR, Schunkert H; WTCCC and the Cardiogenics Consortium. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007 Aug 2;357(5):443-53. doi: 10.1056\/NEJMoa072366. Epub 2007 Jul 18. PMID: 17634449; PMCID: PMC2719290.<\/p>\n\n\n\n

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https:\/\/tr.wikipedia.org\/wiki\/Kalp_krizi<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Kalp krizi di\u011fer adlar\u0131yla kalp enfarkt\u00fcs\u00fc ya da akut myokard enfarkt\u00fcs\u00fc klinikte s\u0131kl\u0131kla MI ( myocardial infarction) olarak tabir edilir. Kalp krizini kalbin koroner arterlerinde t\u0131kan\u0131kl\u0131k ya da a\u015f\u0131r\u0131 daralma nedeniyle kalbin kaslar\u0131na akan kan\u0131n kesilmesi ve bunun sonucunda oksijensiz kalmas\u0131 olarak tan\u0131mlayabiliriz. Oksijensiz kalan kalp kas\u0131 i\u015flevini yerine getiremeyecek ve sonucu \u00f6l\u00fcme kadar varan durumlara sebebiyet verebilecektir.<\/p>\n","protected":false},"author":1139,"featured_media":13305,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1,2173],"tags":[73,149,115,91,2394,2398,2397,265,66],"acf":[],"views":462,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/13044"}],"collection":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/users\/1139"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=13044"}],"version-history":[{"count":13,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/13044\/revisions"}],"predecessor-version":[{"id":13355,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/13044\/revisions\/13355"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/13305"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=13044"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=13044"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=13044"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}