The Importance of Molecular Autopsy at Sudden Cardiac Deaths

Yıl 2016, Cilt: 30 Sayı: 2, 162 - 169, 31.08.2016

Yavuz Şahin Recep Fedakar Ertuğrul Gök Aşkın Şen Celal Akdeniz Volkan Tuzcu Kadir Demircan

https://izlik.org/JA68BC22SM

Öz

Sudden cardiac deaths are an important cause of deaths in healthy adults. In generally, the cause of sudden cardiac death cannot be determined with forensic medicine methods. Post mortem genetic tests known as molecular autopsy showed the inherited genetic disorders causing sudden cardiac deaths significance. Myocardial disease as hypertrophic cardiomyopathy and channelopathies as long QT syndrome can be an example of the genetic disorders causing sudden cardiac deaths. Because of inheritance pattern of that genetic disorders must be taken into consideration for at risk family members. In sudden cardiac death cases where no cause of death is identified at postmortem rutin toxicological and pathological examination, coupled with genetic testing of postmortem blood in a specialized multidisciplinary clinic setting, are critical for diagnosis. After establishing a final diagnosis, preventing genetic sudden cardiac events in surviving relatives is necessary. Imaging technologies and advances in the world of genetics may refine diagnostic process for sudden cardiac deaths.

Anahtar Kelimeler

Autopsy , sudden cardiac death , molecular autopsy

Ani Kardiyak Ölümlerde Moleküler Otopsinin Önemi

https://izlik.org/JA68BC22SM

Öz

Ani kardiyak ölümler, sağlıklı genç yaştaki kişilerdeki ölümlerin önemli bir nedenidir. Adli otopsi uygulamaları ile ani kardiyak ölümün nedeni sıklıkla saptanamamaktadır. Ölüm sonrası post mortem yapılan genetik testler moleküler otopsi olarak adlandırılmaktadır ve moleküler otopsi ani kardiyak ölüme neden olan genetik geçişli hastalıkların önemini göstermiştir. Ani kardiyak ölümlere neden olan genetik hastalıklara hipertrofik kardiyomiyopati gibi miyokardiyal hastalıklar ve uzun QT sendromu gibi kanalopatiler örnek verilebilir. Bu tür genetik geçişli hastalıklar kalıtım özellikleri nedenleriyle risk altındaki akrabaları için dikkate alınmalıdır. Ani kardiyak ölümlerde, postmortem rutin toksikolojik ve patolojik inceleme ile herhangi bir ölüm nedeni saptanamadığında, postmortem kandan genetik testler ile birlikte özel multidisipliner yaklaşım tanı için kritiktir. Kesin tanı konulduktan sonra vakanın yaşayan akrabalarını genetik kökenli ani kardiyak ölüm olaylarına karşı korumak gereklidir. Görüntüleme teknolojisindeki ve genetik dünyasındaki gelişmeler ani kardiyak ölümlerin tanısal sürecini kolaylaştıracaktır.

Anahtar Kelimeler

Otopsi , ani kardiyak ölüm , moleküler otopsi

Kaynakça

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