Respir Case Rep. 2013; 2(2): 52-56 | DOI: 10.5505/respircase.2013.64936

Genetik Yatkýnlýk Zemininde Geliþen Eþ Zamanlý Masif Pulmoner Emboli ve Brakiyal Arter Embolisi

Serdar Berk¹, Aslý Bingöl¹, Nurkay Katrancýoðlu², Ömer Tamer Doðan¹, Sulhattin Arslan¹, Ýbrahim Akkurt^1
1Cumhuriyet Üniversitesi Týp Fakültesi, Göðüs Hastalýklarý Ad, Sivas
²Cumhuriyet Üniversitesi Týp Fakültesi, Kalp Damar Cerrahisi Ad., Sivas

Bazý genetik risk faktörlerinin arteriyel ya da venöz tromboz riskini artýrdýðý kesin olarak bilinmesine kar- þýn plazminojen aktivatör inhibitör-1 (PAI-1) ve Angiotensin Converting Enzim (ACE) D/D mutasyonlarýnýn tromboz riskini artýrýp artýrmadýklarý tartýþmalýdýr. Bu yazýda eþ zamanlý masif pulmoner tromboemboli ile brakiyal arter embolisi geliþen ve genetik analizlerde PAI-I, ACE D/D mutasyonu saptanan bir olgu sunulmuþtur. Elli altý yaþýnda erkek hasta göðüs aðrýsý, sol kol aðrýsý, nefes darlýðý ve bayýlma þikâyetleri ile acil servise baþvurdu. Yapýlan muayene ve tetkikleri sonucunda eþzamanlý masif pulmoner tromboemboli ve brakiyal arter embolisi tanýsý kondu. Hastanýn transö- zefageal ekokardiyografisinde intrakardiyak þant saptanmadý. Hasta trombolitik tedavi ve brakiyal arter embolektomi cerrahisi ile düzeldi. Sonuç olarak genetik risk faktörlerinin varlýðýnda eþ zamanlý arteriyel ve venöz embolilerin olabileceði akýlda bulundurulmalý, olasý paradoksal emboliye yönelik intrakardiyak þant araþtýrýlmalýdýr.

Anahtar Kelimeler: Pulmoner emboli, PAÝ-1 mutasyonu, ACE mutasyonu

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Concurrent Massive Pulmonary Embolism and Brachial Artery Embolism in a Genetic Background

Serdar Berk¹, Aslý Bingöl¹, Nurkay Katrancýoðlu², Ömer Tamer Doðan¹, Sulhattin Arslan¹, Ýbrahim Akkurt^1
1Cumhuriyet University Faculty Of Medicine, Department Of Chest Disease, Sivas
²Cumhuriyet University Faculty Of Medicine, Department Of Cardiovascular Surgery, Sivas

While it is well known that some genetic factors definitively increase the risk for arterial or venous thrombosis, it is still controversial whether or not that risk is augmented by plasminogen activator inhibitor 1 (PAI- 1) and angiotensin converting enzyme (ACE) D/D mutations. This study presents a patient with concurrent pulmonary thromboembolism and brachial artery embolism, who showed PAI-1 and ACE D/D mutations in genetic analyses. The patient, a 56-year-old male, presented to the emergency department with complaints of chest pain, pain in the left arm, shortness of breath, and fainting. The physical examination and diagnostic workup revealed concurrent massive pulmonary thromboembolism and brachial artery embolism. Transesophageal echocardiography did not display any intracardiac shunt. The patient recovered with thrombolytic treatment and surgical brachial artery embolectomy. In conclusion, it should be kept in mind that venous and arterial thromboembolism may coincide with the presence of genetic risk factors, and intracardiac shunts should be investigated for possible paradoxical embolism.

Keywords: ACE mutation, PAI-1 mutation, pulmonary embolism

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ATIF KOPYALA