Methylenetetrahydrofolate reductase polymorphism in a case with atrial septal defect, deep venous thrombosis, thromboembolism and recurrent spontaneous abortion

Adem Güler,

doi:10.5606/tgkdc.dergisi.2012.177

Adem Güler¹, Mehmet Ali Şahin¹, Murat Tavlaşoğlu¹, Mehmet Yokuşoğlu²

¹Department of Cardiovascular Surgery, Gülhane Military Medical School, Ankara, Turkey
²Department of Cardiology, Gülhane Military Medical School, Ankara, Turkey

DOI : 10.5606/tgkdc.dergisi.2012.177

Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate metabolism, where homocysteine converted to methionine. Methylenetetrahydrofolate reductase gene polymorphism is responsible for hyperhomocysteinemia resulting congenital heart defects, hypercoagulable states and recurrent abortion. A 30-yearold female was referred to our department with the diagnosis of atrial septal defect. In her medical history, she had two pregnancies with spontaneous abortus, deep venous thrombosis attacks, pulmonary thromboembolism and paradoxical cerebral embolus. The genetic workup revealed heterozygote MTHFR C677T mutation. We recommend suspecting MTHFR polymorphism in young fertile women with a history of spontaneous abortus or deep venous thrombosis or congenital heart disease with a paradoxical cerebral embolus.

Keywords : Atrial septal defect; deep venous thrombosis; methylenetetrahydrofolate reductase; spontaneous abortion; thromboembolism

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