• 제목/요약/키워드: MTHFR mutation

검색결과 13건 처리시간 0.016초

Intracardiac Thrombosis Involving All Four Cardiac Chambers after Extracardiac Membranous Oxygenation Associated with MTHFR Mutations

  • Kim, Bong Jun;Song, Seung Hwan;Shin, Yu Rim;Park, Han Ki;Park, Young Hwan;Shin, Hong Ju
    • Journal of Chest Surgery
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    • 제49권3호
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    • pp.207-209
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    • 2016
  • A 4-month-old boy diagnosed with acute myocarditis was treated with extracorporeal membrane oxygenation (ECMO). Follow-up echocardiography eight hours after ECMO revealed intracardiac thrombosis involving all four heart chambers. Because of the high risk of systemic embolization due to a pedunculated thrombus of the aortic valve, we performed an emergency thrombectomy. After the operation, the patient had a minor neurologic sequela of left upper arm hypertonia, which had almost disappeared at the last outpatient clinic two months later. He was diagnosed with a major mutation in MTHFR (methylenetetrahydrofolate reductase), which is related to thrombosis.

MTHFR의 점돌연변이로 인한 과호모시스테인혈증 환자에서 발생한 폐색전증 2예 (Two Cases of Pulmonary Thromboembolism in Young Patients with Hyperhomocysteinemia)

  • 이욱현;박철홍;고훈영;안호정;권순석;김용현
    • Tuberculosis and Respiratory Diseases
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    • 제64권6호
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    • pp.460-465
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    • 2008
  • 저자들은 비교적 젊은 연령이며 호모시스테인혈증이 있는 환자들에서 발생한 폐혈전색전증 및 심부정맥혈전증 2예를 문헌과 함께 고찰하였다. 폐혈전색전증이 연령이 증가할수록 발생률이 증가한다는 점과 다른 위험요소가 존재하지 않는다는 점으로 보아 증례들에서 호모시스테인혈증이 폐혈전색전증을 일으킨 원인으로 보인다. 위험요소가 없으며 젊은 연령에서 생긴 폐혈전색전증에 있어 호모시스테인혈증을 원인의 하나로 고려하여야 할 것이다.