{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,8]],"date-time":"2026-11-08T03:20:19Z","timestamp":1794108019297,"version":"4.8.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:00:00Z","timestamp":1769817600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008122","name":"Institute of Information & Communications Technology Planning & Evaluation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008122","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019403","name":"Information Technology Research Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019403","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["IITP-2025-RS-2024-00437718"],"award-info":[{"award-number":["IITP-2025-RS-2024-00437718"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["25075"],"award-info":[{"award-number":["25075"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["25012"],"award-info":[{"award-number":["25012"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002456","name":"Chonnam National University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002456","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Hyperhomocysteinemia is a well-established risk factor for arterial and venous thromboembolism. Among the various aetiologies, a homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene impairs the remethylation of homocysteine, promoting a prothrombotic milieu. However, simultaneous manifestations of pulmonary thromboembolism and aortic thrombosis remain exceedingly rare and clinically underrecognized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>We report a case of a 58-year-old male who presented with acute dyspnoea. Chest computed tomography angiography revealed bilateral pulmonary thromboembolisms and extensive mural thrombi in the thoracic and abdominal aorta. Laboratory findings demonstrated markedly elevated plasma homocysteine (&amp;gt;50\u2005\u00b5mol\/L) and a folate deficiency, and genetic analysis confirmed homozygosity for the MTHFR C677T mutation. The patient also had a history of acute myocardial infarction and ischaemic stroke suggestive of a chronic thrombotic diathesis. The patient was managed with intravenous anticoagulation and daily supplementation with vitamin B6 and folate, with gradual clinical improvement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This case highlights the systemic thrombotic consequences of inherited hyperhomocysteinemia caused by a homozygous MTHFR C677T mutation. In the absence of conventional risk factors, the coexistence of arterial and venous thromboses underscores the importance of the early detection of genetic predispositions in patients with unexplained or recurrent thromboembolic events. Targeted metabolic correction, including folate repletion, may help attenuate the residual vascular risk in this subset of patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytag026","type":"journal-article","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T12:46:55Z","timestamp":1769777215000},"source":"Crossref","is-referenced-by-count":1,"title":["Pulmonary thromboembolism and aortic thrombosis due to severe hyperhomocysteinemia with MTHFR C677T mutation: a case report"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6193-2982","authenticated-orcid":false,"given":"Seok","family":"Oh","sequence":"first","affiliation":[{"name":"Department of Cardiology, Chonnam National University Hospital, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3186-0770","authenticated-orcid":false,"given":"Ju Han","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Chonnam National University Hospital, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]},{"name":"Department of Cardiology, Chonnam National University Medical School, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0192-8161","authenticated-orcid":false,"given":"Young Joon","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Chonnam National University Hospital, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]},{"name":"Department of Cardiology, Chonnam National University Medical School, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2022-9366","authenticated-orcid":false,"given":"Youngkeun","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Chonnam National University Hospital, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]},{"name":"Department of Cardiology, Chonnam National University Medical School, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2424-810X","authenticated-orcid":false,"given":"Myung Ho","family":"Jeong","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Chonnam National University Hospital, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]},{"name":"Department of Cardiology, Chonnam National University Medical School, 42 Jebong-ro, Dong-gu, Gwangju 61469 ,","place":["South Korea"]},{"name":"Cardiovascular Center, Gwangju Veterans Hospital, 99 Cheomdanwolbong-ro, Gwangju 62284 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"2026021911462744200_ytag026-B1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10545-016-9991-4","article-title":"Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","volume":"40","author":"Huemer","year":"2017","journal-title":"J Inherit Metab Dis"},{"key":"2026021911462744200_ytag026-B2","doi-asserted-by":"crossref","first-page":"281","DOI":"10.3988\/jcn.2014.10.4.281","article-title":"Hyperhomocysteinemia and neurologic disorders: a review","volume":"10","author":"Ansari","year":"2014","journal-title":"J Clin Neurol"},{"key":"2026021911462744200_ytag026-B3","doi-asserted-by":"crossref","first-page":"e6","DOI":"10.1161\/CIRCULATIONAHA.114.013311","article-title":"Homocysteine and MTHFR mutations","volume":"132","author":"Moll","year":"2015","journal-title":"Circulation"},{"key":"2026021911462744200_ytag026-B4","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1001\/archinte.158.19.2101","article-title":"Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease","volume":"158","author":"Ray","year":"1998","journal-title":"Arch Intern Med"},{"key":"2026021911462744200_ytag026-B5","doi-asserted-by":"crossref","first-page":"e289","DOI":"10.1161\/01.CIR.0000165142.37711.E7","article-title":"Cardiology patient pages. 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