ArticleJIMD reports2026
Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance.
Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta-synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of impact on aortic pathology. We report the first known case of thoracic aortic dissection in a patient with poorly controlled classical homocystinuria. The patient, a 29-year-old female, was diagnosed in childhood after presenting with Marfanoid features and neurodevelopmental issues, and had persistently elevated homocysteine levels. She had morbid obesity (BMI: 52.7 kg/m
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