The Journal of heart valve disease · 2011
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis.
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Durante-Mangoni Emanuele, Iossa Domenico, Nappi Felice, Utili Riccardo
Аннотация
BACKGROUND AND AIM OF THE STUDY: Despite high rates of valve disease, non-bacterial thrombotic endocarditis remains an uncommon condition, the individual susceptibility to which might be influenced by an inherited thrombophilic state.
METHODS: A comprehensive hemostasis study was conducted in a 17-year-old patient with definite nonbacterial thrombotic endocarditis, including a genetic screening for all major inherited thrombophilias.
RESULTS: Non-bacterial thrombotic endocarditis was detected on a bicuspid aortic valve. A hemostasis work-up showed that the patient had severe hyperhomocysteinemia, and was homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene.
CONCLUSION: Based on the present clinical case, a novel hypothesis was proposed that the pathophysiology of non-bacterial thrombotic endocarditis might be affected by a genetic predisposition, such as an inherited thrombophilic state.
METHODS: A comprehensive hemostasis study was conducted in a 17-year-old patient with definite nonbacterial thrombotic endocarditis, including a genetic screening for all major inherited thrombophilias.
RESULTS: Non-bacterial thrombotic endocarditis was detected on a bicuspid aortic valve. A hemostasis work-up showed that the patient had severe hyperhomocysteinemia, and was homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene.
CONCLUSION: Based on the present clinical case, a novel hypothesis was proposed that the pathophysiology of non-bacterial thrombotic endocarditis might be affected by a genetic predisposition, such as an inherited thrombophilic state.