title: Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Cardiothoracic Sciences, University of Naples S.U.N. and Unit of Infectious and Transplant Medicine, A.O.R.N. 'V. Monaldi', Naples, Italy. emanuele.durante@unina2.it
authors.forename: Emanuele
authors.initials: E
authors.lastname: Durante-Mangoni
authors.forename: Domenico
authors.initials: D
authors.lastname: Iossa
authors.forename: Felice
authors.initials: F
authors.lastname: Nappi
authors.forename: Riccardo
authors.initials: R
authors.lastname: Utili
mesh_terms: D000328:Adult; D004696:Endocarditis / Q000097:blood / Q000209:etiology*; D006487:Hemostasis; D040941:Heredity; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000150:complications* / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D013927:Thrombosis / Q000097:blood / Q000209:etiology*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)