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Published on: August 8, 2022
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis
Emanuele Durante-Mangoni1, Domenico Iossa, Felice Nappi
1Department 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
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.
Related Concept Videos
Endocarditis I: Introduction
Endocarditis II: Clinical Features of Infective Endocarditis
Rheumatic Heart Disease I: Introduction
Myocarditis I: Introduction
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Venous Thrombosis I: Introduction
