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Related Experiment Video

Updated: Dec 12, 2025

Protocol for Relative Hydrodynamic Assessment of Tri-leaflet Polymer Valves

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Published on: October 17, 2013

Inherited thrombophilia in mechanical valve malfunction.

S Saedi¹, R Yazzaf¹, M Parsaee²

¹Rajaei Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Annales De Cardiologie Et D'Angeiologie

|August 11, 2020

Summary

This summary is machine-generated.

Thrombophilia gene mutations are common in patients with mechanical pulmonary valve thrombosis, even with adequate anticoagulation. This suggests genetic factors significantly contribute to this life-threatening complication.

Keywords:

Genetic Génétique Prosthetic heart valve Thrombophilia Thrombophilie Thrombose Thrombosis Valve cardiaque prothétique

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Last Updated: Dec 12, 2025

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Area of Science:

Cardiology
Genetics
Thrombosis Research

Background:

Mechanical heart valves can malfunction due to thrombosis, a serious complication.
Adequate anticoagulation is crucial but doesn't always prevent thrombosis in prosthetic valves.

Purpose of the Study:

To determine the prevalence of thrombophilia genes in patients with acute mechanical pulmonary valve thrombosis.
To assess the role of genetic predisposition in thrombosis despite therapeutic anticoagulation.

Main Methods:

Cross-sectional comparative study involving 32 patients with acute mechanical pulmonary valve thrombosis.
Assessed International Normalized Ratio (INR) levels and screened for mutations in thrombophilia factor genes.

Main Results:

75% of patients (24/32) exhibited thrombophilia gene mutations.
Common mutations included Plasminogen activator inhibitor-1 (PAI-I) at 50% and Methylenetetrahydrofolate Reductase (MTHFR) at 37.5%.
Prevalence of these mutations was higher than in the general population.

Conclusions:

Thrombophilia gene mutations are highly prevalent in patients experiencing mechanical pulmonary valve thrombosis.
Genetic factors likely play a significant role in the development of thrombosis, necessitating further investigation into personalized anticoagulation strategies.