title: Combination of factor V Leiden and MTHFR mutations in myocardial infarction.
abstract: Identifying patients who are at high risk of suffering myocardial infarction can be done by determining risk factors or by the adoption of molecular genetic testing for inherited thrombophilia. We report a case of myocardial infarction at a young age. The patient complained of dyspnea (stage III) and a burning pain of severe intensity that radiated to the left retrosternal side, but was not associated with palpitations or diaphoresis. A number of biochemical parameters were normal except for an elevated creatinine phosphokinase (CPK) level. Genetic testing revealed the subject to be heterozygous for both the factor V leiden and MTHFR C677T polymorphisms. The combination of these two mutations may be a high risk factor for myocardial infarction. Genetic screening for inherited thrombophilia in young patients, especially in the presence of a common risk factor, may be useful for primary thrombopro.phylaxis and in asymptomatic relatives of patients.
authors: Laboratory of Molecular Biology, Department of Hematology, Military Hospital, 1008 Mont Fleury, Tunis, Tunisia. fnajiba@yahoo.fr
authors: Najiba
authors: N
authors: Fekih-Mrissa
authors: Dhouha
authors: D
authors: Berredjeb-Benslama
authors: Abdeddayem
authors: A
authors: Haggui
authors: Habib
authors: H
authors: Haouala
authors: Nasreddine
authors: N
authors: Gritli
mesh_terms: D005165:Factor V / Q000235:genetics*; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009203:Myocardial Infarction / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)