Combination of factor V Leiden and MTHFR mutations in myocardial infarction

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 thromboprophylaxis and in asymptomatic relatives of patients.