A case of myocardial infarction in a young patient with combination of factor V Leiden and MTHFR gene mutation
Date Issued
2022-11
Author(s)
Zafirovska B
Dimitrovska B
Bede I
Tomeski S
Kostova N
Otljanska M
Abstract
Introduction: Inherited thrombophilia due to a combination of factor V Leiden and MTHFR
gene mutation leads to a hypercoagulable state resulting in thromboembolic events and arterial
thrombosis.
Case report: We present a case of a 35-year-old male patient who presented to the emergency
room with intensive chest pain that started 2 hours ago while he was cycling for a distance of
11km. The ECG showed ST segment elevation of 3mm in the inferior leads. An emergent
coronary angiography was indicated which showed thrombotic formations in the proximal right
coronary artery (RCA), rPDA and RPL without atherosclerotic plaques. Percutaneous coronary
intervention with plain old balloon angioplasty (PCI/ POBA) and thromboaspiration was
performed, which was followed by tirofiban infusion and continuous infusion of unfractionated
heparin for 24 hours. The molecular genetic analysis revealed the patient to be heterozygous for
factor V Leiden and homozygous for methylenetetrahydrofolate reductase (MTHFR) C677T
gene mutation. After completing the required clinical examinations, the patient was discharged in
a good clinical condition with a recommendation for medical treatment including a prophylactic
dose of direct oral anticoagulant. After a one-year follow-up, the patient had no symptoms or
recurrent cardiovascular events.
Conclusion: Inherited thrombophilia is а significant risk factor for coronary artery disease and
performing genetic testing in younger patients with a cardiovascular event, plays an important
role for adequate treatment and prophylaxis from recurrent complications. Although individual
patient consideration is recommended, the use of oral anticoagulation for prophylaxis is shown to
be effective in these patients. However, further studies are needed for the indications and
duration of prophylactic anticoagulation in patients with inherited thrombophilia after an arterial
thrombotic event.
gene mutation leads to a hypercoagulable state resulting in thromboembolic events and arterial
thrombosis.
Case report: We present a case of a 35-year-old male patient who presented to the emergency
room with intensive chest pain that started 2 hours ago while he was cycling for a distance of
11km. The ECG showed ST segment elevation of 3mm in the inferior leads. An emergent
coronary angiography was indicated which showed thrombotic formations in the proximal right
coronary artery (RCA), rPDA and RPL without atherosclerotic plaques. Percutaneous coronary
intervention with plain old balloon angioplasty (PCI/ POBA) and thromboaspiration was
performed, which was followed by tirofiban infusion and continuous infusion of unfractionated
heparin for 24 hours. The molecular genetic analysis revealed the patient to be heterozygous for
factor V Leiden and homozygous for methylenetetrahydrofolate reductase (MTHFR) C677T
gene mutation. After completing the required clinical examinations, the patient was discharged in
a good clinical condition with a recommendation for medical treatment including a prophylactic
dose of direct oral anticoagulant. After a one-year follow-up, the patient had no symptoms or
recurrent cardiovascular events.
Conclusion: Inherited thrombophilia is а significant risk factor for coronary artery disease and
performing genetic testing in younger patients with a cardiovascular event, plays an important
role for adequate treatment and prophylaxis from recurrent complications. Although individual
patient consideration is recommended, the use of oral anticoagulation for prophylaxis is shown to
be effective in these patients. However, further studies are needed for the indications and
duration of prophylactic anticoagulation in patients with inherited thrombophilia after an arterial
thrombotic event.
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