Difficulties in diagnosing the causes of stroke and myocardial infarction in young people: A clinical case study

Recently, the number of myocardial infarctions and strokes in young patients has been increasing. Most often these are non-atherogenic causes: congenital heart defects, coagulopathies, arteritis, etc. To discuss the difficulties of diagnosing the causes of strokes and myocardial infarctions in young patients, we present a clinical case of a 39-year-old patient with atrial septal defect and genetic thrombophilia, which resulted in myocardial infarction and embolic stroke. A special feature of this clinical case can be considered the fact of the development of embolic myocardial infarction during pregnancy in a patient with atrial septal defect surgery in childhood. However, the study on thrombophilia was not complete after a miscarriage during the first pregnancy. Suspicions of the formation of a right-left shunt were confirmed upon hospitalization due to embolic myocardial infarction. After cesarean delivery, endovascular occlusion of the atrial septal defect with an occluder was performed, and 4 years after the installation of the occluder, the patient developed an embolic stroke, as evidenced by the multiplicity of ischemic foci of the brain during imaging studies. Examination for thrombophilia after a repeated ischemic event revealed homozygous mutations in factor VII (A/A), FGB (A/A), heterozygous mutations in folate cycle genes (C/T polymorphism in the MTHFR gene, A/G polymorphism in the MTR gene), heterozygous polymorphism in the PAI-1 gene (4G/5G). The hematologist recommended constant anticoagulant therapy rivaroxaban at a dose of 2.5 mg 2 times a day. The described clinical case demonstrates the polyethology and complexity of the pathogenetic mechanisms of myocardial infarction and stroke in a young patient. If these events occur in young people, it is important to perform echocardiography (with a bubble test, if necessary), daily monitoring of electrocardiography, and laboratory examination for thrombophilia.