CLINICAL CASE OF THE YOUNG PATIENT WITH ISCHEMIC STROKE AND GENETICALLY CAUSED THROMBOPHILIC PREDISPOSITION

Abstract

We present a clinical case of an ischemic stroke in a young man, 37 years in the setting of severe cardiac pathology (coronary heart disease, repeated myocardial infarctions with a cardiomyopathy and progressing chronic heart failure). This patient had an orthotopic heart transplantation. In a month we observed an intense violation of cerebral blood circulation, the diagnosis was established: an ischemic stroke in the right carotid pool with formation of the advanced area of ischemia in the right frontotemporal and subcortical area. Total condition was complicated with cerebral edema and dislocation syndrome.In the course of diagnostic search this patient demonstrated genetically caused thrombophilic predisposition in the form of gene-mutation of the blood coagulating factor – plasminogen activator inhibitor (PAI - heterozygote), a glycoprotein Ia (ITAG 2 heterozygote), F7 heterozygote; the genetic polymorphism associated with violation of a folate cycle - MTHFR 1298 heterozygote, MTR heterozygote. The revealed mutations in heterozygous state genes with predisposition to thrombophilic complications can serve as a background for disorders in anti-coagulation and coagulation system which can appear at identification the factors starting the mechanism of its development. In a case with this patient, we speak about a secondary thrombophilia as a reason of an ischemic stroke in the setting of cardiac pathology, repeated myocardial infarctions, orthotopic heart transplantation, obesity. All above-mentioned factors allowed to administer reasonable pathogenetically justified antiagregant and anticoagulant therapy, folic acid drugs, group B vitamins for a purpose of secondary prevention of thrombotic complications.

Keywords

• ischemic stroke
• orthotopic cardiac transplantation
• genetically caused thrombophilic predisposition
• gene-mutation