European Journal of Biomedical and Pharmaceutical Sciences

EBSTEIN’S ANOMALY WITH SECONDARY ERYTHROCYTOSIS AND SEVERE PULMONARY HYPERTENSION PRESENTING AS ACUTE ISCHEMIC STROKE: A CASE REPORT

*Dr. A. Mari Selvam, Dr. E. Sheik Mohammed Raja, Dr. R. Periasamy, Dr. G. Rathna Kumar

ABSTRACT

Ebstein’s anomaly is a rare congenital cardiac malformation characterised by apical displacement of the tricuspid valve leaflets. When complicated by secondary erythrocytosis, severe pulmonary hypertension, and a hypercoagulable state, it carries an exceptionally high risk of paradoxical embolism and cerebrovascular events. We report a 55-year-old female with a 15-year history of Ebstein’s anomaly and severe pulmonary hypertension who presented with acute altered sensorium, low-grade fever, and passage of loose stools. Clinical examination revealed cyanosis, Grade III pandigital clubbing, pallor, and left hemiparesis. Investigations confirmed secondary erythrocytosis (Hb 22.9 g/dL, HCT 67.6%), a markedly elevated serum erythropoietin of 66 mIU/mL, and a D-dimer of 1500 ng/mL. The platelet count was 1.61 × 10⁵/μL (161,000/μL). Echocardiography demonstrated apical displacement of the tricuspid septal leaflet with a preserved ejection fraction of 51%. MRI Brain revealed multifocal acute and chronic infarcts in bilateral frontoparietal regions, bilateral thalamus, and bilateral cerebellum. The patient was managed with anticoagulation, antiplatelet agents, and supportive therapy, and was successfully discharged following completion of treatment. This case underscores the importance of recognising erythrocytosis-driven hypercoagulability as a precipitant of multifocal ischemic stroke in patients with cyanotic congenital heart disease.

Keywords: Ebstein’s anomaly; Secondary erythrocytosis; Erythropoietin; Pulmonary hypertension; Ischemic stroke; Paradoxical embolism; Hemiparesis; Congenital heart disease.