Abstract
Introduction. Congenital malformations of the mitral valve encompass a broad spectrum of lesions, with an incidence of approximately 0.4% among patients with congenital heart diseases. Case Report. A 45-year-old female was admitted to our institution due to a confirmed mitral valve defect identified via echocardiographic examination. She presented with leg swelling and rapid fatigue. Her medical history includes systemic lupus erythematosus. Upon admission, she was in cardiopulmonary decompensation, with a systolic murmur detected in the mitral valve area, radiating towards the axilla. Transesophageal echocardiographic revealed severe mitral stenosis with moderate regurgitation, without clear visualization of the two cusps. Cardiac computed tomography confirmed a voluminous anterior mitral cusp and a hypoplastic posterior cusp, observed in diastole as a crescent-shaped, characteristic of a unicuspid mitral valve. Follow-up echocardiographic showed progression of mitral regurgitation with circumferential pericardial effusion, necessitating pericardiocentesis. Due to further hemodynamic instability, urgent surgical mitral valve replacement was indicated. The surgery proceeded without complications, but the immediate period was marked by exacerbation of renal impairment, requiring hemodiafiltration on several occasions. Following cardiological stabilization, the patient was transferred to the Nephrology Clinic for further management of renal insufficiency and systemic lupus. Conclusion. It is crucial to emphasize the significance of a multidisciplinary approach for each patient, with particular emphasis on detailed imaging diagnostics to definitively establish a congenital heart disease diagnosis.
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