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.