Shone's syndrome diagnosed with echocardiography and confirmed at pathology

Area of Science:

• Cardiovascular Medicine
• Pediatric Cardiology
• Medical Pathology

Background:

• Shone's complex is a rare congenital heart defect characterized by four obstructive lesions: supravalvular mitral membrane, parachute mitral valve causing stenosis, subaortic stenosis, and coarctation of the aorta.
• The condition most frequently presents in an incomplete form, making diagnosis and management challenging.

Observation:

• A 19-year-old female presented with severe dyspnea, orthopnea, fever, and productive cough, indicative of bronchopneumonia.
• Echocardiography revealed a complex constellation of cardiac anomalies consistent with Shone's complex: aortic coarctation with bicuspid aortic valves, a mitral supravalvular ring, and dysplastic mitral valves.

Findings:

• The identified mitral valve abnormalities resulted in severe mitral stenosis and secondary severe pulmonary hypertension.
• Despite prompt administration of broad-spectrum antibiotics, the patient rapidly deteriorated, developing severe sepsis.
• Autopsy confirmed the echocardiographic findings of Shone's complex, validating the diagnostic accuracy.

Implications:

• This case underscores the critical importance of early and accurate diagnosis of Shone's complex, even in adult patients presenting with seemingly common respiratory symptoms.
• The severe presentation and rapid decline emphasize the potential for rapid deterioration and high mortality associated with complex congenital heart disease.
• Pathological confirmation reinforces the utility of echocardiography in diagnosing the intricate cardiovascular defects comprising Shone's complex.