Spontaneous mitral valve anterior leaflet perforation

A 22-year-old man without past medical history had gradually developed exercise intolerance and exertional dyspnoea. Physical examination revealed a 4/6 apical systolic murmur radiating to the axilla. Electrocardiogram was normal. Transthoracic echocardiography showed a bicuspid aortic valve with severe eccentric regurgitation (AR) pointing at the anterior mitral leaflet (AML) and a severe mitral regurgitation (MR) apparently originating from the AML. Three dimensional transoesophageal echocardiography confirmed these findings (PanelsA  and B, respectively) and revealed a round 8 mm hole in the AML (yellow arrows) without any further structural abnormalities of the valve. Coronary computed tomography was normal. The patient underwent surgical reconstruction of the aortic and the mitral valve (Panel D). Microbiological culture, pan-bacterial polymerase chain reaction, and histopathological analysis were negative.

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