Isolated myxoid degeneration of aortic valve: diagnostic dilemma

Myxoid degeneration of the aortic valve as a cause of acute aortic valve regurgitation in young age is uncommon. We report a 39-year-old African-American man with a history of epilepsy and hypertension who presented with a 1-month history of worsening shortness of breath. He was diagnosed with acute pulmonary oedema. Transoesophageal echocardiogram showed normal ejection fraction but severe aortic valve insufficiency with small masses on the ventricular side of the right and non-coronary cusps, small vegetations cannot be ruled out but other valves were normal. Subsequent cultures were negative for endocarditis. Myocardial positron emission tomography (PET) scan was strongly suggestive of cardiac sarcoidosis. However, this diagnosis was ruled out as well when he underwent aortic valve replacement with bioprosthetic valve as he did not want to take long-term anticoagulation. Histological examination of the aortic valve showed myxoid degeneration. The patient was doing very well 1 year after the surgery.