Athanasia VlachouGeneral Hospital George Papanikolaou, Greece
Title: Successful surgical treatment of Fabry disease with aortic valve stenosis. A Case Report.
Cardiac involvement is common in Fabry disease. Usually it includes cardiac hypertrophy, decreased left ventricle systolic function, ischaemia and coronary events, arrhythmias and valvular abnormalities. A 50 year old male with Fabry disease was admitted to our department for aortic valve replacement. He was treated with recombinant a-galactosidase enzyme replacement for 14 years. Cardiac workup revealed severe left ventricular hypertrophy, severe aortic stenosis with Peak gradient 120mmHg, moderate aortic regurgitation and moderate mitral stenosis. He underwent mechanical valvular replacement and cardiac biopsy. Histological examination of the aortic valve revealed myxoid degeneration of valve leaflets, while cardiac biopsy showed moderate hypertrophaied myocytes and extensive absence of concentric lamellal bodies of myocytes; a hallmark of Fabry disease. This paper describes a case report of a male patient with Fabry disease and severe aortic stenosis who underwent successful aortic valvular replacement during enzyme replacement therapy