No abstract

No abstract

No abstract

Background: Alkaptonuria is a rare autosomal genetic anomaly of the metabolism of tyrosine, and is characterized by the accumulation of homogentisic acid in the extracellular matrix with destruction of numerous tissues. Ocronosis is rarely associated with abnormalities of the cardiovascular system. The most common clinical manifestation is aortic valve stenosis. There is no specific therapy for alkaptonuria, limiting itself to the treatment of only the complications of the pathology. Methods: We report the case of a 69-year-old patient diagnosed with ochronosis following the detection of skin and scleral pigmentations. The patient was sent to our center with indication to replace the aortic valve for severe aortic stenosis after syncope episode. Results: Surgical intervention, the opening of the aorta, it is detected an abnormal blue-black pigmentation intima of the ascending aorta and aortic root with across where the flaps of the aortic valve and the anterior leaflet of the mitral valve. The aortic valve was replaced with a biological prosthesis No. 19. At follow up to twelve months, the patient is asymptomatic, at echocardiographic control the prosthetic valve appears normally functioning without signs of degeneration. The surgical technique of aortic valve replacement is not different in these patients, but the choice of the best prosthetic valve in cardiac ochronosis is still a matter of debate. In fact, the problem still remains discussed the possible deposition of the blue-black pigment at the level of biological prosthesis with its rapid deterioration. Our preliminary observations must naturally be confirmed by carefully conducted prospective studies.