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Case Reports
. 2015 Feb 1;42(1):84-6.
doi: 10.14503/THIJ-14-4138. eCollection 2015 Feb.

Ochronotic involvement of the aortic and mitral valves in a 72-year-old man

Case Reports

Ochronotic involvement of the aortic and mitral valves in a 72-year-old man

Atakan Atalay et al. Tex Heart Inst J. .

Abstract

Ochronosis, an autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in adverse pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular abnormalities are less frequently reported than are other manifestations. In rare cases, ochronosis can cause valvular heart disease. We report the case of a 72-year-old man with aortic stenosis and mitral insufficiency who was diagnosed with ochronosis while undergoing surgical aortic and mitral valve replacement. We discuss the history and surgical management of alkaptonuric ochronosis.

Keywords: Alkaptonuria/complications/diagnosis/pathology; aortic valve/pathology; calcinosis/radiography; heart diseases/diagnosis; heart valve prosthesis implantation; homogentisic acid/urine; ochronosis/diagnosis/pathology.

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Figures

Fig. 1
Fig. 1
A) Intraoperative photograph shows black discoloration of the intima of the aorta (arrow). B) Photograph of operative specimen shows black discoloration of the mitral valve. AV = aortic valve; MV = mitral valve
Fig. 2
Fig. 2
Photographs of the patient show ochronotic pigmentation of the A) sclera of the eye and B) outer ear cartilage.
Fig. 3
Fig. 3
Photomicrograph of a section of valvular leaflet shows ochronotic pigment deposition (H & E, orig. ×100).

References

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