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(Circulation. 1998;98:1148-1149.)
© 1998 American Heart Association, Inc.

Images in Cardiovascular Medicine

Aortic Valve Stenosis in Alkaptonuria

Misako Hangaishi, MD; Junichi Taguchi, MD; Yuji Ikari, MD; Minoru Ohno, MD; Kiyoshi Kurokawa, MD; Yutaka Kotsuka, MD; ; Akira Furuse, MD

From the First Department of Internal Medicine, Faculty of Medicine (M.H., J.T., Y.I., M.O.) and the Department of Thoracic Surgery (Y.K., A.F.), University of Tokyo; and the Department of Internal Medicine, Faculty of Medicine, Tokai University, Isehara (K.K.), Japan

A63-year-old man who had previously been diagnosed with alkaptonuria was admitted to our department with severe anemia (hemoglobin, 4.9 g/dL) due to gastrointestinal bleeding and congestive heart failure with severe aortic valve stenosis (AS) and moderate left ventricular hypertrophy.

Alkaptonuria was evidenced by homogentisic acid in the urine (Figure 1: left, fresh urine; right, urine left to stand for 24 hours) and ochronotic arthropathy in vertebrae, hip, and knee joints. The patient had undergone joint replacement surgery for the right hip and knee 9 months before admission; at that time, preoperative echocardiography revealed moderate AS (pressure gradient of 65 mm Hg). After surgery, he regularly took NSAIDs for arthralgia, and these were considered to be the cause of the gastrointestinal bleeding.

View larger version (94K): [in this window] [in a new window]   Figure 1.

After anemia and heart failure had been treated, cardiac catheterization was performed. The left ventricular–aortic pressure gradient was 90 mm Hg, with a normal ejection fraction. He had successful aortic valve replacement (Carpenter-Edward's valve). The native valve had massive ochronotic deposition with calcification, although the edge of each cusp was relatively free of degenerative change (Figure 2). Ochronotic pigmentation was also observed in the aortic lumen (Figure 3, arrow) during the operation.

View larger version (117K): [in this window] [in a new window]   Figure 2.

View larger version (103K): [in this window] [in a new window]   Figure 3.

Alkaptonuria is a rare hereditary disorder (autosomal recessive trait) of tyrosine catabolism. Deficiency of homogentisic acid oxidase leads to excretion of large amounts of homogentisic acid in the urine, which darkens on standing, and to accumulation of oxidized homogentisic acid pigment in connective tissue (ochronosis). Patients usually present . . . [Full Text of this Article]

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