Aortic Valve Stenosis in Alkaptonuria
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.
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.
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 with degenerative arthritis in middle life. Degenerative cardiovascular disease, especially AS as in this case, has been reported and may be one of the important clinical problems in older patients.
Reprint requests to Dr Misako Hangaishi, the First Department of Internal Medicine, Faculty of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan.
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
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