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
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
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.
Footnotes
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.
Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke's Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1–267, Houston, TX 77030.
© 1998 American Heart Association, Inc.
Images in Cardiovascular Medicine
Aortic Valve Stenosis in Alkaptonuria
: 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 a new window]
Figure 1.
). Ochronotic pigmentation was
also observed in the aortic lumen (Figure 3, arrow) during the operation.
View larger version (117K):
[in a new window]
Figure 2.
View larger version (103K):
[in a new window]
Figure 3.
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