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Echocardiographic Manifestations in a Patient with Pseudoxanthoma Elasticum

Barry P. Rosenzweig, MD; Erminia Guarneri, MD; and Itzhak Kronzon, MD
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From New York University Medical Center, New York, New York. Requests for Reprints: Itzhak Kronzon, MD, New York University Medical Center, 560 First Avenue, Room HW228, New York, NY 10016. Acknowledgment: The authors thank Mark Kupersmith, MD, for ophthalmologic consultation and Loleta Williams, RDMS, for technical assistance.

Copyright 2004 by the American College of Physicians

Ann Intern Med. 1993;119(6):487-490. doi:10.7326/0003-4819-119-6-199309150-00007
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Pseudoxanthoma elasticum is a rare connective-tissue disease with a prevalence of 1:160 000 and both autosomal recessive and dominant patterns of inheritance [1]. In this disorder, elastic fiber fragmentation, clumping, and calcification cause dermatologic, gastrointestinal, ocular, and cardiovascular manifestations. Multiple autopsy studies have described thickening, fibrosis, and ruptured elastic fibers in the endocardium [23]; however, no detailed descriptions of the echocardiographic findings in pseudoxanthoma elasticum have been reported.

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Figure 1.
Photograph of the left retina.arrows

Marked pallor of the temporal disc is indicative of retrograde degeneration of the inner layer of the retina after an ischemic insult. Note the prominent angioid streak in the superior nasal retinal field ( ).

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Figure 3.
Transesophageal echocardiogram.

The horizontal plane at the level of the left atrium (LA) and left atrial appendage (A) is shown. Calcified endocardial plaques (small arrows) outline the left atrial appendage. A mobile calcific mass 5 mm in diameter is seen at the junction of left atrial appendage and the body of the left atrium (large arrow).

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Figure 2.
Transthoracic two-dimensional echocardiogram.Left.Right.

Parasternal long-axis view. Extensive calcification of the left atrial endocardium and the aortomitral annulus is evident. Calcification of the posterior mitral annulus involves the posterior leaflet of the mitral valve () and extends onto the endocardial surface of the left ventricular posterior wall. LV = left ventricle; RV = right ventricle. Parasternal short-axis view at the level of the left atrium and the aortic root. Circumferential calcification of the left atrial endocardium is indicated by arrows. AO = aortic root; RA = right atrium.

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