Barry P. Rosenzweig, MD; Erminia Guarneri, MD; Itzhak Kronzon, MD
Rosenzweig B., Guarneri E., Kronzon I.; Echocardiographic Manifestations in a Patient with Pseudoxanthoma Elasticum. Ann Intern Med. 1993;119:487-490. doi: 10.7326/0003-4819-119-6-199309150-00007
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Published: Ann Intern Med. 1993;119(6):487-490.
Pseudoxanthoma elasticum is a rare connective-tissue disease with a prevalence of 1:160 000 and both autosomal recessive and dominant patterns of inheritance . 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 [2, 3]; however, no detailed descriptions of the echocardiographic findings in pseudoxanthoma elasticum have been reported.
We recently used transthoracic and transesophageal echocardiography to examine a patient with pseudoxanthoma elasticum who had experienced sudden monocular blindness that we believed to be the result of embolization from extensive intracardiac fibroelastosis and calcification.
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Cardiology, Cardiac Diagnosis and Imaging.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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