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Echocardiographic Manifestations in a Patient with Pseudoxanthoma Elasticum
- Barry P. Rosenzweig, MD;
- Erminia Guarneri, MD; and
- Itzhak Kronzon, MD
- 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.
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 [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.
Case Report
A 54-year-old Hispanic woman with a history of pseudoxanthoma elasticum had episodes of transient, and later persistent, blindness in her left eye. Three years before hospitalization, a biopsy of papular skin lesions on the lateral aspect of the neck showed elastic fiber fragmentation and calcification within the papillary dermis. The patient reported a 2-year history of lower-extremity claudication and upper-extremity paresthesias but denied previous visual problems, transient cerebral ischemic events, headache, and stroke. No history of hypertension, lipid disorder, cigarette smoking, or family history of early atherosclerosis was reported. Our patient was 1 of 10 siblings, and 2 sisters were known to have similar skin lesions. Physical examination showed many small yellow papules in the flexor regions of the neck and axillae typical of pseudoxanthoma elasticum. Funduscopic examination at the time of hospitalization showed angioid streaks in both eyes. Subsequent evaluation by an ophthalmology consultant 6 weeks later showed marked pallor of the optic disc …
