Echocardiographic Manifestations in a Patient with Pseudoxanthoma Elasticum
Authors: Barry P. Rosenzweig
Journal: Annals of Internal Medicine (1993)

Brief Reports15 September 1993Echocardiographic Manifestations in a Patient with Pseudoxanthoma ElasticumBarry P. Rosenzweig, MD, Erminia Guarneri, MD, and Itzhak Kronzon, MDBarry P. Rosenzweig, MDFrom New York University Medical Center, New York, New York.Search for more papers by this author, Erminia Guarneri, MDFrom New York University Medical Center, New York, New York.Search for more papers by this author, and Itzhak Kronzon, MDFrom New York University Medical Center, New York, New York.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-119-6-199309150-00007 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail 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 ...References1. Uitto J. Pseudoxanthoma elasticum. In: Wyngaarden JB, Smith LH Jr; eds. Cecil Textbook of Medicine. Philadelphia: W.B. Saunders; 1985:1152. Google Scholar2. Navarro-Lopez F, Llorian A, Ferrer-Roca O, Betriu A, Sanz G. Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest. 1980; 78:113-5. Google Scholar3. Mendelsohn G, Bulkley BM, Hutchins GM. Cardiovascular manifestations of pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978; 102:298-302. Google Scholar4. Neldner KH. Vascular manifestations. In: Parish LC, Crissey JT; eds. Clinics in Dermatology. Pseudoxanthoma Elasticum. Philadelphia: J.B. Lippincott; 1988:45-63. Google Scholar5. Messis CP, Budzilovich GN. Pseudoxanthoma elasticum. Report of an autopsied case with cerebral involvement. Neurology. 1970; 20: 703-9. Google Scholar6. Kaplan L, Hartman SW. Elastica disease: case of Gronblad Strandberg syndrome with gastrointestinal hemorrhage. Arch Intern Med. 1954; 94:489-92. Google Scholar7. Tunick PA, Perez JL, Kronzon I. Protruding atheromas in the thoracic aorta and systemic embolization. Ann Intern Med. 1991; 115: 423-7. Google Scholar8. Fang ML, Astarita RW, Steinman HK. Cardiac calcifications and yellow papules in a young man. Pseudoxanthoma elasticum (PXE). Arch Dermatol. 1988; 124:1560-1, 1563-4. Google Scholar9. Challenor VF, Conway N, Monro JL. The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum. Br Heart J. 1988; 59:266-9. Google Scholar10. Lebwohl MG, Distefano D, Prioleau PG, Uram M, Yannuzzi LA, Fleischmajer R. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982; 307:228-31. Google Scholar11. Pyeritz RE, Weiss JL, Renie WA, Fine SL. Pseudoxanthoma elasticum and mitral-valve prolapse (Letter). N Engl J Med. 1982; 307: 1451-2. Google Scholar12. Leonard J, Katz S, Nelson D. Calcification of the left atrium. N Engl J Med. 1957; 256:629. Google Scholar13. Freudlich IM, Lind TA. Calcification of the heart and great vessels. CRC Crit Rev Clini Radiol Nucl Med. 1975; 6:171-216. Google Scholar Author, Article, and Disclosure InformationAffiliations: From New York University Medical Center, New York, New York.Corresponding Author: 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. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byMagnesium Reduces Carotid Intima-Media Thickness in a Mouse Model of Pseudoxanthoma Elasticum: A Novel Treatment BiomarkerTesticular Microlithiasis in Association with Pseudoxanthoma ElasticumOrange-like skin lesion and hypertension--what is the link?Manifestations cardiovasculaires de l’élastorrhéxie systématiséeA case of pseudoxanthoma elasticum associated with sick sinus syndrome 15 September 1993Volume 119, Issue 6Page: 487-490KeywordsEchocardiographyEndocardiumHeart failureLeft atriumLesionsMitral insufficiencyMyocardial infarctionRenal failureStrokeVascular diseases Issue Published: 15 September 1993 Copyright & PermissionsCopyright © 1993 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...