Send to

Choose Destination
See comment in PubMed Commons below
Hum Pathol. 2000 Aug;31(8):1002-4.

Sudden cardiac death owing to pseudoxanthoma elasticum: a case report.

Author information

  • 1Office of the Medical Investigator, University of New Mexico School of Medicine, Albuquerque 87131-5091, USA.


A 26-year-old woman collapsed and died suddenly while dancing. Autopsy findings included the cutaneous lesions of pseudoxanthoma elasticum (PXE), a rare genetic disease with autosomal dominant and recessive inheritance patterns. Pathologic findings of PXE (degenerated elastic fibers) were seen in the stenotic epicardial coronary arteries, the intramyocardial arterioles, the subendocardium, the mitral valve, and the blood vessels of other viscera. The mitral valve was slightly myxoid. Intramyocardial arteriolar involvement has not been previously described in PXE. The other cardiac findings have only been described in a few cases. Although mitral valve prolapse in PXE has been shown echocardiographically, it is unclear whether or not the mitral valve findings in this case represent the substrate for this condition. It is important that autopsy pathologists search carefully for the pathognomonic skin lesions of PXE in cases of sudden death associated with coronary disease, mitral valve prolapse, or endocardial lesions. Recognition of this disease is essential for proper genetic counseling of surviving family members.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center