Familial Pseudoxanthoma Elasticum and Valvular Heart Disease

Abstract

The clinical and postmortem findings in a patient with pseudoxanthoma elasticum, who died in congestive heart failure due to mitral stenosis are presented. Histologic examination of the heart revealed elastic tissue degeneration in the endocardium of the left atrium and in the valves and no evidence for rheumatic heart disease. The skin, blood vessel, and kidney sections also showed the changes of pseudoxanthoma elasticum. Five of the patient''s 6 children were available for skin biopsies, and all demonstrated some degree of elastic tissue change consistent with pseudoxanthoma elasticum. Three of the children also had evidence of valvular heart disease. A skin biopsy from the patient''s husband was normal, indicating a dominant mode of inheritance, which has been considered rare. In the 3 previously reported cases of pseudoxanthoma elasticum with histologic cardiac involvement, valvular heart disease was not a clinical problem. It is thought that pseudoxanthoma elasticum must be added to the list of uncommon causes of valvular heart disease. When a patient with the findings of valvular heart disease lacks a history of rheumatic fever, pseudoxanthoma elasticum should be considered.