WILLIAMS-SYNDROME - A MIDDLE-AGED CASE OF MARKEDLY DELAYED DIAGNOSIS

A rare case of Williams syndrome diagnosed at the age of 41 is documen ted. The first subjective symptom was chest pain and the patient displ ayed many other features in addition to severe supravalvular aortic st enosis with a systolic gradient of 60 mmHg. The stenotic lesion had an area of 0.5 cm(2), and was associated with dilated and tortuous coron ary arteries. Extended aortoplasty was successfully performed and the postoperative course has been excellent without any cardiac symptoms. In spite of the severe cardiac lesions, this case had been largely asy mptomatic and presented unusual features related to the diagnosis and management of this syndrome in an adult. The pattern of abnormalities found in this case suggested problems in relation to the calcitonin/ca lcitonin gene related peptide (CGRP) and the elastin gene occurring in embryonic organogenesis.