Williams syndrome. A middle-aged case of markedly delayed diagnosis.
A rare case of Williams syndrome diagnosed at the age of 41 is documented. The first subjective symptom was chest pain and the patient displayed many other features in addition to severe supravalvular aortic stenosis with a systolic gradient of 60 mmHg. The stenotic lesion had an area of 0.5 cm2, and was associated with dilated and tortuous coronary 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 asymptomatic 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/calcitonin gene related peptide (CGRP) and the elastin gene occurring in embryonic organogenesis.
Matsumoto
A
A
Department of Internal Medicine, Musashino Red Cross Hospital, Tokyo, Japan.
Nitta
M
M
Niwa
A
A
Hosoda
H
H
Shirai
T
T
Sakamoto
T
T
Suzuki
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D015740:Calcitonin Gene-Related Peptide / Q000235:genetics; D004549:Elastin / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome; D013997:Time Factors
D004549:Elastin; D015740:Calcitonin Gene-Related Peptide