Aortic dilatation in Cockayne syndrome.
Cockayne syndrome is a rare growth failure and premature aging disorder featuring abnormal ultraviolet sensitivity and impaired transcription-coupled DNA repair. Cardiac involvement has not been described in Cockayne patients except for one recently described case of dilated cardiomyopathy. We describe one patient in whom marked ascending aorta dilatation was observed together with mild aortic regurgitation. Ascending aorta dilatation might be another feature of premature aging in Cockayne syndrome and may require cardiovascular investigation and monitoring.
Ovaert
Caroline
C
Paediatric Cardiology, La Timone Children's Hospital, Marseille, France. ovaert@pedi.ucl.ac.be
Cano
Aline
A
Chabrol
Brigitte
B
D001011:Aorta / Q000473:pathology*; D001022:Aortic Valve Insufficiency; D003057:Cockayne Syndrome / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant