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Aortic dilatation in Cockayne syndrome
Author(s) -
Ovaert Caroline,
Cano Aline,
Chabrol Brigitte
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31986
Subject(s) - cockayne syndrome , ascending aorta , premature aging , medicine , cardiology , aorta , regurgitation (circulation) , heart failure , dilated cardiomyopathy , cardiomyopathy , dna repair , genetics , biology , dna , physiology , nucleotide excision repair
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. © 2007 Wiley‐Liss, Inc.