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Aarskog syndrome is a familial condition associated with craniofacial anomalies, genital malformations and short stature. Affected children have significantly higher chance of having congenital heart disease (CHD) than the general population. We report the case of a child afflicted with progressive aortic root dilatation and sub-valvular aortic stenosis, successfully managed with aortic root and valve replacement. Given the association between Aarskog syndrome and CHD, cardiac surveillance should be undertaken in all affected children.

Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management