Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies

Abstract

We report a case of a 2 year-old boy with Joubert Syndrome and Related Disorders (JSRD), severe congenital aortic stenosis, bicuspid aortic valve and an atrial septal defect. JSRD is one of a group of conditions known as 'ciliopathies', whose multi-organ involvement results from primary cilia dysfunction. To date, there have been no other reported cases of aortic stenosis and bicuspid aortic valve associated with JSRD. Cardiac screening is not currently recommended in the management guidelines for individuals suspected of having JSRD. We speculate that while the presence of congenital aortic stenosis in this child could be caused by an unrelated genetic mechanism, it could also represent a phenotypic overlap with another ciliopathy, Bardet Biedl syndrome, in which aortic stenosis is more commonly reported. We also review the range of cardiac malformations reported to be present in all human diseases known to be ciliopathies, in order to assist with the investigation and management of individuals with a suspected or proven ciliopathy.