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

► We report a novel association between Joubert Syndrome and aortic stenosis. ► We review the reported congenital heart defects in all ciliopathies. ► Congenital heart disease is a significant component of the ciliopathy phenotype. ► We recommend investigation of the cardiovascular system in Joubert syndrome.