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

Article ID	Journal	Published Year	Pages	File Type
5904978	European Journal of Medical Genetics	2012	6 Pages	PDF

Abstract

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

Keywords

Joubert syndrome and related disorders Congenital heart disease Aortic stenosis Bicuspid aortic valve Ciliopathy atrial septal defect