This website provides information on patients with mutations in the HEY2 gene, including clinical data, molecular data, management and research options.

The phenotype caused by mutations in the HEY2 gene is characterized by life-threatening congenital heart defects (CHD) in homozygotes, and a myriad of cardiovascular defects, mainly CHD and familial thoracic aortic aneurysms (FTAA) of the ascending aorta, in the majority of heterozygotes.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the HEY2 gene.

Inge Mathijssen, MD, PhD, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands, i.b.mathijssen@amsterdamumc.nl

Eva van Walree, MD, PhD candidate, Department of Human Genetics, Amsterdam UMC, University of Amsterdam and Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands, e.s.van.walree@vu.nl/evavanwalree@gmail.com