Julie De Backer

Julie De Backer 2018-01-04T10:32:15+00:00

Julie De Backer is a cardiologist and clinical geneticist with a clinical and research interest in Heritable Thoracic Aortic Diseases (HTAD) and Adult Congenital Heart Disease (ACHD) working at the Ghent University Hospital in Belgium. She focuses on deep cardiovascular phenotyping in Marfan syndrome and related aortic disorders and the relation to the genotype. Integrating clinical and genetic data with data from  genetically engineered animal models she and her team aim to identify new targets for better treatment and management. She is also involved in several multidisciplinary clinics for patients with HTAD and ACHD and in the development of adequate transition programs for these patients. She is an active member of several consortia and international societies in the field, including the ESC WG on Adult Congenital Heart Disease, the European Reference Network for Rare Multisystemic Vasculair Disease and the Montalcino Aortic Consortium. She (co)- authored >80 peer reviewed papers – het h-index is 31 (nov 2017) full biography @  https://biblio.ugent.be/person/001988169590


Over the last decade, the clinical and genetic spectrum of Heritable Thoracic Aortic Disease (HTAD) has expanded significantly. Based on the identification of new clinical entities and their respective causative genetic defects, our understanding of the underlying pathophysiology of aortic aneurysm and –dissections has improved significantly. The initial hypothesis that HTAD were merely resulting from genetic defects leading to structural abnormalities in the extracellular matrix has been adjusted. With the identification of genetic defects affecting the integrity of the TGFβ signaling pathway on the one hand and the correct functioning of the smooth muscle cell contractile apparatus on the other hand, the concept of impaired mechanobiology has been adopted. According to this concept, interaction between environmental factors (blood pressure, gender, pregnancy) on the one hand and the underlying intrinsic aortic wall abnormalities (due to gene defects) can be studied and modeled.

Gene-tailored risk stratification for aortic disease is under development. This requires careful integration of clinical and genetic data, which can only be achieved with large consortia such as the Montalcino Aortic Consortium. Data resulting from the consortium illustrating gene-based risk for aortic dissection will be presented.