Marjolijn Renard

TL;DR: FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.

TL;DR: The ClinGen framework is useful to semiquantitatively assess the strength of gene-disease relationships for HTAAD and may inform clinical laboratories in the development, interpretation, and subsequent clinical implications of genetic testing for patients with aortic disease.

TL;DR: Interestingly, immunohistochemical staining of aortic biopsies of a patient and a family member with MYH11 and patients with ACTA2 missense mutations showed upregulation of the TGFβ signaling pathway.

TL;DR: Patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis, which confirms the important role of fibulin-4 in vascular elastic fiber assembly and provides the first evidence for the involvement of altered TGFβ signaling in the pathogenesis of FBLn4 mutations in humans.

TL;DR: This review will focus on the current knowledge of a recently discovered syndromic form of TAA, namely the Loeys–Dietz syndrome or LDS, caused by mutation in the genes encoding the transforming growth factor beta receptor 1 and 2 and is characterized by aggressive aortic/arterial disease.