heritable thoracic aortic disease(English)

• may be classified as syndromic (including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome and others) or non-syndromic (without recognizable phenotypes) and relate to pathogenic variants in multiple genes affecting extracellular matrix proteins, transforming growth factor-beta signaling and smooth muscle contractile function
• TGF-ß, FTAA, HTN, LDS, MFS, TAA
• Vascular disease
• http://dx.doi.o…jnl-2020-317036