Aortic aneurysm: Correlations with phenotypes associated with connective tissue dysplasia

An aortic aneurysm is a localized enlargement that exceeds the normal diameter of the vessel by 50 %, posing a risk due to the likelihood of rupture. The cause of aortic aneurysm, especially in young people, is connective tissue dysplasia, a condition characterized by defects in the assembly of collagen and elastin proteins, leading to changes in elastic properties and disruption of the formation of organs and their systems. The article presents data confirming the relationship between many morphological manifestations of connective tissue dysplasia (e.g., funnel-shaped deformation of the sternum, scoliosis of the thoracic spine, abdominal hernias, arterial tortuosity, striae of atypical localization) and the risk of aortic aneurysm formation. The literature suggests that the identified combinations of some external manifestations of connective tissue dysplasia deserve special attention and may be constitutional markers for the possible development of aortic aneurysm, which is a promising direction for further research in this area.