Aortic aneurysms are challenging surgical entities of the utmost importance
to cardiovascular surgeons; when coupled with a connective tissue disorder, the
complexities are multifold. The prevalence of these diseases is low, but Marfan, Ehlers-
Danlos, and Loeys-Dietz syndromes are ubiquitous, affect both genders, and occur in all
ethnic groups and geographical locations. Because of this, knowledge of the genetic and
clinical manifestations of each syndrome is indispensible to the physician. A
comprehensive overview incorporating the biomolecular and physical anomalies
described in the literature is essential to providing optimal care for patients with these
diseases.
Keywords: Acute type A dissection, Aneurysm, Aortic dissection, Ehlers-Danlos
syndrome, Elastic fiber, Elastin, Epidermal growth factor, Etiology, Extracellular
matrix, Familial thoracic aortic aneurysm and dissection, Fibrillin-1 gene, Gene,
Loeys-Dietz syndrome, Marfan syndrome, Microfibrils, Mutation, Profibrillin,
Transforming growth factor beta, Transforming growth factor beta receptor 1,
Transforming growth factor beta receptor 2, Type III procollagen gene.
