Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy

Abstract

Inherited aortopathies, including Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome, are genetic disorders characterized by structural abnormalities of the aorta that predispose individuals to life-threatening complications like aneurysms and dissections. These conditions result from mutations in genes essential for maintaining aortic wall integrity, such as FBN1, TGFBR1, and COL3A1, affecting extracellular matrix components and the transforming growth factor-beta (TGF-β) pathway. Marfan syndrome has a prevalence of approximately 1 in 5000, while Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome are rarer, with estimated prevalences of 1 in 100 000 and 1 in 20 000, respectively. Familial thoracic aortic aneurysms and dissections (FTAAD), linked to mutations in genes like ACTA2 and MYH11, highlight the genetic heterogeneity of aortopathies. Management strategies focus on early diagnosis, risk stratification, regular imaging, lifestyle modifications, and timely surgical intervention. Advances in genetic testing and targeted therapies offer promise for personalized care. However, challenges such as genetic heterogeneity, incomplete penetrance, and variability in disease progression limit effective management. Limitations in current research include heterogeneity among studies, which complicates meta-analyses and consensus building. Future directions include exploring novel genetic interventions, optimizing treatment timing, and addressing psychosocial impacts to enhance patient outcomes. By addressing gaps in knowledge and integrating patient-reported outcomes, this study underscores the importance of a multidisciplinary approach to managing inherited aortopathies and improving the quality of life for affected individuals.