CONGRESS ABSTRACT

Background: Heritable thoracic aortic diseases (HTADs), including Marfan syndrome, Loeys–Dietz syndrome, vascular Ehlers–Danlos syndrome, and familial aortopathies, manifest genotype-specific patterns of aortic involvement, tissue fragility, and progression. These molecular determinants influence surgical risk, durability of repair, and likelihood of distal disease evolution. Consequently, surgical management has progressively moved from uniform diameter-based thresholds toward a genotype-informed, tailored strategy, in which operative timing and technique selection vary according to the underlying aortopathy. Methods: We performed a PRISMA 2020 systematic review of studies (2005–2025) reporting surgical outcomes in genetically or clinically established HTAD. Eligible procedures included aortic root, arch surgery, and descending or thoracoabdominal interventions. Data were synthesized narratively by anatomical segment with emphasis on genotype-specific behavior, durability of proximal repair, and patterns of distal progression. Results: A total of 104 studies (9,427patients) were included. Aortic root surgery was the most extensively studied. Valve-sparing root replacement, showed excellent early mortality (0–1% in most Marfan cohorts) and strong long-term durability (>90% 5-year survival). Composite graft replacement achieved similarly robust proximal results. Genotype strongly influenced long-term behavior: Marfan patients demonstrated stable proximal repair with distal progression as the predominant late event, whereas Loeys–Dietz cohorts exhibited earlier, diffuse, multisegment involvement despite low perioperative risk. Arch procedures were effective in elective settings but associated with substantial late distal reinterventions in chronic dissection. Descending and thoracoabdominal repairs displayed the greatest variability: TEVAR yielded low perioperative mortality in selected HTAD but consistently high reintervention rates (25–55%), whereas open thoracoabdominal repair provided superior durability at the cost of higher early morbidity. Conclusions: Across two decades of evidence, surgical treatment of HTAD appears safe and durable proximally, yet long-term outcomes are driven primarily by genotype-dependent distal disease progression. Integrating genotype, arterial phenotype, and expected disease trajectory is essential to individualize surgical timing, technique selection, and lifelong surveillance in HTAD.