Thoracic aortic disease in young patients: from genetics to management

Thoracic aortic disease in young patients is often driven by congenital, syndromic, or heritable disorders. Risk for adverse events in these patients is not fully captured by aortic diameter alone. This mini-review describes the shift in management beyond a diameter-based framework to one that also incorporates body size, somatic growth, genotype, phenotype, family history, vascular distribution, and life-style context. We synthesized evidence across key disease groups illustrating distinct limitations of diameter-only assessment, including Marfan syndrome, Loeys-Dietz syndrome, Turner syndrome, bicuspid aortic valve-associated aortopathy, non-syndromic heritable thoracic aortic disease, and vascular Ehlers-Danlos syndrome. Across these conditions, aortic size remains clinically important, but its interpretation varies substantially by underlying disease biology. In some disorders, diameter remains central but is modified by growth and phenotype; in others, indexed measures are more informative in the setting of short stature or childhood growth; and in others, diffuse arteriopathy or vascular fragility may permit dissection at relatively small diameters or without substantial antecedent enlargement. These distinctions have implications for imaging strategy, genetic evaluation, family screening, prophylactic surgical thresholds, and counseling regarding pregnancy and lifestyle. Overall, the field is moving toward a more precise model of care in which surveillance and intervention are tailored not only to anatomy, but also to the patient's biological and familial risk profile.