A systematic review supporting the Society for Vascular Surgery guidelines on the management of heritable aortopathies

Background: To support the development of clinical practice guidelines on the management of patients with genetic aortopathies and arteriopathies, a writing committee from the Society for Vascular Surgery has commissioned this systematic review. Methods: We conducted a systematic review and searched multiple databases for studies addressing six questions identified by the Society for Vascular Surgery guideline committee about evaluating and managing patients with genetic aortopathies and arteriopathies. Studies were selected and appraised by pairs of independent reviewers. Results: We included 12 studies in this systematic review. We did not identify studies about the long-term outcomes of endovascular repair for aortic aneurysm in patients with heritable aortopathy or about new aortic events in pregnant women with a history of aortic dissection (AD) or aneurysm. A small case series demonstrated a 100% survival rate and 100% aortic intervention-free survival at 15 months (range, 7-28 months) after endograft repair for type B AD. A positive genetic diagnosis was discovered in 36% of patients with aortic aneurysms and dissections who had no risk factors for hereditary aortopathies, and these patients had a mortality rate of 11% at a median follow-up duration of 5 months. Black patients had lower 30-day mortality than White patients (5.6% vs 9.0%, respectively), but they had a higher overall aortic reintervention rate at 30 days after AD repair (47% vs 27%, respectively). Aortic reinterventions owing to aneurysmal expansion and endoleak at 30 days were higher in Black patients than White patients. The certainty of evidence was judged to be very low across all the outcomes evaluated in this systematic review. Conclusions: The available evidence suggests high survival after thoracic endovascular aortic repair for type B AD in young patients with heritable aortopathies, but with limited long-term follow-up. Genetic testing in patients with acute aortic aneurysms and dissections had a high yield. It was positive for most patients with risk factors for hereditary aortopathies and in more than one-third for all other patients, and was associated with new aortic events within 15 years.