Outcomes in Nonsyndromic Thoracic Aortic Aneurysm

Study Questions:

What are the comparative outcomes in patients with nonsyndromic (with few obvious physical features) genetic aortopathy with thoracic aortic aneurysm (TAA) as compared to syndromic aortopathies such as Marfan syndrome (MF) and bicuspid aortic valves (BAVs)?

Methods:

The prospective single-center study examined 760 patients with TAA and suspected genetic aortopathy meeting diagnostic criteria for nonsyndromic TAA (n = 311) or TAA attributed to MFS (n = 221) or BAV (n = 228). A cohort of 687 was also followed prospectively after presentation, and imaging findings, clinical variables, and rates of adverse events were compared between groups.

Results:

MFS patients were younger (p < 0.001), while BAV and nonsyndromic TAA patients were more likely to be male (p < 0.001). MFS patients had smaller maximal aortic diameters than nonsyndromic TAA (p < 0.001). Aortic dissection was the first sign of GA in 131 patients, and the majority had nonsyndromic TAA (77%), while 21% had MFS (p < 0.001). A total of 687 were followed after presentation for a median of 7 years. Mortality was similar for MFS and nonsyndromic TAA, with both groups noted to have higher mortality than TAA with BAV (p < 0.05). Among subjects enrolled in clinical surveillance, variables independently associated with increased mortality included nonsyndromic TAA (hazard ratio 2.2 vs. BAV, p = 0.04), MFS (hazard ratio 3.8 vs. BAV, p < 0.001), and increased age at presentation. A mortality risk score that incorporates aortopathy type, age at presentation, and family history of dissection can identify patients at increased risk of mortality using a best-fit multivariable model.

Conclusions:

Patients with nonsyndromic TAA are more likely to present with aortic dissection, and patients with MFS and nonsyndromic TAA have higher rates of mortality than those with BAV. A risk score can be used to identify patients at increased risk of mortality.

Perspective:

This large prospective study compares clinical characteristics and outcomes between patients with TAA and nonsyndromic genetic aortopathy as compared to TAA related to syndromic genetic aortopathies such as BAV or MFS. Significant differences in presentation and outcomes were observed between groups, and MFS and nonsyndromic aortopathy patients were observed to have higher rates of mortality as compared to those with BAV. The results were used to derive a clinical risk score that may be helpful to assess mortality risk in TAA with genetic aortopathy, although independent validation is needed to confirm these findings.

Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Invasive Cardiovascular Angiography and Intervention, Valvular Heart Disease, Vascular Medicine, Aortic Surgery, Cardiac Surgery and CHD & Pediatrics, Cardiac Surgery and VHD, Congenital Heart Disease, CHD & Pediatrics and Interventions, CHD & Pediatrics and Quality Improvement, Interventions and Structural Heart Disease, Interventions and Vascular Medicine

Keywords: Aneurysm, Dissecting, Aortic Aneurysm, Aortic Aneurysm, Thoracic, Cardiac Surgical Procedures, Dissection, Heart Defects, Congenital, Heart Valve Diseases, Marfan Syndrome, Mortality, Risk, Vascular Diseases


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