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Long-term outcomes in heritable thoracic aortic disease.
Elizabeth N Robertson1,2, Paul G Bannon1,3,4, Richmond W Jeremy1,2,3
1Central Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Frontiers in Cardiovascular Medicine
|October 31, 2022
Summary
Heritable aortic diseases, including Marfan syndrome and newer genetic conditions, show comparable survival rates with surveillance. However, diagnosis delays in newer syndromes increase aortic dissection risk, necessitating frequent surgical interventions.
Area of Science:
- Cardiovascular Genetics
- Aortic Diseases
- Syndromic Aortopathies
Background:
- Heritable aortic aneurysms are significant causes of morbidity and mortality.
- Marfan syndrome (MFS) is well-known, but newer genetic syndromes and non-syndromal heritable aortic diseases are less understood clinically.
- Clinical outcomes and prognosis for these less common conditions require further investigation.
Purpose of the Study:
- To investigate the presentation, clinical course, and survival of patients with syndromal (Loeys-Dietz, aneurysm-osteoarthritis, ACTA2 syndrome) and non-syndromal heritable aortic diseases.
- To compare these outcomes with those of patients with Marfan syndrome.
- To identify differences in diagnosis age, initial presentation, and long-term management needs.
Main Methods:
- Longitudinal follow-up of 536 individuals with various heritable aortic diseases from 1990 to 2022.
- Comparison of age at diagnosis, presenting aortic dissection rates, overall survival, dissection-free survival, and surgery-free survival between different genetic groups.
- Statistical analysis to determine differences in clinical outcomes and disease progression.
Main Results:
- Diagnosis age varied significantly, with MFS diagnosed earlier than other syndromic and non-syndromal conditions.
- Aortic dissection was a more frequent presenting event in non-syndromal heritable aortopathy and Loeys-Dietz syndrome compared to MFS.
- While 10-year survival was comparable across groups, survival free of surgery was significantly lower in Loeys-Dietz and aneurysm-osteoarthritis syndromes, indicating a higher need for interventions.
Conclusions:
- Delayed diagnosis in newer syndromic and non-syndromal heritable aortopathies is associated with higher rates of presentation with aortic dissection.
- Despite comparable overall survival with surveillance, the need for surgical intervention remains high across all heritable aortic disease groups.
- Further research into early diagnosis and tailored management strategies for diverse heritable aortic conditions is crucial.
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