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Published on: June 20, 2025
Genetic aortic disease epidemiology, management principles, and disparities in care
Sherene Shalhub1, Stephanie Wallace1, Osa Okunbor1
1Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, 1959 NE Pacific Street, Box 356410, Seattle, WA 98195.
Insights
Heritable aortopathies, or genetic aortic diseases, affect younger patients with faster aneurysm growth and dissections. This review details their causes, spread, and care, emphasizing equitable, patient-centered practices.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Public Health
Background:
- Heritable aortopathies present earlier and progress faster than atherosclerotic diseases.
- These genetic conditions encompass syndromic and nonsyndromic forms.
- Understanding disparities in care is crucial for equitable treatment.
Purpose of the Study:
- To review the etiology, epidemiology, and management of heritable aortopathies.
- To examine sex, gender, and race differences and care disparities.
- To highlight the role of vascular teams and patient input in research and policy.
Main Methods:
- Literature review focusing on genetic aortic disease.
- Analysis of existing data on patient demographics and outcomes.
- Synthesis of current management strategies and research trends.
Main Results:
- Heritable aortopathies are heterogeneous, affecting younger populations.
- Significant disparities in care and knowledge exist across different demographics.
- Patient-centered approaches and multidisciplinary teams are vital for optimal care.
Conclusions:
- Effective health policies require understanding the unique aspects of genetic aortic disease.
- Equitable, appropriate, and patient-centered clinical practices are essential.
- Integrating patient input into research can improve care delivery and outcomes.
Abstract:
Patients with syndromic and nonsyndromic heritable aortopathies (also known as genetic aortic disease) are a heterogeneous group of patients who present at younger ages with more rapid growth of aortic aneurysms and/or increased frequency of dissections compared with patients with atherosclerotic aortopathies. In this review, we describe the etiology, epidemiology, and appropriate care delivery for these conditions at each stage of management. Within each section, we discuss sex, gender, and race differences and highlight disparities in care and knowledge. We then discuss the role of the vascular team throughout the cycle of care and the evolving inclusion of patient input in research. This understanding is essential to the creation of effective health care policies that support equitable, appropriate, and patient-centered clinical practices.
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