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Familial patterns of thoracic aortic aneurysms.
M A Coady1, R R Davies, M Roberts
1Department of Surgery, Yale University School of Medicine, New Haven, Conn 06510, USA.
Archives of Surgery (Chicago, Ill. : 1960)
|April 13, 1999
Summary
Genetic factors contribute to thoracic aortic aneurysms (TAA). Familial TAA presents earlier and grows faster than sporadic TAA, suggesting a new risk factor. Inheritance patterns indicate genetic heterogeneity, primarily autosomal dominant.
Area of Science:
- Cardiovascular Genetics
- Aortic Disease Research
- Medical Genetics
Background:
- Thoracic aortic aneurysms (TAA) are serious conditions affecting the aorta.
- Understanding the genetic basis of TAA is crucial for risk stratification and early detection.
- Familial patterns suggest a hereditary component in TAA development.
Purpose of the Study:
- To investigate the role of genetic factors in TAA development by analyzing familial patterns.
- To compare clinical characteristics of familial nonsyndromic TAA with sporadic TAA and Marfan syndrome-associated TAA.
- To determine the modes of inheritance for familial TAA.
Main Methods:
- Retrospective review of 598 TAA patients from a university hospital database.
- Telephone screening and review of medical/family histories for 135 randomly selected patients.
- Analysis of pedigrees to identify familial patterns and modes of inheritance.
Main Results:
- 19.3% of TAA patients belonged to multiplex pedigrees, indicating familial TAA.
- Familial nonsyndromic TAA presented significantly younger (56.8 years) than sporadic TAA (64.3 years).
- Familial TAA exhibited faster growth rates (0.22 cm/y) compared to sporadic TAA (0.03 cm/y).
- Pedigree analysis suggested genetic heterogeneity, with autosomal dominant inheritance being primary, but X-linked and recessive modes also observed.
Conclusions:
- Genetic factors significantly influence the familial aggregation of TAA.
- Familial TAA represents a distinct risk factor associated with accelerated aneurysm growth.
- The study highlights genetic heterogeneity in TAA, with multiple inheritance patterns identified.