Ann Thorac Surg 2006;82:1405-1406
© 2006 The Society of Thoracic Surgeons
Original Articles: Cardiovascular
Invited commentary
Charles R. Bridges, MD, ScD
Division of Cardiothoracic Surgery, University of Pennsylvania Medical Center, The Farm Journal Building, 230 W Washington Sq, 3rd Floor, Philadelphia, PA 19106
(Email: cbridges{at}pahosp.com).
The study by Elefteriades and colleagues at Yale is yet another in the series of seminal contributions his group has made to the study of thoracic aortic disease [1]. This study is particularly important because it highlights the common occurrence of familial patterns of inheritance in thoracic aortic aneurysms (TAA) and dissections occurring in patients without defined genetic syndromes as well as the nature and natural history of these aneurysms. Although this concept is not entirely new to this report, there have been remarkably few previous studies documenting nonsyndromic familial predisposition to thoracic aortic dissection and aortic aneurysm disease. In fact, one of the earliest reports documenting a familial pattern of inheritance for TAA was also published by the Yale group [2] in 1999. The findings of the current study confirm and extend the preliminary conclusions of the earlier study in a much larger cohort of patients. The key findings of both articles are that approximately 20% of non-Marfan's (MFS) syndrome patients with TAA have an inherited pattern; the growth rate for familial non-MFS patients is significantly greater than that for sporadic or MFS patients; and these aneurysms occur at a younger age than sporadic aneurysms, suggesting a more aggressive pathophysiology. The authors also report that the most common pattern of inheritance is autosomal dominant with a correlation between ascending aneurysms in the patients (probands) and ascending aneurysms in the kindreds (family members). Similarly, those with descending aneurysms are more likely to have descending thoracic or abdominal aortic aneurysms in family members, suggesting disparate genetic bases for non-MFS familial aneurysms in these two locations.
Although the familial occurrence of abdominal aortic aneurysms was first described nearly 30 years ago [3], the appreciation for the importance of familial inheritance for thoracic aneurysms is quite recent. As the authors of the current report discuss, the actual incidence of familial TAA is likely to be higher than the 20% estimate due to variable penetrance, the large number of asymptomatic aneurysms likely to be found in kindreds and the relatively advanced age at presentation. Thus, in contrast to MFS patients, many first-degree relatives are either too old, and thus may have unknowingly died of the disease, or they are too young and have not yet developed it. The most important finding of the study is that screening of family members of non-MFS patients with TAA is clearly warranted. Furthermore, the relatively aggressive growth rate of familial TAA suggests that intervention may be appropriate somewhat earlier in the natural history as is currently recommended for MFS patients with TAA.
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References
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- Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA. Familial thoracic aortic aneurysms and dissections—incidence, modes of inheritance, and phenotypic patterns Ann Thorac Surg 2006;82:1400-1406.[Abstract/Free Full Text]
- Coady MA, Davies RR, Roberts M, et al. Familial patterns of thoracic aortic aneurysms Arch Surg 1999;134:361-367.[Abstract/Free Full Text]
- Clifton MA. Familial abdominal aortic aneurysms Br J Surg 1977;64:765-766.[Medline]
Related Article
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Familial Thoracic Aortic Aneurysms and Dissections—Incidence, Modes of Inheritance, and Phenotypic Patterns
- Gonzalo Albornoz, Michael A. Coady, Michele Roberts, Ryan R. Davies, Maryann Tranquilli, John A. Rizzo, and John A. Elefteriades
Ann. Thorac. Surg. 2006 82: 1400-1405.
[Abstract]
[Full Text]
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