HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Gonzalo Albornoz Michael A. Coady Ryan R. Davies John A. Elefteriades Permission Requests Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Albornoz, G. Articles by Elefteriades, J. A. Search for Related Content PubMed PubMed Citation Articles by Albornoz, G. Articles by Elefteriades, J. A. Related Collections Great vessels Related Article

Ann Thorac Surg 2006;82:1400-1405
© 2006 The Society of Thoracic Surgeons

---

Original Articles: Cardiovascular

Familial Thoracic Aortic Aneurysms and Dissections—Incidence, Modes of Inheritance, and Phenotypic Patterns

^a Section of Cardiothoracic Surgery, Yale University School of Medicine, New Haven, Connecticut
^b Department of Genetics, Yale University School of Medicine, New Haven, Connecticut

Accepted for publication April 19, 2006.

^_* Address correspondence to Dr Elefteriades, 121 FMB, 333 Cedar St, New Haven, CT 06510 (Email: john.elefteriades{at}yale.edu).

Presented at the Poster Session of the Forty-second Annual Meeting of The Society of Thoracic Surgeons, Chicago, IL, Jan 30–Feb 1, 2006.

BACKGROUND: We examined the genetic nature and phenotypic features of thoracic aortic aneurysms (TAAs) and dissections in a large cohort of patients.

METHODS: Interviews were conducted with 520 patients with TAAs and their pedigrees were compiled to identify family members with aneurysms. Study patients were divided into three groups: 101 non-Marfan patients, in 88 pedigrees, had a family pattern for TAA (familial group), 369 had no family pattern (sporadic group), and 50 had Marfan syndrome (MFS). We determined incidence of familial clustering, age at presentation, rate of aneurysm growth, incidence of hypertension, correlation of aneurysm sites among kindred, and pedigree inheritance patterns.

RESULTS: An inherited pattern for TAA was present in 21.5% of non-MFS patients. The predominant inheritance pattern was autosomal dominant (76.9%), with varying degrees of penetrance and expressivity. The familial TAA group was significantly younger than the sporadic group (p < 0.0001), but not as young as the MFS group (p < 0.0001) (mean ages, 58.2 versus 65.7 versus 27.4 years). Among all 197 probands and kindred with aneurysm, 131 (66.5%) had TAA, 49 (24.9%) had abdominal aortic aneurysm (AAA), and 17 (8.6%) had cerebral or other aneurysms. Ascending aneurysm paired most commonly with ascending, and descending with abdominal. Abdominal aortic aneurysms (AAAs) and hypertension were more often associated with descending than with ascending TAAs (p < 0.001). Aortic growth rate was highest for the familial group (0.21cm/y), intermediate for the sporadic group (0.16 cm/y), and lowest for the Marfan group (0.1 cm/y; p < 0.01).

CONCLUSIONS: TAAs are frequently familial diseases. The predominant mode of inheritance is autosomal dominant. Familial TAAs have a relatively early age of onset. Aneurysms in relatives may be seen in the thoracic aorta, the abdominal aorta, or the cerebral circulation. Screening of first-order relatives of probands with TAA is essential. Familial TAAs tend to grow at a higher rate, exemplifying a more aggressive clinical entity.

Related Article

Invited commentary

Charles R. Bridges
Ann. Thorac. Surg. 2006 82: 1405-1406. [Extract] [Full Text] [PDF]

This article has been cited by other articles:

				H. K. Song, J. E. Bavaria, M. W. Kindem, K. W. Holmes, D. M. Milewicz, C. L. Maslen, R. E. Pyeritz, C. T. Basson, K. Eagle, H. E. Tolunay, et al. Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. Ann. Thorac. Surg., September 1, 2009; 88(3): 781 - 787. [Abstract] [Full Text] [PDF]

				H. J. Patel and G. M. Deeb Ascending and Arch Aorta: Pathology, Natural History, and Treatment Circulation, July 8, 2008; 118(2): 188 - 195. [Full Text] [PDF]

				M. G. Keane and R. E. Pyeritz Medical Management of Marfan Syndrome Circulation, May 27, 2008; 117(21): 2802 - 2813. [Full Text] [PDF]

				H. Kuivaniemi, C. D. Platsoucas, and M. D. Tilson III Aortic Aneurysms: An Immune Disease With a Strong Genetic Component Circulation, January 15, 2008; 117(2): 242 - 252. [Full Text] [PDF]

				T. B. Reece, R. R. Singh, B. M. Stiles, B. B. Peeler, J. A. Kern, C. G. Tribble, and I. L. Kron Replacement of the Proximal Aorta Adds No Further Risk to Aortic Valve Procedures Ann. Thorac. Surg., August 1, 2007; 84(2): 473 - 478. [Abstract] [Full Text] [PDF]

				C. R. Bridges Invited commentary. Ann. Thorac. Surg., October 1, 2006; 82(4): 1405 - 1406. [Full Text] [PDF]