Familial Patterns of Thoracic Aortic Aneurysms
| Autor: | Matthew J. Rogalski, Graeme L. Hammond, John A. Rizzo, Lee J. Goldstein, John A. Elefteriades, Michele Roberts, Ryan R. Davies, Gary S. Kopf, Michael A. Coady |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male Aortic dissection Marfan syndrome medicine.medical_specialty Adolescent Aortic Aneurysm Thoracic business.industry Family aggregation Middle Aged medicine.disease Pedigree Surgery Familial thoracic aortic aneurysm Aortic aneurysm Aneurysm Humans Medicine Female business X-linked recessive inheritance Aged Retrospective Studies Dominance (genetics) |
| Zdroj: | Archives of Surgery. 134:361 |
| ISSN: | 0004-0010 |
| DOI: | 10.1001/archsurg.134.4.361 |
| Popis: | Hypothesis: To provide evidence that genetic factors contribute to the development of thoracic aortic aneurysms (TAA) by demonstrating familial patterns of the disease. Design: Retrospective review. Setting: University hospital. Patients and Methods: We sought to identify familial patterns of TAA from a database of 598 patients evaluated or treated for TAA at the Yale Center for Thoracic Aortic Discase, New Haven, Conn, from January 1985 to August 1998. Of the 598 patients, 45 patients had a diagnosis of Marfan syndrome and 553 patients had no known history of any collagen vascular disorder. Of the 553 patients in the latter category, 398 patients had confirmed TAA, 66 had TAA with concomitant aortic dissections, and 89 had aortic dissections. From the group of 464 patients with TAA with or without concomitant aortic dissections, 2 interviewers attempted to contact 150 randomly selected patients for telephone screening to determine the presence of familial patterns of aortic disease. Fifteen of these patients were lost to follow-up. Complete medical and family histories of the remaining 135 patients (85 men, 50 women) were reviewed. Of the 135 individuals screened, 26 (18 men, 8 women) (19.3%) were found to belong to multiplex pedigrees. These 26 patients with familial nonsyndromic TAA were compared with the remaining 109 patients with sporadic TAA and the 45 patients with Marfan syndrome-associated TAA. Main Outcome Measures: Groups were examined for statistical differences in age and aortic size at the time of diagnosis, growth rates of TAA, and rates of concomitant diseases. Nonsyndromic family pedigrees were analyzed and potential modes of inheritance were determined. Results: The mean age at presentation for patients with familial nonsyndromic TAA (56.8 years) was significantly younger than the mean age of presentation in sporadic cases (64.3 years, P≤.03), and significantly older than that of patients with Marfan syndrome (24.8 years, P≤.001). Patients with a family history of aortic aneurysms had faster growth rates (0.22 cm/y) compared with patients with sporadic TAA (0.03 cm/y) (P≤.001) and patients with Marfan syndrome (0.10 cm/y) (P |
| Databáze: | OpenAIRE |
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