Familial Patterns of Thoracic Aortic Aneurysms

摘要: Hypothesis: To provide evidence that genetic factors contribute to the development of thoracic aortic aneurysms (TAA) by demonstrating familial patterns disease. Design: Retrospective review. Setting: University hospital. Patients and Methods: We sought identify TAA from a database 598 patients evaluated or treated for at Yale Center Thoracic Aortic Discase, New Haven, Conn, January 1985 August 1998. Of patients, 45 had diagnosis Marfan syndrome 553 no known history any collagen vascular disorder. in latter category, 398 confirmed TAA, 66 with concomitant dissections, 89 dissections. From group 464 without 2 interviewers attempted contact 150 randomly selected telephone screening determine presence Fifteen these were lost follow-up. Complete medical family histories remaining 135 (85 men, 50 women) reviewed. individuals screened, 26 (18 8 (19.3%) found belong multiplex pedigrees. These nonsyndromic compared 109 sporadic syndrome-associated TAA. Main Outcome Measures: Groups examined statistical differences age size time diagnosis, growth rates diseases. Nonsyndromic pedigrees analyzed potential modes inheritance determined. Results: The mean presentation (56.8 years) was significantly younger than cases (64.3 years, P≤.03), older (24.8 P≤.001). faster (0.22 cm/y) (0.03 (P≤.001) (0.10 (P<.04). Familial dissection rate 0.33 cm/y, which greater (0.08 associated dissection. This cm/y overall estimate (0.14 (P≤.05). Ten (38.5%) showed direct father son transmission, consistent an autosomal dominant mode inheritance. Six (23.1%) suggested X-linked Seven (26.9%) recessive inheritance; mode, 5 mode. 3 displayed more complex Conclusions: study supports role influencing aggregation association represent new risk factor aneurysm growth. Pedigree analysis suggests heterogeneity. primary seems be dominant, but are also evident.