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Background: Management of acute type A intramural hematoma (IMH) remains controversial, varying from immediate surgery to medical management only. Conversion to typical dissection remains a concern. We analyzed our experience managing acute type A IMH., Methods and Results: Between October 1999 and May 2008, 251 patients with acute type A aortic dissection were treated, including 36 (14.3%) with type A IMH. Seven IMH patients (19%) were repaired immediately, 28 (80%) managed initially with optimal medical management and eventual repair and 1 (3%) with medical management only. End points analyzed were early mortality and conversion to typical dissection (flow in the false lumen of the ascending aorta). Time (hours) from onset of symptoms defined initiation of IMH. Early mortality for acute type A IMH was 8.3% (3/36): 14.3% (1/7) with immediate repair and 7.1% (2/28) when optimal medical management with eventual repair was undertaken (P=0.69). The 1 medically managed Asian patient survived with resolution of the IMH. Conversion to type A IMH to typical dissection occurred in 33% (12/36) of cases. No conversions were observed within 72 hours. Aortic diameter did not predict conversion. In actuarial analysis among the initially medically managed group with eventual repair, the hazard conversion to typical dissection increased significantly at 8 days from the onset of symptoms (P<0.05)., Conclusions: Despite optimal medical management, conversion of type A IMH to typical dissection still remains a concern, with the most significant risk beyond 8 days. In our patient population, timely surgical repair is recommended.

Background: Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications. Aneurysms or dissections of the ascending thoracic aorta are the major cardiovascular complications of the disorder. We tested the hypothesis that FBN1 mutations cause thoracic aortic aneurysms or dissections in patients who do not have the Marfan syndrome., Methods and Results: The FBN1 gene was screened for mutations by use of genomic DNA from two patients with thoracic aortic aneurysms who did not have the Marfan syndrome. Individual FBN1 exons were amplified with intron-based exon-specific primers; the DNA fragments were screened for mutations using single-stranded conformational polymorphism analysis; and aberrantly migrating bands were sequenced directly. We identified a missense mutation in one patient, D1155N in exon 27. Dermal fibroblasts from the affected individual were used to study the effect of the missense mutation D1155N on fibrillin-1 cellular processing. The mutation decreased the amount of fibrillin-1 deposited into the pericellular matrix. A second putative FBN1 mutation was identified in the second patient, P1837S in exon 44. Although this alteration was not observed in 234 chromosomes from unrelated individuals, the alteration may represent a rare polymorphism., Conclusions: Results of these studies support the hypothesis that FBN1 mutations cause thoracic aortic aneurysms in patients who do not have the Marfan syndrome. This information is important for understanding the pathogenesis of aortic aneurysms and identification of individuals at risk for developing thoracic aortic aneurysms or dissections.

Background: Development of surgical therapy for aortic aneurysms and dissections has led to treatment of the life-threatening cardiovascular complications associated with Marfan syndrome. The present study determines the effect of surgical therapy on the life expectancy of patients with Marfan syndrome and the clinical course of these patients after aortic aneurysm repair., Methods and Results: Medical records were reviewed on 192 patients with Marfan syndrome who underwent aortic aneurysm repair during the past 26 years; 103 patients were interviewed, and complete preoperative and postoperative medical information was obtained. Survival curves were generated, and data were analyzed. The median cumulative probability of survival was 61 years, significantly increased compared with the median survival of 47 years for patients with Marfan syndrome determined 30 years ago (P < .0006). The majority of patients (53%) had second surgeries to repair subsequent aneurysms or dissections at other sites, the vast majority of which involved the aorta. The most common pattern of aneurysm repair was proximal ascending aortic aneurysm repair, followed by descending thoracic aneurysm surgery. The following variables predicted patients requiring second vascular surgeries: presence of acute or chronic dissection at the time of the first surgery, hypertension after the first surgery, and a history of smoking., Conclusions: The life expectancy of patients with Marfan syndrome undergoing surgical repair of aortic aneurysms has improved and is consistent with increased survival. After initial repair of an ascending aortic aneurysm, a significant number of patients have subsequent surgeries at other sites throughout the aorta, indicating Marfan syndrome is a disease involving the entire aorta. Patients who had a dissection at the time of the first aortic surgery were more likely to require subsequent aortic surgery than were patients who underwent prophylactic composite graft repair of an aortic aneurysm.