Utdrag ur The New England Journal of Medicine:
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Using three-dimensional reconstruction of images from the head to the pelvis obtained by computed tomography with intravenous contrast material or magnetic resonance angiography, we identified aneurysms distant from the aortic root in 53 percent of our patients with Loeys–Dietz syndrome type I; these aneurysms would not have been detected with the use of echocardiography. The majority of these lesions were amenable to surgical repair. This imaging approach also detects arterial tortuosity, a finding of diagnostic importance
In patients with the Loeys–Dietz syndrome, aortic dissection often occurred in childhood and in aortas with diameters well under 50 mm, the threshold above which surgical intervention is currently recommended in patients with Marfan’s syndrome. Given the safety of surgical repair at centers with experienced staff and the availability of the valve-sparing procedure, surgery should be considered for young children — especially those with pronounced craniofacial features — once the maximal dimension of the ascending aorta exceeds the 99th percentile and the diameter of the aortic annulus exceeds 1.8 cm. The use of these criteria allows for the placement of a graft of sufficient size to accommodate growth. For adolescents and adults, surgical repair of the ascending aorta should be considered once the maximal diameter approaches 4.0 cm. This practice may not eliminate the risk of dissection or death, however, and earlier intervention may be indicated, depending on the family history and the patient’s personal assessment of the risks and benefits.
N Engl J Med 2006; 355:788-798August 24, 2006DOI: 10.1056/NEJMoa055695
Länk till hela artikeln: http://www.nejm.org/doi/full/10.1056/NEJMoa055695#t=article