Losartan in Marfan Syndrome—Beyond Blood Pressure Lowering Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome. Science 312: 117–121, 2006

[摘要] Marfan syndrome is a disease resulting from a mutation of the gene coding for fibrillin-1 (1), a protein that forms fibrils in the extracellular matrix, thus depleting elastic tissue of a key building block. As a result, the ascending aorta of these patients weakens and enlarges progressively, ending in dissection and fatal rupture, unless prophylactic surgical correction is performed (2). Because microfibrils are also constituents of the suspensory ligament of the lens, the aortic abnormality is typically associated with dislocation of the lens. With considerable phenotypic variation, further features of the syndrome are long, thin, spider-like fingers (arachnodactyly), elevated height with disproportionately long limbs relative to the trunk, hypermobility, and occasionally spontaneous pneumothorax. Untreated aortic dilation is a ticking time bomb: Without surgical replacement of the aortic root (2), the median life expectancy is reduced by half. The only prophylaxis available today are β blockers—without definite proof of their efficacy, but with the underlying rationale that apart from absolute pressure values in the aorta it is also the rise in pressure (dp/dt) that has a deleterious impact on progressive aortic dilation, both parameters of aortic pressure are reduced in parallel by β blockers.

[学科分类] 泌尿医学

[关键词] Bone marrow necrosis;Sickle cell disease;Hyperhemolysis syndrome