von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir T S, Treede H, Dodge-Khatami A, Robinson P N, Sheikhzadeh S, Reichenspurner H, Meinertz T
Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
Vasa. 2010 Feb;39(1):17-32. doi: 10.1024/0301-1526/a000002.
Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. However, more than half of patients with Marfan-like features do not have MFS, but have other diseases including inherited aortic aneurysms and dissections (TAAD). We elucidate the increasing spectrum of syndromes associated with Marfan-like features and discuss the clinical implications of these diseases. We performed a systematic review to tabulate all known inherited diseases and syndromes carrying a risk for thoracic aortic disease. We discuss evidence that different syndromes with different causative genes and mutations have different prognoses and profiles of cardiovascular manifestations. We conclude that future decisions for optimized management of patients with inherited TAAD require a comprehensive clinical and genetic work-up.
马凡综合征（MFS）是一种以常染色体显性方式遗传的结缔组织疾病，传统上由编码原纤维蛋白-1（FBN1）的基因突变引起。未经治疗的MFS患者的高死亡率几乎完全源于主动脉并发症，如主动脉夹层和破裂。然而，超过一半具有马凡样特征的患者并非患有MFS，而是患有其他疾病，包括遗传性主动脉瘤和夹层（TAAD）。我们阐明了与马凡样特征相关的综合征谱的不断扩大，并讨论了这些疾病的临床意义。我们进行了一项系统综述，以列出所有已知的具有胸主动脉疾病风险的遗传性疾病和综合征。我们讨论了证据，即具有不同致病基因和突变的不同综合征具有不同的预后和心血管表现特征。我们得出结论，未来对遗传性TAAD患者进行优化管理的决策需要全面的临床和基因检查。
