Disertori M, Bertagnolli C, Thiene G, Ferro A, Bonmassari R, Girardini D, Casarotto D
Divisione di Cardiologia, Ospedale Civile, Rovereto.
G Ital Cardiol. 1991 Aug;21(8):849-53.
A family is described in which two brothers (44 and 48 years old) had aortic dissecting aneurysms (the first one died, the other one underwent surgical treatment and is still living) in the absence of clinical features of Marfan syndrome and of systemic hypertension. Two of the six living siblings have aortic dilation on echocardiography. Histologic examination of the aortic wall at autopsy or surgery revealed a loss of elastic fibers, deposition of mucopolysaccaride-like material and medionecrosis. We can postulate a genetically-determined disease of connective tissue usually described as "Marfan's forme fruste".
本文描述了一个家族，其中两兄弟（分别为44岁和48岁）患有主动脉夹层动脉瘤（一人死亡，另一人接受了手术治疗，仍在世），且无马凡综合征和系统性高血压的临床特征。六个在世的兄弟姐妹中有两人经超声心动图检查发现主动脉扩张。尸检或手术时对主动脉壁进行的组织学检查显示，弹性纤维缺失、类粘多糖物质沉积和中层坏死。我们可以推测这是一种通常被描述为“马凡综合征顿挫型”的遗传性结缔组织疾病。
