McManus B M, Cassling R S, Soundy T J, Wilson J E, Sears T D, Rogler W C, Buehler B A, Wolford J F, Duggan M J, Byers P H
Department of Pathology, University of Nebraska Medical Center, Omaha 68105.
Am J Cardiovasc Pathol. 1987 Jan;1(1):55-67.
The interaction of elevated blood pressure and aortic metabolism in the genesis of aortic dissection is uncharacterized. A kindred with fatal familial aortic dissection in association with precocious systemic hypertension and in absence of a definable connective tissue syndrome has undergone genealogical, clinical, pathological, and biochemical evaluation. Six family members spanning three generations have died of acute dissection. Five men died at a mean age of 28 years (range 22-34), while the proband's paternal grandmother died at 62 years of age. All were hypertensive. A constellation of subtle clinical features points toward deficient integrity of connective tissues; however, major hallmarks of known connective tissue syndromes including aortic root ectasia or aneurysms are absent. Studies of cultured dermal and aortae fibroblasts of two of the proband's brothers mitigate against Ehlers-Danlos IV syndrome. This family's susceptibility to aortic dissection reflects the synergistic liability of coexistent elevated blood pressure and metabolic abnormalities in the genesis of aortic degeneration.
高血压与主动脉代谢在主动脉夹层形成过程中的相互作用尚不明确。一个患有致命性家族性主动脉夹层的家族，伴有早熟性全身性高血压且无明确的结缔组织综合征，已接受了系谱、临床、病理和生化评估。三代中的六名家庭成员死于急性夹层。五名男性平均年龄28岁（范围22 - 34岁）死亡，而先证者的祖母62岁死亡。所有人均患有高血压。一系列细微的临床特征表明结缔组织完整性不足；然而，已知结缔组织综合征的主要特征如主动脉根部扩张或动脉瘤并不存在。对先证者的两名兄弟的培养皮肤和主动脉成纤维细胞的研究排除了埃勒斯 - 当洛综合征IV型。这个家族对主动脉夹层的易感性反映了在主动脉退变过程中，并存的高血压和代谢异常的协同作用。
