Hereditary Disorders Of Connective Tissue-Cardiovascular Features

这项研究检查和列表的所有遗传性结缔组织疾病的临床特征，因为它们属于心血管系统。感兴趣的疾病是马凡氏综合征、埃勒斯-当洛斯综合征（EDS）和斯蒂克勒综合征，以及相关疾病如家族性动脉瘤综合征和纤维肌发育不良。迄今为止，约800例受试者已入组本研究。 检查包括超声心动图、颈动脉内膜厚度测量、踝臂指数和脉搏波传导速度测量、头颈部血管和腹部血管的MRI和MRA。新的发现包括纤维肌性发育不良患者脑动脉瘤的发病率增加，Stickler综合征患者的主动脉根部扩张，以及血管型Ehlers Danlos综合征和Marfan综合征患者的动脉夹层和动脉瘤与内分泌和细胞因子畸变的相关性。 从这项研究中获得的信息不仅有助于治疗受影响的患者，而且还将提供对正常心血管衰老病理过程的见解。

This study examines and tabulates all the clinical features of heritable disorders of connective tissue as they pertain to the cardiovascular system. The disorders of interest are Marfan Syndrome, Ehlers-Danlos Syndrome (EDS) and Stickler Syndrome, as well as related disorders such as Familial Aneurysm Syndromes and Fibromuscular Dysplasia. To date, approximately 800 subjects have been enrolled in the study. The investigations include echocardiography, measurement of carotid intima thickness, measurement of ankle-brachial index and pulse wave velocity, MRI and MRA of the head and neck vessels and abdominal vessels. Novel findings include the increased incidence of brain aneurysms in patients with fibromuscular dysplasia, aortic root dilation in a subset of patients with Stickler Syndrome, and correlation of arterial dissections and aneurysms with endocrine and cytokine aberrations in patients with Vascular form of Ehlers Danlos Syndrome and Marfan Syndrome. The information obtained from this study will not only help the treatment of effected patients, but will also provide insights into the pathological processes of normal cardiovascular aging.