Hereditary Disorders Of Connective Tissue-Cardiovascular Features

这项研究检查并列表了所有与心血管系统有关的结缔组织遗传性疾病的临床特征。感兴趣的疾病包括马凡综合征、Ehler-Danlos综合征(EDS)和Stickler综合征，以及相关疾病，如家族性动脉瘤综合征和纤维肌肉发育不良。到目前为止，大约有800名受试者参加了这项研究。检查内容包括超声心动图、颈动脉内膜厚度、踝臂指数和脉搏波速度、头颈部血管和腹部血管的MRI和MRA。新的发现包括纤维肌肉发育不良患者的脑动脉瘤发生率增加，斯蒂克勒综合征患者的主动脉根部扩张，以及血管型埃勒斯-丹洛斯综合征和马凡综合征患者的动脉夹层和动脉瘤与内分泌和细胞因子异常的相关性。从这项研究中获得的信息不仅将有助于治疗受影响的患者，还将为了解正常心血管衰老的病理过程提供见解。

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.