Center for Personalized Genetic Healthcare, Cleveland Clinic.
Division of Genetics and Genomics, The MetroHealth System, Cleveland, Ohio, USA.
Curr Opin Pediatr. 2019 Dec;31(6):694-701. doi: 10.1097/MOP.0000000000000836.
To review the literature and provide a summary of management of syndromic and nonsyndromic aortopathies.
The number of newly identified genetic causes for aortopathies have continued to increase over the past 10 years. The number of reported individuals with most hereditary aneurysm genes is small but increasing with more publications focusing describing the natural history caused by each gene.
Aortopathy can present as an isolated finding or present as part of a larger genetic syndrome. Advances in genetic testing technology has shed light on the increasing importance of molecular diagnostics in the evaluation and management of patients with hereditary aortic disease. Molecular diagnostics and family phenotyping can aide in the diagnosis and management of pediatric patients with aortic disease.
回顾文献，总结综合征型和非综合征型主动脉病变的治疗方法。
过去 10 年来，新发现的导致主动脉病变的遗传病因不断增加。大多数遗传性动脉瘤基因的报道人数较少，但随着越来越多的出版物聚焦于描述每种基因导致的自然病史，这一数字正在不断增加。
主动脉病变可作为单一表现出现，也可作为更大的遗传综合征的一部分出现。遗传检测技术的进步使分子诊断在遗传性主动脉疾病患者的评估和管理中的重要性日益凸显。分子诊断和家系表型分析有助于诊断和治疗患有主动脉疾病的儿科患者。
