马方综合征的诊断与治疗研究进展

Progress of the diagnosis and treatment of Marfan syndrome

马方综合征(MFS)是一种常染色体显性遗传结缔组织疾病,发病率为2/10000~3/10000。MFS易累及心血管系统、骨骼系统、视觉系统等,其心源性猝死发生率明显高于正常人群。临床主要依据2010年修订版Ghent诊断标准进行诊断,基因检测可以协助诊断。MFS的治疗有内科治疗与手术治疗,内科治疗主要延缓病情发展,改善瓣膜反流;外科手术治疗选择置换主动脉根部及主动脉瓣的Bentall。早期有效诊断、及时干预治疗可以延缓MFS的病理进展。

Marfan syndrome(MFS)is an autosomal dominant connective tissue disease with an incidence of about 2 to 3 in 10000,easily involved in cardiovascular system,skeletal system,visual system and so on.The incidence of sudden cardiac death in MFS patients is significantly higher than that in normal population.Clinical diagnosis is mainly based on the 2010 revised Ghent diagnostic standard,and genetic testing can assist in diagnosis.The treatment for MFS includes medical treatment and surgical treatment.Medical treatment is mainly to delay the development of the disease and to ameliorate valvular regurgitation.Surgical treatment is mainly Bentall operation with replacement of aortic root and aortic valve.Early effective diagnosis and timely intervention can delay the pathological progress of MFS.