The history of Marfan syndrome (MFS) has been known to mankind for more than a century. In the last three decades, the international medical community has gradually paid attention to the disease and developed and refined clinical diagnostic criteria for MFS. The first international diagnostic standard for MFS was published in 1986, called “Berlin criteria”, which marked the importance of MFS as a disease in the medical community. However, in subsequent clinical practice, the criteria revealed many problems, mainly the overdiagnosis of family members with a family history but no associated manifestations. As a result, the Ghent criteria were discussed and revised in 1996 in Ghent, Belgium, and the “Ghent criteria” were published. The Ghent criteria became the most widely used international clinical guideline for the diagnosis and screening of MFS for more than a decade, setting out multiple primary and secondary criteria for the diagnosis and screening of patients with MFS (primary criteria include severe involvement of the skeletal system, eyes, cardiovascular system, and dural bulge, family history, and secondary criteria include other involvement of the skeletal system, eyes, cardiovascular system, and pulmonary and skin manifestations, etc.), the Ghent criteria require that the diagnosis of MFS must be made with primary criteria from two different systems and secondary criteria from a third system, or with primary criteria from one system and secondary criteria from a second system in the presence of a mutation in the FBN1 gene or a positive family history of a first-degree relative. It effectively avoids the problem of overdiagnosis in the Berlin criteria. However, the age-dependent nature of many lesion characteristics in MFS patients leads to a low diagnostic sensitivity, which is particularly unfavorable in children with a positive family history of MFS. In view of this, the Ghent criteria were further revised and the “Revised Ghent criteria” were reissued in 2010. Compared with the 1996 version, the main differences are as follows: 1. The diagnosis is confirmed by the presence of both aortic root aneurysm/clamping and lens dislocation, while other lesions of the aorta, eye, and other systems such as bone, lung, skin, and dura are scored according to a scoring system (20 points out of 7), and the diagnosis is confirmed when When aortic root lesions are present but not combined with lens dislocation, it is necessary to refer to this score to determine whether the diagnosis of MFS is established; 2. The new criteria provide differential diagnostic ideas for patients who meet the diagnostic criteria for MFS but also have other important clinical manifestations that do not fit MFS. The 2010 revised Ghent criteria are more scientific than the previous two versions, and one of the significant features is the increased emphasis on molecular diagnosis (screening for pathogenic mutations), which provides extremely strong evidence for confirming the diagnosis of MFS once a pathogenic mutation is identified, and helps to screen for the corresponding gene before the onset of disease in other members of the family, which is of great importance.