Mutations in the FBN-1 gene are now recognized in academia as the causative agent of Marfan syndrome. A paper published by French scientists in the European Journal of Cardiology examined the risk of cardiovascular disease in people carrying mutations in the FBN-1 gene. In patients with Marfan syndrome and other rare diseases caused by mutations in the FBN-1 gene, genetic testing techniques are useful for detecting the presence of pathogenic mutations early in the disease. 1,191 patients carrying mutations in the FBN-1 gene from 38 countries on five continents were identified in the International Marfan Syndrome Database between 1995 and 2005. The investigators conducted a follow-up study of 965 patients with complete data, with a mean age of 22 years (range: 11-34 years) and 53% of males. Seventy-three percent of these patients had clinical manifestations that met the diagnostic criteria for Marfan syndrome at the time of inclusion in the study, and 27% presented with some of the clinical manifestations of Marfan syndrome, but did not yet meet its diagnostic criteria. Of the patients in this group, 854 (88.5%) exhibited lesions of the cardiovascular system, including ascending aortic lesions alone in 34%, mitral valve lesions alone in 15%, and both ascending aortic lesions and mitral valve lesions in 51%. Simple descending aortic coarctation is less common, accounting for approximately 4% of cases. The proportion of dilated ascending aorta was found to increase progressively with age, with the lesion presenting in 96% of patients by age 60. “Aortic events” (specifically, the occurrence of aortic coarctation and undergoing aortic surgery) were rare until age 20, but thereafter increased progressively with age, reaching 74% of aortic events by age 60. That is, 96% of patients will develop varying degrees of dilatation of the ascending aorta by age 60, while 74% will have an aortic coarctation or undergo aortic surgical treatment by age 60. The risk of aortic dilatation is higher in male patients than in women (57% of men and 50% of women develop aortic dilatation by age 30; of these, 21% of men and 11% of women have aortic coarctation and preventive aortic surgery), which may be related to the greater activity intensity (physical activity and manual labor) in men than in women. In addition, before the age of 60 years, about 77% of patients develop mitral valve prolapse and 61% develop significant mitral regurgitation; the proportion of these symptoms also increases gradually with age, but the proportion of patients requiring surgical treatment for mitral valve lesions alone is lower, about 13%, with no significant gender difference. Therefore, the risk of cardiovascular events in patients with FBN-1 mutations, which persist throughout life and are significantly age-dependent, needs to be taken seriously and therefore requires regular screening. Physicians who see patients with aortic dilatation or aortic coarctation need to be alert to their genetic background, and at any hint of it, need to perform a thorough meticulous physical examination beyond the cardiovascular system (e.g., bones, eyes) and, if necessary, a comprehensive screening of their family members to clarify the cause of the disease for the maximum benefit of the patient and his or her family.