Pectus Excavatum as a Diagnostic Gateway to Marfan Syndrome: Preventing Life-Threatening Complications Through Early Recognition

Pectus excavatum is a characteristic thoracic deformity of Marfan syndrome (MFS) that plastic surgeons often encounter during initial evaluation. Herein, we have described the case of a 2-year-old boy who presented with pectus excavatum. However, the initial assessment did not adequately explore the physical features or family history suggestive of MFS. At the 3-year health checkup, the patient was observed to have long fingers, leading to a referral to pediatrics. Genetic testing revealed that the patient, his sister, and father had a fibrillin-1 (FBN1) mutation. Multidisciplinary management was initiated for the children, and early detection of asymptomatic dilation of the sinus of Valsalva in the father led to preventive aortic root replacement (remodeling procedure). This case illustrates that plastic surgery can serve as an entry point for MFS detection, and insufficient evaluation risks missing life-threatening complications.