How to Assess the Risk of Cardiac Surgery in Pediatric Patients with Marfan Syndrome Based on Clinical Phenotype

All articles of this category (opens in new window) Background: Many patients with Marfan syndrome (MFS) require cardiac surgery during their lifetime, most commonly aortic root replacement or mitral valve reconstruction/replacement. These procedures are rare in children/adolescents, making early identification of patients who may benefit from timely surgical intervention particularly important. This study aimed to identify clinical variables associated with an increased risk of early cardiac surgery. Methods: Since 2008, 1,006 children have been evaluated at our Marfan clinic, 214 patients with a pathogenic FBN1 variant (12.4 ± 5.7 years; m: 49.5%). The surgical group comprised 20/214 patients (11.5 ± 5.5 years; m: 70%) who underwent valve-sparing aortic root replacement (10/20, 14.0 ± 5.5 years), mitral valve surgery (4/20, 11.7 ± 0.8 years), or both (6/20, 10.5 ± 4.7 years). The nonsurgical group included 194/214 patients (12.5 ± 5.7 years; m: 47.4%). There were no differences between the two groups in terms of sex or age. Binary logistic regression was performed to identify risk factors for early cardiac surgery. Variables included MFS-typical facial features, wrist/thumb sign, pectus excavatum, pectus carinatum, scoliosis, pes planus, hindfoot deformity, ectopia lentis, myopia, pneumothorax, and striae atrophicae (Gent Nosology). Results: We identified strong associations between specific phenotypic features and the need for early cardiac surgery in MFS children. Patients presenting with MFS-typical facial features (OR: 5.03; 95% CI: 1.57–16.09; p = 0.006), pes planus (OR: 4.27; 95% CI: 1.04–17.51; p = 0.04), hindfoot deformity (OR: 5.54; 95% CI: 1.61–19.04; p = 0.007), or myopia (OR: 4.29; 95% CI: 1.04–13.13; p = 0.01) had a significantly higher risk of undergoing surgery during childhood. Conclusion: This study demonstrates that distinct phenotypic characteristics, including MFS-typical facial features, pes planus, hindfoot deformity, and myopia, are powerful predictors of early cardiac surgery in children with MFS and highlight a robust link between musculoskeletal and ocular features and early cardiovascular morbidity. Early recognition of these features provides a valuable opportunity for risk stratification, closer clinical surveillance, and timely initiation of pharmacological therapy to delay surgery. Our results underline the importance of integrating simple clinical observations into early management strategies for MFS patients. These consistent results can provide a solid basis for the development of a risk score to predict the necessity of cardiac surgery in pediatric MFS patients. Publication History Article published online: 17 February 2026 © 2026. Thieme. All rights reserved. Georg Thieme Verlag KG Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany