Diagnosis in children with Marfan syndrome: red flags for early identification

BACKGROUND: ), associated with life-threatening cardiovascular complications. Early diagnosis enables preventive interventions, yet recognition in children can be challenging. OBJECTIVE: To identify common diagnostic traits in children with MFS that may assist general paediatricians in the recognition of children with MFS and lead to early detection of the disease. STUDY DESIGN: was found (n=64) and those with normal genetic testing (n=65). RESULTS: were significantly younger (7.6±4.2 years vs 11.2±4.5 years, p<0.001) and more often met the revised Ghent criteria based on clinical features (60.9% vs 1.5%, p<0.001). Six key predictors of MFS were identified: percentile height (OR 1.1 (CI 1.0 to 1.1), p<0.001), aortic root z-score ≥2 (OR 2.1 (CI 1.3 to 3.4), p=0.002), positive family history of aortic aneurysms/dissections (positive family history) (OR 8.0 (CI 1.7 to 37.0), p=0.008), increased arm-span (OR 21.0 (CI 1.0 to 443.1), p=0.050), hindfoot deformity (OR 145.7 (CI 7.7 to 2766.6), p<0.001) and ectopia lentis (EL)(41% vs 0%, p<0.001). CONCLUSIONS: In children with clinically suspected MFS, a positive family history, increased aortic root z-score, EL, tall stature, increased arm-span and hindfoot deformity were significant predictors of a molecularly confirmed diagnosis of MFS.