Archives of disease in childhood · 2026
Diagnosis in children with Marfan syndrome: red flags for early identification.
СтатьяНазвание и аннотация: Перевод в очереди
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Tyvaert Leonie, D'hulst Simon, De Groote Katya, Callewaert Bert, De Wilde Hans, Panzer Joseph, Vandekerckhove Kristof, Muiño-Mosquera Laura
Аннотация
BACKGROUND: Marfan syndrome (MFS) is a multisystemic disorder caused by pathogenic (P) variants in the fibrillin-1 gene (FBN1), 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: This retrospective study included 129 children who underwent genetic testing due to a suspicion of MFS. Personal and family history, clinical features and echocardiographic results were compared between those children where a (likely)P ((L)P) variant in FBN1 was found (n=64) and those with normal genetic testing (n=65).
RESULTS: Children carrying a (L)P variant in FBN1 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.
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: This retrospective study included 129 children who underwent genetic testing due to a suspicion of MFS. Personal and family history, clinical features and echocardiographic results were compared between those children where a (likely)P ((L)P) variant in FBN1 was found (n=64) and those with normal genetic testing (n=65).
RESULTS: Children carrying a (L)P variant in FBN1 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.