Chantal Stheneur1, Florence Tubach2, Marlène Jouneaux3, Carine Roy4, Gregoire Benoist5, Bertrand Chevallier6, Catherine Boileau7, Guillaume Jondeau8. 1. 1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France. 2. 1] AP-HP, Hôpital Bichat, Département d'Epidémiologie et Recherche Clinique, CIC-EC INSERM CIE801, Paris, France [2] Université Paris 7, Paris, France. 3. AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France. 4. AP-HP, Hôpital Bichat, Département d'Epidémiologie et Recherche Clinique, CIC-EC INSERM CIE801, Paris, France. 5. 1] AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France [2] Université Versailles-SQY, Versailles, France. 6. 1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France [3] Université Versailles-SQY, Versailles, France. 7. 1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] Université Versailles-SQY, Versailles, France [3] AP-HP, Hôpital Ambroise Paré, Laboratoire Central de Biochimie d'Hormonologie et de Génétique moléculaire, Boulogne, France [4] INSERM, U698, Paris, France. 8. 1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] Université Paris 7, Paris, France [3] AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France [4] INSERM, U698, Paris, France.
Abstract
PURPOSE: Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age. METHODS: Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children. RESULTS: Prevalence of skeletal features changed with aging: prevalence of pectus deformity increased from 43% at 0-6 years to 62% at 15-17 years, wrist signs increased from 28 to 67%, and scoliosis increased from 16 to 59%. Hypermobility decreased from 67 to 47% and pes planus decreased from 73 to 65%. Striae increased from 2 to 84%. Prevalence of ectopia lentis remained stable, varying from 66 to 72%, similar to aortic root dilatation (varying from 75 to 80%). Aortic root dilatation remained stable during follow-up in this population receiving β-blocker therapy. When comparing Marfan syndrome children with non-Marfan syndrome children, height appeared to be a simple and discriminant criterion when it was >3.3 SD above the mean. Ectopia lentis and aortic dilatation were both similarly discriminating. CONCLUSION: Ectopia lentis and aortic dilatation are the best-discriminating features, but height remains a simple discriminating variable for general practitioners when >3.3 SD above the mean. Mean aortic dilatation remains stable in infancy when children receive a β-blocker.
PURPOSE: Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age. METHODS: Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children. RESULTS: Prevalence of skeletal features changed with aging: prevalence of pectus deformity increased from 43% at 0-6 years to 62% at 15-17 years, wrist signs increased from 28 to 67%, and scoliosis increased from 16 to 59%. Hypermobility decreased from 67 to 47% and pes planus decreased from 73 to 65%. Striae increased from 2 to 84%. Prevalence of ectopia lentis remained stable, varying from 66 to 72%, similar to aortic root dilatation (varying from 75 to 80%). Aortic root dilatation remained stable during follow-up in this population receiving β-blocker therapy. When comparing Marfan syndrome children with non-Marfan syndrome children, height appeared to be a simple and discriminant criterion when it was >3.3 SD above the mean. Ectopia lentis and aortic dilatation were both similarly discriminating. CONCLUSION: Ectopia lentis and aortic dilatation are the best-discriminating features, but height remains a simple discriminating variable for general practitioners when >3.3 SD above the mean. Mean aortic dilatation remains stable in infancy when children receive a β-blocker.
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