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Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients… Click to show full abstract
Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients with Marfan syndrome highlighting the vital importance of promptly referring paediatric first-degree relatives of Marfan syndrome paediatric patients to a tertiary hospital as our results confirm that they are at higher risk of aortic dilatation.
Keywords:
marfan syndrome;
importance;
paediatric cohort;
syndrome paediatric
Journal Title: Cardiology in the young
Year Published: 2023
Link to full text (if available)
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Journal Title: Cardiology in the young
Year Published: 2023
Link to full text (if available)
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recommendations!