Abstract
Early-onset Marfan syndrome is a rare subtype of Marfan Syndrome (MFS), manifesting early in life. Affected individuals typically present with a severe phenotype, with critical signs and symptoms as early as the neonatal or infantile period, most often due to a de novo pathogenic FBN1 variant. We describe a patient with a rare de novo missense variant c.3284G>C (p.(Cys1095Ser)) in exon 27 in FBN1 leading to early onset MFS with severe cardiovascular involvement including heart enlargement with regurgitation of both atrioventricular valves, aortic dilatation and regurgitation manifest from birth, with a fatal outcome.
Original language | English |
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Article number | 101751 |
Journal | Progress in Pediatric Cardiology |
Volume | 75 |
Number of pages | 5 |
ISSN | 1058-9813 |
DOIs | |
Publication status | Published - Dec 2024 |
Bibliographical note
Publisher Copyright:© 2024 The Authors
Keywords
- Cysteine substitution
- Disulfide bond
- Early onset Marfan syndrome
- FBN1
- Heart failure