A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her di...
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Wiley
2017-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/8952428 |
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| author | Elliott J. Carande Samuel J. Bilton Satish Adwani |
| author_facet | Elliott J. Carande Samuel J. Bilton Satish Adwani |
| author_sort | Elliott J. Carande |
| collection | DOAJ |
| description | Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS. |
| format | Article |
| id | doaj-art-a8f9c7e5045f4024ab982eb14eeee179 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-a8f9c7e5045f4024ab982eb14eeee1792025-08-20T03:39:32ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/89524288952428A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary TeamElliott J. Carande0Samuel J. Bilton1Satish Adwani2Department of Medical Sciences, University of Oxford, Level 3, John Radcliffe Hospital, Oxford OX3 9DU, UKDepartment of Medical Sciences, University of Oxford, Level 3, John Radcliffe Hospital, Oxford OX3 9DU, UKDepartment of Paediatric Cardiology, John Radcliffe Hospital, Oxford OX3 9DU, UKNeonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.http://dx.doi.org/10.1155/2017/8952428 |
| spellingShingle | Elliott J. Carande Samuel J. Bilton Satish Adwani A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team Case Reports in Pediatrics |
| title | A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team |
| title_full | A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team |
| title_fullStr | A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team |
| title_full_unstemmed | A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team |
| title_short | A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team |
| title_sort | case of neonatal marfan syndrome a management conundrum and the role of a multidisciplinary team |
| url | http://dx.doi.org/10.1155/2017/8952428 |
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