Article ; Online: Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.
2024 Volume 50, Issue 1, Page(s) 94
Abstract: Background: congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it ... ...
| Abstract | Background: congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia. Case presentation: We describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events. Conclusion: Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH. |
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| MeSH term(s) | Humans ; Marfan Syndrome/complications ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Hernias, Diaphragmatic, Congenital/complications ; Fibrillin-1/genetics ; Male ; Female ; Follow-Up Studies ; Adipokines |
| Chemical Substances | Fibrillin-1 ; FBN1 protein, human ; Adipokines |
| Language | English |
| Publishing date | 2024-05-07 |
| Publishing country | England |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 2088556-8 |
| ISSN | 1824-7288 ; 1720-8424 |
| ISSN (online) | 1824-7288 |
| ISSN | 1720-8424 |
| DOI | 10.1186/s13052-024-01643-8 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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