# Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

## TL;DR

A child with Morgagni hernia was found to have Marfan syndrome through multidisciplinary follow-up and genetic testing, highlighting the need for long-term monitoring in such cases.

## Contribution

This case highlights the importance of multidisciplinary follow-up in CDH patients for early detection of Marfan syndrome.

## Key findings

- A child with Morgagni hernia was diagnosed with Marfan syndrome using revised Ghent Criteria.
- A novel heterozygous de novo deletion in the FBN1 gene was identified through Whole-Exome Sequencing.
- Early diagnosis enabled prevention of potential cardiovascular complications.

## Abstract

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.

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.

Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.