# “Bubbly heart,” a case report of Morgagni hernia delayed diagnosis in patient with Down syndrome: The hernia is in the details

## TL;DR

This paper reports a rare case of Morgagni hernia in a boy with Down syndrome, highlighting the importance of considering this condition in patients with Down syndrome and respiratory symptoms.

## Contribution

The paper presents a unique case emphasizing the need for increased awareness of Morgagni hernia in Down syndrome patients.

## Key findings

- Morgagni hernia can present with nonspecific symptoms like fever and shortness of breath.
- The case underscores the importance of imaging for accurate diagnosis in Down syndrome patients.
- Delayed diagnosis is common due to the rarity and nonspecific symptoms of the condition.

## Abstract

Morgagni hernia represents a rare form of congenital diaphragmatic hernia (2%-5%), characterized by a defect in the anterior and retrosternal diaphragm. It can be associated with other congenital anomalies, especially in conditions like Down syndrome. Symptoms are often nonspecific, and diagnosis can be missed. Imaging plays a main role in diagnosis. We describe a case of a young boy with Down syndrome suffering from fever and shortness of breath. In the appropriate clinical scenario, it is important to consider this entity among the differential diagnoses of Down syndrome patients with respiratory disease.