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

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.

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Publication Details

Journal
Radiology Case Reports
Published
2025-05-24
DOI
https://doi.org/10.1016/j.radcr.2025.04.108
Primary Topic
Congenital Diaphragmatic Hernia Studies
Type
article
Field-Weighted Citation Impact
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article

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

Fiorentino Mondillo, Valerio D’Agostino, E Federico, Giulia Valente
Radiology Case Reports
Congenital Diaphragmatic Hernia Studies
article

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

Fiorentino Mondillo, Valerio D’Agostino, E Federico, Giulia Valente
article en

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.

Radiology Case ReportsVol. 20(8)
Santissima Trinità (IT), Ospedali Riuniti Umberto I (IT), University of Naples Federico II (IT)
Openalex Percentile: Top 80%
Congenital Diaphragmatic Hernia Studies
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