Abstract Introduction Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation. Case presentation We report the case of a three-month-old Caucasian baby boy, who presented with heart failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the chest led to an incorrect diagnosis of congenital heart disease. Conclusions Even in this era of highly sophisticated diagnostic tools, a simple radiograph can provide sufficient information for a precise, rapid diagnosis.</p

A Latif Al-Arfagj

AE Lin

CP Torfs

E Akè

J Smith

L Berman

L Sahnoun

M Tynan

Paola Neroni

Pier Paolo Bassareo

Roberto Tumbarello

S Eren

Sabrina Montis

W Yang

English

PubMed

Springer - Publisher Connector

Morgagni's diaphragmatic hernia mimicking a severe congenital heart disease in a newborn: a case report

Bassareo, Pier Paolo

Springer

CASE REPORT Open Access
Morgagni’s diaphragmatic hernia mimicking a
severe congenital heart disease in a newborn:
a case report
Pier Paolo Bassareo*, Paola Neroni, Sabrina Montis, Roberto Tumbarello
Abstract
Introduction: Morgagni’s congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our
case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia
presenting with signs and symptoms of severe cardiac malformation.
Case presentation: We report the case of a three-month-old Caucasian baby boy, who presented with heart
failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the chest led to an
incorrect diagnosis of congenital heart disease.
Conclusions: Even in this era of highly sophisticated diagnostic tools, a simple radiograph can provide sufficient
information for a precise, rapid diagnosis.
Introduction
Congenital diaphragmatic hernia (CDH) is a congenital
birth defect involving abnormal development of the dia-
phragm. The condition is produced by a hole in the dia-
phragm, which allows the abdominal contents to
protrude into the chest cavity. Accounting for approxi-
mately 2% of all CDH cases, Morgagni’s CDH is charac-
terized by herniation through the foramina of Morgagni,
located immediately adjacent to the xiphoid process of
the sternum [1,2]. The defect in the diaphragm is gener-
ally located on the right side (90%) or bilaterally (7%);
occasionally it may be on the left side, although the pre-
sence of both heart and pericardium are a barrier against
herniation [3,4]. Most patients are asymptomatic until
adulthood. The lesion rarely presents during the neonatal
period, in which case it leads to severe respiratory dis-
tress, sometimes associated with anomalies in other
organs, including the heart [5,6]. Diagnosis may prove
problematic, as we describe in our case report below.
Case presentation
A three-month-old white Caucasian baby boy, was taken
to our emergency department because of breathing
difficulties. He was born at 34 weeks of gestation after
an uncomplicated vaginal delivery and weighed 2245 g
at birth. He had been diagnosed at another hospital as
having severe congenital heart disease [hypoplasia of the
right ventricle, hypoplasia of the tricuspid valve, and an
ostium secundum atrial septal defect (osASD)], wide-
spread calcification of the left lobe of the liver, and
‘horseshoe’ kidney, for which he was treated with furose-
mide 1 mg/kg twice daily at the time of presentation.
Based on the assumed absence of a normal pumping
right chamber, the possibility of surgical intervention
(bidirectional Glenn shunt at the age of four to twelve
months and possible completion of the Fontan circuit at
one to five years of age) was under consideration.
On clinical examination, our patient was cyanotic and
tachypnoeic (approximately 80 breaths/min), with oxy-
gen saturation of 78%. He was lethargic and hypotonic.
No morphologic alterations to the central nervous sys-
tem were found.
Electrocardiography revealed sinus tachycardia (120
beats/min), and complete right bundle branch block.
Transthoracic echocardiography (Figure 1) revealed a
mild pericardial effusion, with the heart shifted to the
left, and a wide (12 mm) osASD with bidirectional
shunting; hypoplasia of both the right ventricle and
tricuspid valve was also confirmed. Additionally, a
* Correspondence: piercard@inwind.it
Division of Paediatric Cardiology, Giuseppe Brotzu Hospital, P.le Alessandro
Ricchi 1, 09100 Cagliari, Italy
Bassareo et al. Journal of Medical Case Reports 2010, 4:395
http://www.jmedicalcasereports.com/content/4/1/395 JOURNAL OF MEDICAL
CASE REPORTS
© 2010 Bassareo et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited.
moderate right outflow obstruction was detected. Pul-
monary pressure was calculated by Doppler sonography
from the tricuspid insufficiency, and had almost sys-
temic values (65 mmHg). Moreover, the hypocontractile
anterior wall of the right ventricle was compressed by
an anechogenic formation located between heart and
sternum. Furthermore, owing to the absence of a clear
connection between the right pulmonary vein and the
left atrium, an anomalous partial pulmonary venous
drain was suspected.
A posteroanterior and lateral chest X-ray showed the
presence of bowel loops in the chest with mediastinal
shift and compression on the right ventricle (Figure 2,
Figure 3). Computed tomography of the chest confirmed
this diagnosis, showing the abdominal contents passing
through an anterior diaphragmatic defect into the
anterior mediastinum and severely compressing the
right side of the heart (Figure 4).
The child was successfully treated by laparoscopic sur-
gery. Follow-up echocardiography was consistent with
normalization of pulmonary pressure, a normal right ven-
tricle and tricuspid valve, and a persistent osASD with uni-
directional left to right shunt (Figure 5). The child was
Figure 1 Echocardiographic apical four-chamber view. Bowel
loops severely compressing the right side of the heart (white arrow).
Figure 2 Posteroanterior chest X-ray. Bowel loops compressing
the right ventricle of the heart.
Figure 3 Lateral chest X-ray. Bowel loops compressing the right
ventricle of the heart (white arrow).
Figure 4 Computed tomography scan of the chest . The
abdominal contents pass into the anterior mediastinum and
compress the right side of the heart,
Bassareo et al. Journal of Medical Case Reports 2010, 4:395
http://www.jmedicalcasereports.com/content/4/1/395
Page 2 of 4
discharged two weeks after surgery in excellent clinical
condition and with an oxygen saturation of 98%.
Discussion
Morgagni’s congenital diaphragmatic defect, a rare ante-
rior defect of the diaphragm described for the first time
by Morgagni in 1761, is frequently asymptomatic and is
generally diagnosed incidentally during the investigation
of other conditions [7]. Where symptoms are present,
these are usually due to compression of thoracic organs.
Accordingly, patients may present with respiratory dis-
tress. Additionally, recurrent chest infections and gastro-
intestinal symptoms (vomiting, abdominal pain and
bleeding) have been reported in subjects with previously
undiagnosed Morgagni’s hernia. The rarity of this CDH
and the non-specific symptoms may lead to a delay in
diagnosis, particularly in childhood [5,8].
Our patient was in seemingly good clinical health at
birth and during his first three months of life. His chest
X-ray at birth was reported as normal, probably because
the abdominal bowel loops were not yet herniated
through the foramina of Morgagni in the diaphragm. At
about three months, the patient developed acute respira-
tory distress. He was examined first in a small suburban
hospital, where the incorrect diagnosis of congenital
heart disease was posed based on his echocardiography
findings. It was reported in the patient’s notes that chest
radiography had been performed, but possibly because
of the urgency in transferring him to our centre, the
radiological diagnosis was not reported.
Only two cases of a Morgagni’s CDH involving the peri-
cardium and mimicking an intrapericardial tumour have
previously been reported in the literature. Both cases were
diagnosed by fetal echocardiography [9]. In this case
report, our patient, born with Morgagni’s CDH, showed
severe respiratory distress due to both pulmonary hyper-
tension and pulmonary hypoplasia. The first condition is a
restriction of blood flow through the lungs, thought to be
caused by both external compression and anomalies in the
pulmonary alveoli, frequently encountered in this condi-
tion. Pulmonary hypoplasia, or decreased lung volume, is
directly related to the presence of abdominal organs in the
chest cavity, which makes the lungs severely undersized,
particularly on the side of the hernia. In addition, com-
pression of the right ventricle from the front mimicked
echocardiographic findings, suggesting the presence of
right ventricular hypoplasia, a rare life-threatening conge-
nital heart disease. The so called ‘hypoplastic right heart
syndrome’ refers to an underdevelopment of the structures
on the right side of the heart, which causes inadequate
blood flow to the lungs, and consequently cyanosis. Fea-
tures include a very small or hypoplastic right ventricle
(lower chamber which normally pumps blood to the
lungs) and a small tricuspid valve. Atresia of the pulmon-
ary valve and hypoplastic pulmonary artery are usually
associated with this condition [10]. The diagnosis of
anomalous partial venous drainage was based on both the
compression of the atria and consequent dislocation of the
right pulmonary veins.
Conclusions
Morgagni’s CDH is a rare malformation, which is difficult
to diagnose by even the most experienced physicians. In
this previously unreported case, compression of the heart
by the bowel might have led to the incorrect diagnosis of
congenital heart disease. Even in this era of highly sophis-
ticated diagnostic tools, a simple radiograph can provide
sufficient information for a precise, rapid diagnosis.
Consent
Written informed consent was obtained from the patient’s
parents for the publication of his case report and any
accompanying images. A copy of the written consent is
available for review by the Editor-in-Chief of this journal.
Authors’ contributions
PPB carried out the acquisition of data, conception and design. PN was a
major contributor to writing the manuscript. SM critically revised the
manuscript critically. RT had final approval of the version to be published. All
authors have read and approved the final manuscript.
Competing interests
The authors declare that they have no competing interests.
Received: 9 June 2010 Accepted: 8 December 2010
Published: 8 December 2010
References
1. Yang W, Carmichael SL, Harris JA, Shaw GM: Epidemiologic characteristics
of congenital diaphragmatic hernia among 2.5 million California births,
1989-1997. Birth Defects Res A Clin Mol Teratol 2006, 76:170-174.
Figure 5 Echocardiographic apical four-chamber view after
surgery. Normalization of both the right ventricle and tricuspid
valve size. A wide atrial septal defect type ostium secundum is also
evident.
Bassareo et al. Journal of Medical Case Reports 2010, 4:395
http://www.jmedicalcasereports.com/content/4/1/395
Page 3 of 4
2. Torfs CP, Curry CJ, Bateson TF, Honoré LH: A population-based study of
congenital diaphragmatic hernia. Teratology 1992, 46:555-565.
3. Sahnoun L, Ksia A: Morgagni hernia in infancy: report of 7 cases. Arch
Pediatr 2006, 13:1316-1319.
4. Latif Al-Arfagj A: Morgagni’s hernia in infants and children. Eur J Surg
1998, 164:275-279.
5. Berman L, Stringer D, Ein SH, Shandling B: The late-presenting pediatric
Morgagni hernia: a benign condition. J Pediatr Surg 1989, 24:97-972.
6. Lin AE, Pober BR, Adatia I: Congenital diaphragmatic hernia and
associated cardiovascular malformations: type, frequency, and impact on
management. Am J Med Genet C Semin Med Genet 2007, 145 C:201-216.
7. Smith J, Ghani A: Morgagni hernia: incidental repair during laparoscopic
cholecystectomy. J Laparoendosc Surg 1995, 5:123-125.
8. Eren S, Ciris F: Diaphragmatic hernia: diagnostic approaches with review
of the literature. Eur J Radiol 2005, 54:448-459.
9. Akè E, Fouron JC, Lessard M, Boisvert J, Grignon A, van Doesburgh NH: In
utero sonographic diagnosis of diaphragmatic hernia with hepatic
protrusion into the pericardium mimicking an intrapericardial tumour.
Prenat Diagn 1991, 11:719-724.
10. Tynan M: Clinical presentation of heart disease in infants and children. In
Paediatric Cardiology. Volume 1. 2 edition. Edited by: Anderson RH, Baker EJ,
Macartney FJ, Rigby ML, Shinebourne EA, Tynan M. London: Churchill
Livingstone; 2002:273-283.
doi:10.1186/1752-1947-4-395
Cite this article as: Bassareo et al.: Morgagni’s diaphragmatic hernia
mimicking a severe congenital heart disease in a newborn: a case
report. Journal of Medical Case Reports 2010 4:395.
Submit your next manuscript to BioMed Central
and take full advantage of: 
• Convenient online submission
• Thorough peer review
• No space constraints or color figure charges
• Immediate publication on acceptance
• Inclusion in PubMed, CAS, Scopus and Google Scholar
• Research which is freely available for redistribution
Submit your manuscript at 
www.biomedcentral.com/submit
Bassareo et al. Journal of Medical Case Reports 2010, 4:395
http://www.jmedicalcasereports.com/content/4/1/395
Page 4 of 4


Abstract Introduction Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation. Case presentation We report the case of a three-month-old Caucasian baby boy, who presented with heart failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the chest led to an incorrect diagnosis of congenital heart disease. Conclusions Even in this era of highly sophisticated diagnostic tools, a simple radiograph can provide sufficient information for a precise, rapid diagnosis.</p

Montis Sabrina

Neroni Paola

Bassareo Pier

Tumbarello Roberto

Directory of Open Access Journals

Journal of Medical Case Reports

Crossref

GM: Epidemiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births, 1989-1997. Birth Defects Res A Clin Mol Teratol

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3017073

Morgagni's diaphragmatic hernia mimicking a severe congenital heart disease in a newborn: a case report

Abstract

Similar works

Full text

Available Versions

Springer - Publisher Connector

Springer

Springer - Publisher Connector

Directory of Open Access Journals

Crossref