ULTRASOUND CASE REVIEW
Associate Editor: Jennifer R. Marin, MD, MSc
Point-of-Care Ultrasound Diagnosis of Diaphragmatic Hernia
in an Infant With Respiratory Distress
Jessica H. Rankin, MD,* Marsha Elkhunovich, MD,* Dina Seif, MD, and Mikaela Chilstrom, MD
Abstract: Neonatal respiratory distress is an emergent condition with a
wide differential diagnosis. A 12-day-old newborn presented to the emer-
gency department in respiratory distress. Point-of-care ultrasound allowed
clinicians to rapidly exclude cardiac disease and pneumothorax as possible
causes of the patient's respiratory distress, and expedited the identification
of congenital diaphragmatic hernia. The ultrasound findings and tech-
nique, epidemiology, pathophysiology, and radiological diagnosis of con-
genital diaphragmatic hernia are reviewed.
Key Words: point-of-care, ultrasound, congenital diaphragmatic hernia
(Pediatr Emer Care 2016;32: 731733)
CASE
A 12-day-old newborn boy presented to the emergency de-
partment (ED) with 1 day of intermittent cyanosis. The patient
was at his pediatrician's office earlier that morning for a well child
check when the physician noted 2 episodes of perioral cyanosis
and called an ambulance. Upon arrival, the paramedics found an
infant with facial cyanosis, respiratory distress, and an oxygen
saturation of 60% on room air. Although the patient was breath-
ing spontaneously, they administered supplemental oxygen and
transported the patient to the ED. The patient's mother reported
that the child had one previous episode of turning blue in the
face 3 days before presentation and had decreased oral intake
for 1 day. A review of systems was otherwise negative. The infant
was born full term via normal spontaneous abdominal delivery
without complications. There was no relevant family history.
Vital signs on presentation were as follows: heart rate 175
beats per minute, blood pressure 84/56 mm Hg, respiratory rate
70 breaths per minute, oxygen saturation of 89% on room air,
and rectal temperature of 36.8C. Upon arrival in the ED, the
patient was in marked respiratory distress with rapid breathing,
subcostal retractions, and almost complete absence of air move-
ment bilaterally. There was no tracheal deviation. Tachycardia was
appreciated with distant heart sounds, but no murmurs. All extrem-
ities were warm with strong pulses and less than 2-second capillary
refill time. The infant was lethargic, but arousable, and moving all
extremities. The abdomen was soft and nondistended. There were
no visible signs of trauma.
The patient was initially placed on oxygen via a non-
rebreather mask and vascular access was established. A trial
of albuterol and nebulized racemic epinephrine was given with
no improvement in respiratory distress.
From the *Department of Emergency and Transport Medicine, Childrens Hos-
pital Los Angeles; University of Southern California, Keck School of Medi-
cine; Department of Emergency Medicine, Los Angeles County, University
of Southern California, Los Angeles, California.
Disclosure: The authors declare no conflict of interest.
Reprints: Jessica Rankin, MD, Department of Emergency and Transport
Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mail Stop
113, Los Angeles, CA 90027 (email: jrankin@chla.usc.edu).
Supplemental digital contents are available for this article. Direct URL citations
appear in the printed text and are provided in the HTML and PDF versions
of this article on the journal's Web site (www.pec-online.com).
Copyright 2016 Wolters Kluwer Health, Inc. All rights reserved.
ISSN: 0749-5161
Pediatric Emergency Care Volume 32, Number 10, October 2016
Copyright 2016 Wolters Kluwer Health, Inc. All rights reserved.
ULTRASOUND FINDINGS
Given the distant heart sounds and absence of air movement
in bilateral lung fields, a focused point-of-care ultrasound of the
heart and thorax was performed by the pediatric emergency phy-
sician to assess for cardiac dysfunction, pericardial effusion, and
pneumothorax. The heart was not visualized in the expected loca-
tion, but rather was seen in the right hemithorax. Bedside echocar-
diography showed normal left ventricular function without
pericardial effusion or gross anatomical abnormalities. Of note,
the heart maintained a normal orientation of the apex pointing to
the patient's left, making situs inversus unlikely.
Next, the provider performed point-of-care thoracic ultra-
sound of the anterior chest wall. The pleural line was identified
as a bright or hyperechoic line just deep to the ribs. In the right
chest, normal lung sliding was appreciated in all intercostal
spaces, excluding a right pneumothorax (see video, Supplemental
Digital Content (SDC) 1, http://links.lww.com/PEC/A117). In the
left chest, lung sliding could only be seen in the superior one third
of the chest. A transition point was appreciated at the third inter-
space where normal lung sliding was replaced by loops of bowel
(see video, SDC 2, http://links.lww.com/PEC/A118). The remain-
der of the left hemithorax showed a static pleural line and loops
of bowel beneath the parietal pleura with visible peristalsis and
dirty shadowing, which is seen as bright echoes from intraluminal
air with indistinct posterior shadowing (see video, SDC 3, http://
links.lww.com/PEC/A119; Fig. 1).
A portable chest radiograph was performed and confirmed
the presence of diaphragmatic hernia (see figure, SDC 4, http://
links.lww.com/PEC/A120). Due to persistent respiratory distress,
the patient was intubated and transported to the Neonatal Intensive
Care Unit. On hospital day 2, he had a successful surgical repair of
his congenital diaphragmatic hernia (CDH), and was ultimately
discharged home and is doing well.
ULTRASOUND TECHNIQUE
With the patient supine, point-of-care echocardiography was
performed with a 5- to 1-MHz phased array transducer with the
ultrasound machine on the cardiac setting. Point-of-care echo-
cardiography typically consists of 3 cardiac windows: parasternal,
apical, and subxiphoid. We will focus this discussion on the
parasternal window and specifically the parasternal long axis
view. It is important to remember that cardiac location varies
from patient to patient and, in general, the pediatric heart tends
to lie higher in the chest than the adult heart. Place the trans-
ducer just lateral to the sternum in the third or fourth intercostal
space. The directional indicator can either be pointed to the
patient's right shoulder so that the apex of the heart is on the
right side of the screen, or toward the patient's left hip, so that
the apex is on the left side of the screen (standard cardiology
orientation). The pericardium, left atrium, mitral valve, left ven-
tricular outflow tract, right ventricle, and descending thoracic
aorta should be visualized in the parasternal long axis view. In
the setting of pericardial effusion, an anechoic stripe of fluid will
be visualized between the epicardium and the pericardium. Small
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Rankin et al
FIGURE 1. Left anterior inferior chest wall (affected side). Loops of
bowel (hashed arrow) with dirty shadowing (dotted arrow) are
seen deep to the pleura (solid arrow).
effusions should collect posteriorly and inferiorly and should be
visualized on the inferior part of the screen. As the effusion be-
comes larger, it can be seen anteriorly (superior portion of screen)
and circumferentially (Fig. 2).
Cardiac function is typically assessed quantitatively, but
many studies have shown that with practice, visual estimation
can provide an accurate approximation. Specific features to look
for in the parasternal long axis view as indicators of good cardiac
function are as follows: (1) with each contraction, the ventricular
walls should move significantly; (2) as the endocardium moves,
the myocardium should thicken and thin with each contraction;
and (3) as the anterior leaflet of the mitral valve opens, it should
touch or come close to touching the ventricular septum.
After pericardial effusion and poor cardiac function had
been ruled out, we focused our evaluation on the lungs. With
the patient supine, point-of-care thoracic ultrasound was per-
formed with a 13- to 6-MHz high-frequency linear transducer
as this transducer allows for highly detailed images of the pleu-
ral line, and is the preferred transducer in infants. A curvilinear
or phased array transducer is also suitable for thoracic imaging,
maximizing penetration while sacrificing image detail at the
FIGURE 2. Parasternal long axis view of the heart demonstrating a
large pericardial effusion: right ventricle (RV), left ventricle (LV),
left atrium (LA), descending aorta (DA), left ventricular outflow tract
(LVOT), and large effusion (asterisks) are labeled.
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Pediatric Emergency Care Volume 32, Number 10, October 2016
FIGURE 3. Chest wall (normal). Note ribs with acoustic shadow
and hyperechoic pleural line (arrow).
superficial pleural line. Thoracic ultrasound differs from other
point-of-care ultrasound applications in that it primarily relies on
the analysis of ultrasound artifacts created by the interplay be-
tween air and water in the lung, rather than direct visualization
of the lung parenchyma. It is important to remember that fluid will
collect in dependent areas of the body while air will rise to nonde-
pendent areas. In a supine patient, this explains why fluid predom-
inant pathology, such as a pleural effusion, will be detected with
more lateral and posterior probe positioning, whereas air-laden
disorders such as pneumothorax will be detected in the anterior
chest wall. In patients with complex anatomy due to prior surgical
procedures or adhesions, lung pathology may be encountered in
atypical locations. As with any examination, a systematic approach
will minimize oversight.
To evaluate for pneumothorax, begin with the superior ante-
rior chest wall at the midclavicular line. The transducer is placed
sagittally with the directional indicator toward the patient's head.
Place the transducer in the intercostal space. Sonographically,
there will be a bright hyperechoic line flanked by 2 dark, anechoic
shadows (Fig. 3). This represents the pleural line interposed be-
tween 2 ribs. In a normal lung, sliding, or a shimmering to and
fro motion should be seen at the pleural line. In the setting of
pneumothorax, air separates the visceral and parietal pleura and
the parietal pleura is visualized as a static structure without sliding
(see video, SDC 5, http://links.lww.com/PEC/A121). Move the
probe inferiorly to assess the pleural line for sliding at each inter-
space. It is important to remember that 98% of all significant
pneumothoraces will be anterior and inferior in supine patients.1
This same technique is repeated on the opposite side of the ante-
rior chest wall.
Moving beyond the anterior chest wall, it is also important to
examine the lateral fields of the lung as well as costodiaphragmatic
recess. Careful examinations of the lateral lung fields and costo-
diaphragmatic recess are important when considering more fluid-
predominant lung pathology including pleural effusion and
hemothorax. Repeat the technique used on the anterior chest
wall in the lateral aspects of the lung between the anterior and
midaxillary lines. Finally, place the transducer in a coronal
orientation with the directional indicator toward the patient's
head at the costal margin between the midaxillary and posterior
axillary lines. The diaphragm will appear as a bright curved line
that moves with respiration (see video, SDC 6, http://links.lww.
com/PEC/A122). In the setting of pleural effusion, anechoic
fluid will be seen just cephalad to the diaphragm. One helpful
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Pediatric Emergency Care Volume 32, Number 10, October 2016
sign to note when using ultrasound to identify pleural effusion is
the spine sign (see figure, SDC 7, http://links.lww.com/PEC/
A123). In a normally aerated lung, air scatters the ultrasound
beam and obscures the ability to visualize structures deep to the
air. As such, when examining the costodiaphragmatic recess, the
vertebral spine cannot be visualized cephalad to the diaphragm.
With a pleural effusion, normally aerated lung is replaced by fluid,
which allows transmission of the ultrasound beam and visualiza-
tion of the vertebral spine as it travels superiorly.
REVIEW OF THE LITERATURE
The pathophysiology of CDH begins with herniation of
abdominal contents through a diaphragmatic defect. The fetal
diaphragm is complete by 8 weeks gestation and is composed
of the septum transversum and pleuroperitoneal membranes.
Most often, the defect is formed in the posterolateral (Bochdalek)
region on the left side of the diaphragm (85%90%), but can
occur on the right or bilaterally. Antenatal fetal ultrasound cor-
rectly identifies CDH in 70% of cases. Although most CDH
cases are diagnosed prenatally or present at birth, there is a
small percentage (5%25%) that present later.27
The diagnosis of later presenting CDH is complicated by rar-
ity, a wide spectrum of clinical presentation, and inconsistent radio-
logic findings. Later presenting CDH is frequently misdiagnosed
radiographically. The most common incorrect radiographic inter-
pretations include pneumothorax and pleural effusion, prompting
insertion of a chest tube in 47%.3 Twelve (28.6%) of these chest
tube insertions resulted in perforation of the herniated viscera. It
has been suggested that insertion of a nasogastric tube before
radiography, along with the early application of thoracic ultraso-
nography, could decrease time to diagnosis, while also preventing
misdiagnosis and iatrogenic complications.3
The evidence supporting the use of point-of-care cardiac and
thoracic ultrasound is promising and continuing to grow. The
accuracy of visually estimating ejection fraction is well docu-
mented in the cardiology literature. Visual estimation using
2-dimensional echocardiography has not only correlated sig-
nificantly or proved superior to radionuclide angiography, but
has also shown to closely correlate with formal quantitative
echocardiographic methods.810 Point-of-care echocardiogra-
phy by noncardiologists for the evaluation of ventricular func-
tion and the presence of a pericardial effusion has performed
well in both the adult and pediatric Emergency Medicine liter-
ature. In 2 different studies, emergency physicians were able to
accurately assess left ventricular ejection fraction compared to
cardiologists with an overall agreement of 84% to 86.1%.11,12
Pediatric emergency physicians have demonstrated good agree-
ment with cardiologists in the assessment of left ventricular func-
tion as well, with one study reporting a Cohen k of 0.87 and
another reporting a correlation coefficient of r = 0.78 when com-
paring the pediatric emergency physicians' assessment with the
cardiologists'.13,14 In a study of 515 adults evaluated for pericar-
dial effusion, point-of-care ultrasound was accurate in 97% of
cases.15 In a study of 70 patients between 0 and 18 years old, 16
of whom had pericardial effusions, there was good agreement
between pediatric emergency physicians and cardiologists about
the presence of an effusion on point-of-care ultrasound (Cohen k
of 0.73).13
Point-of-care thoracic ultrasound has gained greater appreci-
ation recently as the limitations of auscultation, chest radiography,
and computed tomography are increasingly recognized. The
presence of lung sliding excludes pneumothorax and is more
sensitive than chest radiography in the supine patient.16 If lung
sliding is absent, there are several diagnostic possibilities including
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Copyright 2016 Wolters Kluwer Health, Inc. All rights reserved.
Ultrasound Diagnosis of CDH
pneumothorax, apnea, acute respiratory distress syndrome, or
severe pneumonia. In this patient, the absence of normal lung
sliding in the lower left lung fields, coupled with contralateral
shifting of the heart and the presence of multiple loops of bowel
in the left thorax, increased our suspicion for CDH, rather than
pneumothorax. This enabled the treating physician to quickly
determine the nature of the patient's pathology, narrow the dif-
ferential diagnosis, avoid inappropriate thoracostomy, and guide
emergent treatment.
CONCLUSIONS
This case not only highlights the variable presentation and
difficult diagnosis of later presenting CDH, but also demonstrates
the use of point-of-care ultrasound in the evaluation of neonatal re-
spiratory distress. Point-of-care ultrasound rapidly excluded pneu-
mothorax and cardiac disease from the differential diagnosis. The
results of the ultrasound, in combination with focused history and
physical examination, facilitated a timely and accurate diagnosis
of a rare and critical congenital malformation presenting outside
of the perinatal period.
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