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\begin{document}

\title{Congenital Lobar Emphysema: A diagnostic dilemma with co-existent
Congenital Heart Defects}



\author[1]{Jigar Thacker}%
\author[2]{Vishal Bhende}%
\author[2]{Tanishq Sharma}%
\affil[1]{Department of Pediatrics, Pramukhswami Medical College, Bhaikaka University, Shree Krishna Hospital, Bhaikaka University, }%
\affil[2]{Pramukhswami Medical College}%


\vspace{-1em}



  
  \date{May 17, 2024}


\begingroup
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\sloppy


Congenital Lobar Emphysema: A diagnostic dilemma with co-existent
Congenital Heart Defects

\textbf{``Written informed consent was obtained from the patient to
publish this report in accordance with the journal's patient consent
policy''~}

Short running title: Congenital Lobar Emphysema with Congenital Heart
Defect

\textbf{Authors:}

Jigar P. Thacker\textsuperscript{1}, Vishal V.
Bhende\textsuperscript{2}, Tanishq S. Sharma\textsuperscript{2}

\textsuperscript{1}Associate Professor, Department of Pediatrics,
Pramukhswami Medical College, Bhaikaka University, Shree Krishna
Hospital, bhaikaka university, Gokal Nagar,Karamsad,Anand,Gujarat-388
325,India.

E mail -- thackerjigar@yahoo.co.in

\textsuperscript{2}Department of Pediatric Cardiac Surgery, Bhanubhai
and Madhuben Patel Cardiac Centre, Shree Krishna Hospital, bhaikaka
university, Gokal Nagar,Karamsad,Anand,Gujarat-388 325,India.

E mail -- drvishalbhende@gmail.com

\textbf{Corresponding Author:} Vishal V. Bhende Department of Pediatric
Cardiac Surgery, Bhanubhai and Madhuben Patel Cardiac Centre, Shree
Krishna Hospital, bhaikaka university, Karamsad,Anand,Gujarat-388 325,
India

E mail: drvishalbhende@gmail.com; Phone:+91 98453 83405

\textbf{Author Contributions:}

\textbf{Data Curation:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Formal Analysis:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Funding Acquisition:} Jigar P. Thacker, Vishal V. Bhende,

Tanishq S. Sharma

\textbf{Investigation:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Methodology:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Project Administration:} Jigar P. Thacker, Vishal V. Bhende

Tanishq S. Sharma

\textbf{Resources:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Software:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Supervision:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Validation:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Visualization:} Jigar P. Thacker, Vishal V. Bhende

\textbf{Writing-Original Draft Preparation:} Jigar P. Thacker, Vishal V.
Bhende

\textbf{Writing -- Review \& Editing:} Jigar P. Thacker, Vishal V.
Bhende



\textbf{Acknowledgments}

Nil

\textbf{Funding statement:}

All authors have declared that no financial support was received from
any organization for the submitted work.

\par\null

\textbf{Conflict of interest statement:}

All authors have declared that they have no financial relationships at
present or within the previous three years with any organizations that
might have an interest in the submitted work.~All authors have declared
that there are no other relationships or activities that could appear to
have influenced the submitted work.

\textbf{Transparency statement:}

The corresponding author confirms that manuscript is an honest,
accurate, and transparent account of the study being reported; that no
important aspects of the study have been omitted; and that any
discrepancies from the study as planned have been explained.



\textbf{Data availability statement :}

The data that support the findings of this study are openly available in
{[}\textbf{DOI:~10.22541/au.168261292.28643687/v1} {]} at, reference
number {[}reference number{]}.

\textbf{Informed consent statement :}

Statement of patient informed consent for all the participants involved
in the study was waived off as the data collected was retrospective and
based on observational inputs. After perusal, Institutional Ethics
Committee -2 (IEC-2), approved the project vide letter
IEC/BU/2022/Cr.04/125/2023 dated 26.04.2023.



\textbf{Abstract}

Congenital lobar emphysema (CLE) is a rare and life-threatening lung
anomaly that often poses a diagnostic dilemma. Co-existent congenital
heart defects (CHD) with left-to-right shunts can further complicate the
diagnosis of CLE. The presence of underlying CLE may only be suspected
after the repair of CHD. Here, we discuss a 2-month-old patient who
presented with respiratory distress and was identified to have a large
ventricular septal defect (VSD) and patent ductus arteriosus (PDA).
After the successful repair of the cardiac defects, the infant continued
to experience respiratory distress and failure to thrive. CLE was
subsequently diagnosed on imaging.

\textbf{Key Words:}

Left-to-Right shunt, CT scan lung, Right middle lung lobe, Ventricular
Septal Defect, Patent Ductus Arteriosus, Respiratory distress, Failure
to thrive, Congenital lobar emphysema.



\textbf{Introduction}

Congenital lobar emphysema (CLE) is a rare and life-threatening anomaly
of the lung characterized by hyperinflation of at least one lung lobe.
The incidence of CLE is approximately 1 in every 20,000 to 30,000 live
births, with a 3:1 male preponderance\textsuperscript{1,2}. The
hyperinflated lobe compresses the surrounding normal lung tissue,
causing atelectasis and leading to ventilation-perfusion mismatch and
hypoxia. It usually presents in early infancy with respiratory
distress\textsuperscript{3,4}. The most common site of lobe involvement
is the left upper lobe (43\%), followed by the right middle lobe(32\%),
and the right upper lobe (21\%).

Congenital heart defects (CHD) can present in around 14--20\% of CLE
cases, with ventricular septal defect (VSD) being the most commonly
associated anomaly\textsuperscript{1,4}. The clinical presentation of
CLE and most CHDs is similar and manifests in infancy.As CHD is more
common, it is usually detected first.Often, the diagnosis of CLE may get
overlooked in the presence of CHD\textsuperscript{5,6}. Here, we present
a case in which the presence of CLE was established after the corrective
repair of a large perimembranous VSD with a moderate patent ductus
arteriosus (PDA).



\textbf{Case Presentation}

A one -- month -- and -- twenty -- four -- day - old male presented with
cough, tachypnea, and minimal chest retraction of short duration. The
child was afebrile and exhibited moderate activity and sucking. The
child's weight and height on admission were 3.5 kgs. and 52 cms.,
respectively, and both of the parameters were \textless{}
3\textsuperscript{rd} percentile. His birth weight was 2.6 kgs.,
suggesting poor weight gain. The child was on mixed feed (breastfeeding
and cow's milk) from one month of age. The X-ray chest demonstrated
right upper lobe pneumonia (Figure 1).\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image1/image1}

\end{center}
\end{figure}

\textbf{Figure 1} X-ray chest Postero-anterior (PA) view at 2 months of
age reported as right upper zone pneumonia.

The child was administered low-flow oxygen and empiric antibiotic
therapy. The septic screen and blood culture results were negative. A
faint murmur was appreciated at the left parasternal region with a loud
S\textsubscript{2}. 2D echocardiography revealed a large perimembranous
VSD with moderate PDA and severe pulmonary arterialhy pertension (PAH).
Furosemide and spironolactone administration was initiated, and it was
determined that definitive repair could be planned after the infant
exhibited sufficient weight gain. The child was weaned off oxygen and
discharged after 7 days.

On regular subsequent follow-ups, however, the child persisted to
experience cough and tachypnea, as well as growth failure. Hence,
definitive cardiac surgery was performed at the age of 3 months and 7
days.The infant underwent glutaraldehyde-treated pericardial patch
closure of the ventricular septal defect along with patent ductus
arteriosus ligation. The surgical procedure was uneventful.

The child continued to exhibit cough, tachypnea, occasional retraction,
and growth failure after undergoing definitive cardiac surgery. Repeated
evaluations ruled out the presence of infection or congestive cardiac
failure. Serial echocardiography confirmed the success of the cardiac
repair. The child was subsequently lost to follow-up for almost 3
months.

The follow-up was resumed at around 7 months and 15 days of age, with
the persistence of the above complaints. The infant was admitted several
times to a different healthcare facility. He continued to grow poorly,
with a weight of 5.1 kgs. and a length of 62 cms. On repeat X-ray chest
evaluations, hyperlucency of the right middle lobe and crowding of both
the right upper and lower lobes were noted. (Figure 2)\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image2/image2}

\end{center}
\end{figure}

\textbf{Figure 2} X-ray chest Postero-anterior (PA) view showing clear
hyperluceny of the right middle lobe with crowding of right upper and
lower lobe with mediastinal shift. Sternal wires from the previous heart
surgery can be made out.

CT scan confirmed the presence of Congenital Lobar Emphysema involving
the right middle lobe. (Figure 3,4)\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image3/image3}

\end{center}
\end{figure}

\textbf{Figure 3} Pre-operative Coronal reformatted High-resolution
Computed Tomography (HRCT) scan shows congenital lobar emphysema of
right middle lobe.

(Image Credits: Dr. Viral B. Patel)\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image4/image4}

\end{center}
\end{figure}

\textbf{Figure 4} Axial view HRCT lung image conforming the presence of
congenital lobar emphysema of right middle lobe.

(Image Credits: Dr. Viral B. Patel)

Right middle lobe resection was performed at 8 months and 9 days of age.
The infant was placed in the left lateral position, and the chest cavity
was entered through the right 4th intercostal space. Dissection was done
using the Reverse Chamberlain Method from the periphery toward the hilum
all around the fissure.The right middle lobe vein was identified and
ligated proximally, and its branches were tied individually. The right
middle lobe artery entering the right middle lobe was identified, and
its branches were isolated. Hemostasis was achieved by controlling the
brisk nature of bleeding using electro-cautery. A bronchial clamp was
applied after the right middle lobe bronchus was slung by the rubber
tubes. The right middle lobe bronchus was divided proximal to the
bronchial clamp. Single-lung anesthesia was commenced. The divided
bronchial stump was closed with multiple interrupted vertical mattress
5/0 polypropylene sutures. The stump's integrity was checked underwater
with sustained ventilation. A minor leak was noted from the lung
parenchymal surface, and no leak was noted from the bronchial stump. The
right upper lobe and right lower lobe surfaces were sutured together
with two interrupted polypropylene pledgetted sutures. The specimen was
sent for histopathological examination (Figure 5, a and b),\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image5/image5}

\end{center}
\end{figure}\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image6/image6}

\end{center}
\end{figure}

\textbf{Figure 5} -- (a) Intra-operative image showing expanded right
middle lobe, (b) Excised right middle lobe of lung

(Image Credits: Dr. Vishal V. Bhende)

which was consistent with the radiological diagnosis.The infant remained
asymptomatic,with neither tachypnea nor retraction. X-ray and
high-resolution CT scans of the lungs revealed adequate expansion of the
right lung, with both the upper and lower lobes expanding effectively
and filling the space left by middle lobe resection at 5 years of age
(Figures 6,7). The post-operative clinical course was unremarkable.\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image7/image7}

\end{center}
\end{figure}

\textbf{Figure 6} Post-operative X-ray chest showing good expansion of
right sided lung with filling of the gap of the right middle lobe
resection with right upper and lower lobes in the immediate
post-operative period.\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image8/image8}

\end{center}
\end{figure}

\textbf{Figure 7} Post-operative X-ray chest showing good expansion of
right sided lung with filling of the gap of the right middle lobe
resection with right upper and lower lobes demonstrated @ 5 years of age
on follow-up.

Weight gain was observed during the subsequent follow-up.
high-resolution computed tomography performed on follow-up at 5 years of
age showed normally ventilated lungs (Figures 8,9).\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image9/image9}

\end{center}
\end{figure}

\textbf{Figure 8 Post-operative Coronal CT Image show normal lung
parenchyma}

(Image Credits: Dr. Viral B. Patel)\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image10/image10}

\end{center}
\end{figure}

\textbf{Figure 9 Post-operative HRCT Axial Image showing normally
aerated lungs}

(Image Credits: Dr. Viral B. Patel)



\textbf{Discussion}

The association between congenital heart defects and CLE is well known,
and large left-to-right shunts are commonly associated with CHD. Cough,
tachypnea, and respiratory distress in early infancy are the usual
clinical presentations in both conditions. As CHD is more prevalent, it
is often suspected and diagnosed first. In cases where the entire
clinical constellation is attributed to CHD, the presence of CLE is only
detected after correction of the CHD. Similar cases have been reported
in the past\textsuperscript{6,7}.

The etiology of CLE remains unknown in almost half of the cases. Absent
or dysplastic bronchial cartilage is evident in one-fourth of the cases.
Internal obstruction or external compression of the lobar bronchus due
to various causes is postulated in the remaining cases. These defects
cause a ball valve effect and air trapping during expiration with
progressive hyperinflation of the affected lung lobe. The hyperinflated
lobe may compress the surrounding normal lobes. In patients with severe
disease, the hyperinflated lung lobe can herniate to the surrounding
lobes as well as to the opposite thoracic cavity with tracheal and
mediastinal shifts. This reduces the respiratory reserve and causes a
ventilation/perfusion mismatch with resultant
hypoxia\textsuperscript{1,3}.

In the embryo, the development of the bronchial cartilage occurs during
the 4\textsuperscript{th} to 6\textsuperscript{th} intrauterine weeks.
This time coincides with the developmental stage of cardiac chamber
septation. Thus, a defect during this stage can affect both the heart
and lungs\textsuperscript{1}. CLE is usually secondary to bronchial
compression due to aberrant or dilated pulmonary vessels owing to
pulmonary hypertension in the presence of a large left-to-right shunt.
In this case, CLE may get resolved with the correction of the underlying
CHD\textsuperscript{5,6}.

CLE continues to pose a diagnostic dilemma. The initial diagnostic
modality is usually a chest X-ray. The affected lung lobe is hyperlucent
with atelectasis of the adjacent lung lobes due to compression, and a
mediastinal shift can be seen. Though all the features are not evident
at an early age, X-ray findings are often misreported as pneumonia owing
to the crowding of the surrounding lobes, and the hyperlucency of the
affected lobe may get reported as a pneumothorax. A CTscan of the lung
is confirmatory and delineates anatomical details. Bronchoscopy may aid
the diagnosis when an internal bronchial obstruction is
suspected\textsuperscript{1-4}.

Treatment of CLE involves the surgical resection of the affected lobe.
Conservative management is proposed for older children with no or
minimal symptoms. Infants with persistent distress are ideal candidates
for surgery. The surgery is generally well tolerated, with low mortality
and favorable outcomes\textsuperscript{2,8}. In the case of concomitant
CLE and CHD, there are diverging views regarding the defect to be
repaired first, or whether a combined lung and cardiac repair is the
ideal approach. An individualized approach has been suggested. CLE often
gets corrected with the relaxation of the vascular compression, the
repair of the large left-to-right shunt, and the reduction of pulmonary
hypertension\textsuperscript{5,9}.

In the present case, the child presented with respiratory distress.
During the assessment, clinical suspicion led us to perform 2D
echocardiography, which revealed a large VSD with moderate PDA and PAH.
The presence of a congenital lung defect was overshadowed by the
presence of a large cardiac defect. The symptoms were obviously
contributed to the heart defect.The X-ray findings were initially
interpreted as being due to pneumonia. As seen in Figure 1 (2 months of
age), there is no obvious hyperlucency of the right middle lobe; rather,
haziness is evident in the right upper lobe. In contrast, a later
X-ray\textbf{(} Figure 2), performed at 7 months of age, clearly
demonstrated a large hyperlucent area in the right middle lobe with
surrounding lobe crowding and mediastinal shift.In retrospect, we could
discern the faint hyperlucency in Figure 1, which was initially missed.
We believe that the X-ray chest, being a basic investigation, is often
given less attention, particularly when another advanced diagnostic
modality has suggested an alternate diagnosis.

CLE is a diagnostic challenge, and the confusion can be further
augmented in the presence of an obvious large congenital heart defect.
Regular follow-up and a high index of suspicion are necessary for early
diagnosis. Lobectomy can lead to dramatic improvement and is generally
well tolerated.



\textbf{Conclusion}

Congenital lobar emphysema is a diagnostic challenge, especially in the
setting of an obvious large congenital heart defect. Regular follow-up
and a high index of suspicion are necessary for early diagnosis.
Lobectomy can lead to dramatic improvement and is well tolerated.



\textbf{Key Clinical Message}

Congenital lung anomalies such as congenital lobar emphysema can be
missed in young children presenting with respiratory distress in the
setting of left-to-right shunts. Advanced imaging such as CT scans are
important to confirm the diagnosis.

I am the submitting author and corresponding author. I have provided
ORCID IDs of all the co-authors including me.

\begin{itemize}
\tightlist
\item
  \textbf{Jigar P. Thacker https://orcid.org/0000-0001-5213-704X}
\item
  \textbf{Vishal V. Bhende https://orcid.org/0000-0003-3014-4315}
\item
  \textbf{Tanishq S. Sharma https://orcid.org/0000-0002-7135-8160}
\end{itemize}



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\end{enumerate}

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