\documentclass[10pt]{article}

\usepackage{fullpage}
\usepackage{setspace}
\usepackage{parskip}
\usepackage{titlesec}
\usepackage[section]{placeins}
\usepackage{xcolor}
\usepackage{breakcites}
\usepackage{lineno}
\usepackage{hyphenat}





\PassOptionsToPackage{hyphens}{url}
\usepackage[colorlinks = true,
            linkcolor = blue,
            urlcolor  = blue,
            citecolor = blue,
            anchorcolor = blue]{hyperref}
\usepackage{etoolbox}
\makeatletter
\patchcmd\@combinedblfloats{\box\@outputbox}{\unvbox\@outputbox}{}{%
  \errmessage{\noexpand\@combinedblfloats could not be patched}%
}%
\makeatother


\usepackage{natbib}




\renewenvironment{abstract}
  {{\bfseries\noindent{\abstractname}\par\nobreak}\footnotesize}
  {\bigskip}

\titlespacing{\section}{0pt}{*3}{*1}
\titlespacing{\subsection}{0pt}{*2}{*0.5}
\titlespacing{\subsubsection}{0pt}{*1.5}{0pt}


\usepackage{authblk}


\usepackage{graphicx}
\usepackage[space]{grffile}
\usepackage{latexsym}
\usepackage{textcomp}
\usepackage{longtable}
\usepackage{tabulary}
\usepackage{booktabs,array,multirow}
\usepackage{amsfonts,amsmath,amssymb}
\providecommand\citet{\cite}
\providecommand\citep{\cite}
\providecommand\citealt{\cite}
% You can conditionalize code for latexml or normal latex using this.
\newif\iflatexml\latexmlfalse
\providecommand{\tightlist}{\setlength{\itemsep}{0pt}\setlength{\parskip}{0pt}}%

\AtBeginDocument{\DeclareGraphicsExtensions{.pdf,.PDF,.eps,.EPS,.png,.PNG,.tif,.TIF,.jpg,.JPG,.jpeg,.JPEG}}

\usepackage[utf8]{inputenc}
\usepackage[english]{babel}



\usepackage{float}








\begin{document}

\title{A case of Berry syndrome: a rare congenital cardiac structural
abnormality with one-stage surgical repair}



\author[1]{Shanshan Ma}%
\author[1]{Bi Wen}%
\author[2]{Qi An}%
\author[2]{Xin Zhang}%
\affil[1]{West China Hospital of Medicine}%
\affil[2]{West China Hospital of Sichuan University}%


\vspace{-1em}



  
  \date{May 27, 2024}


\begingroup
\let\center\flushleft
\let\endcenter\endflushleft
\maketitle
\endgroup








\sloppy


\textbf{A case of Berry syndrome: a rare congenital cardiac structural
abnormality with one-stage surgical repair}

Shanshan Ma\textsuperscript{1}, Bi Wen\textsuperscript{1}, Qi
An\textsuperscript{2}, Xin Zhang\textsuperscript{1*}

\textsuperscript{1}Department of Cardiology, West China Hospital,
Sichuan University, Guoxuexiang 37th, 610041 Chengdu, Sichuan, P.R.
China

\textsuperscript{2}Department of Cardiovascular Surgery, West China
Hospital, Sichuan University, 37 Guoxue Lane, Chengdu, Sichuan 610041,
China

\textsuperscript{*}Corresponding Author: Dr. Xin Zhang, MB

E-mail: \emph{zhangxindoc@163.com}

\textbf{ABSTRACT}

Berry syndrome is a complex congenital heart anomaly characterized by a
combination of aortopulmonary window, interrupted aortic arch or
hypoplastic aortic arch or coarctation of the aorta, anomalous origin of
the right pulmonary artery, patent ductus arteriosus, and intact
ventricular septum. It is an extremely rare condition, with
approximately 100 reported cases to date. In this article, we report a
case of a 6-year-old girl with Berry syndrome who presented with
significant ischemic and hypoxic symptoms. She underwent a one-stage
surgical treatment and had a successful discharge.

\textbf{KEYWORDS}

Interruption of the aortic arch; Aortopulmonary window; Berry Syndrome.

\textbf{1 | INTRODUCTION}

Berry syndrome is a rare syndrome characterized by a combination of
congenital heart structural abnormalities, including aortopulmonary
window (APW), aortic origin of the right pulmonary artery (AORPA),
patent ductus arteriosus (PDA), interrupted aortic arch (IAA) or
hypoplastic aortic arch (HAA) or coarctation of the aorta (CoA), and
intact ventricular septum. Since its initial description by Berry et al.
in 1982{[}1{]}, only about 100 cases have been reported in the English
literature to date{[}2{]}.

Patients with Berry syndrome often present with severe pulmonary
hypertension, and the right pulmonary artery dilates due to continuous
left-to-right shunting, leading to potential airway compression
symptoms{[}3{]}. On the other hand, lower limb perfusion in these
patients relies on the ductus arteriosus and collateral circulation,
making them prone to lower limb ischemic symptoms{[}4{]}. Most patients
are diagnosed prenatally or in infancy{[}5{]}, and may present with
cyanosis, respiratory distress, and prominent cardiac murmurs. The
majority of patients require immediate surgical intervention at birth.

Here, we report a case of a 6-year-old girl with Berry syndrome. She was
diagnosed with congenital heart disease at birth but was not confirmed
to have Berry syndrome until the age of 6 when she underwent surgical
treatment.

\textbf{2| CASE REPORT}

The patient is a 6-year-old girl from a farming family in a
non-high-altitude area. She presented with mild cyanosis of the lips at
birth and was initially diagnosed with congenital heart disease. Because
of progressive cyanosis and dyspnea, the patient came to our outpatient
clinic for further diagnosis and treatment. She had normal growth and
development without significant physical or intellectual delays. The
family reported that she was prone to pneumonia and frequently coughed
since birth. Physical examination revealed significant cardiac murmurs,
clubbing of the fingers, and cyanosis of the lips. Electrocardiography
showed sinus rhythm with biventricular hypertrophy and right axis
deviation. Transthoracic echocardiography revealed significant
hypertrophy of both ventricles and the left atrium, with an absent echo
between the left wall of the ascending aorta and the right wall of the
main pulmonary artery (MPA), which measured approximately 18mm. There
was a narrow segment in the isthmus of the aortic arch, measured
approximately 4mm, and interruption of the aortic arch distal to the
left subclavian artery (LSA). The right pulmonary artery (RPA) arose
from the ascending aorta, while the left pulmonary artery (LPA)
originated from the pulmonary trunk. Between the descending aorta and
the left pulmonary artery, there was a prominent PDA with a diameter of
approximately 6mm. The atrial and ventricular septa were intact, valve
function was normal, and the coronary artery origins were normal.
Subsequently, the patient underwent CT angiography, which confirmed the
findings of the echocardiography. Three-dimensional reconstruction
clearly showed a type I APW, type A IAA, and PDA. Four branch vessels
were also visualized, namely the right common carotid artery (RCCA),
left common carotid artery (LCCA), anomalous right subclavian artery
(ARSA), and LSA, which all arose from the proximal end of the
interrupted aortic arch.

Based on the patient's medical history and examinations, a definitive
diagnosis of Berry syndrome was established, and surgical intervention
was indicated. The patient's family requested surgery. A standard
mid-sternotomy approach was performed, revealing abundant collateral
vessels from the main pulmonary artery. During the repair of interrupted
aortic arch, conventional deep hypothermic circulatory arrest and
selective cerebral perfusion were employed. Firstly, the ductus
arteriosus was dissected distally and ligated, followed by excision of
the ductal tissue. The aortic arch and descending aorta were carefully
mobilized, and an end-to-side anastomosis was performed between the
descending aorta and the aortic arch. The anterior wall was reinforced
using a pericardial patch. After the correction of IAA, the RPA was
disconnected. The APW was observed, and the defect was approximately 1cm
from the aortic valve annulus. The origin of the coronary arteries was
normal. Along the edge of the APW, aorta and MPA were separated, while
the RPA was end-to-side anastomosed to the MPA. A bovine pericardial
patch was used, and the incision in the aorta was closed with 6-0
prolene sutures in a continuous manner. Intraoperative transesophageal
echocardiography confirmed continuous flow through the aortic arch and
no shunting between the MPA and the aorta. The patient received further
treatment in the ICU postoperatively and was transferred to a regular
ward after 5 days. A successful evaluation was conducted, and the
patient was discharged 7 days later.

\textbf{3|DISCUSSION}

Berry syndrome is an extremely rare congenital condition, accounting for
only 0.046\% of reported cases of congenital heart structural
abnormalities{[}6{]}. Patients are often diagnosed prenatally or in
infancy, and may present with cyanosis, respiratory distress,
respiratory tract infections, cardiac murmurs, heart failure, and other
systemic symptoms{[}2{]}. Hu et al. suggested that patients should
undergo immediate surgical intervention upon detection, even in the
neonatal period{[}5{]}, in order to avoid irreversible pulmonary
hypertension and progressive right heart failure, which could have
detrimental effects. Additionally, early surgical correction could
restore normal blood supply to the lower body.

The currently widely accepted theory regarding the formation of Berry
syndrome suggests that a significant shunt between the aorta and
pulmonary artery leads to reduced blood flow in the aortic isthmus
during fetal development{[}7{]}. Failure of the aortic septum results in
an aortopulmonary septal defect, which can be located at the proximal or
distal end of the septum. Failure of posterior truncal septation may
disrupt normal blood flow and cause the pulmonary bifurcation to attach
incorrectly to the unseptated truncus arteriosus instead of connecting
to the main pulmonary artery. As a result, the RPA becomes connected to
the aorta, while the LPA becomes connected to the pulmonary
trunk{[}8{]}. According to research by Bi et al., the majority of Berry
syndrome patients have type II APW and type A IAA{[}2{]}.

Echocardiography is a commonly used method for diagnosing complex
congenital heart diseases. As mentioned earlier, some patients with
Berry syndrome can be diagnosed prenatally through echocardiography.
However, these patients are often missed because they usually have a
normal four-chamber heart and outflow tract appearance. The use of the
three-vessel view (3VV) can improve the prenatal detection rate of Berry
syndrome. Additionally, APW is typically easily detected by
echocardiography, therefore, Zhang et al. suggested that when APW is
detected, it is necessary to determine the origin of the RPA and the
morphology of the aortic arch{[}6{]}. For postnatal infants, as these
patients often exhibit easily noticeable symptoms, TTE has become the
primary tool for evaluating Berry syndrome {[}4{]}. Computed tomography
angiography (CTA) with three-dimensional reconstruction and cardiac
magnetic resonance imaging (MRI) can provide comprehensive anatomical
information in patients with Berry syndrome{[}9, 10{]}.

Surgical treatment of Berry syndrome primarily focuses on repairing the
anatomical abnormalities of APW and IAA. Currently, multiple surgical
approaches have been discussed in various centers{[}3, 5, 11{]}. In
general, the surgical process should aim to preserve the growth
potential of the aorta and pulmonary arteries while achieving
unobstructed left ventricular outflow and continuity of the aortic arch,
ensuring no shunting between the main pulmonary arteries.

\textbf{4|CONCLUSION}

In this case, we performed an end-to-side anastomosis between the aortic
arch and descending aorta and directly reimplanted the right pulmonary
artery onto the main pulmonary artery, ensuring normal blood flow and
preserving the growth potential of the pulmonary artery. Three months
later, the patient's first follow-up examination showed favorable
results.

\textbf{AUTHOR CONTRIBUTIONS}

All authors were involved in the conception and design, critical
revision, manuscript writing, final approval, and agreed to be
accountable for all aspects of the work.

\textbf{FUNDING INFORMATION}

No funding was required in the preparation of this case report.

\textbf{DATA AVAILABILITY STATEMENT}

All data generated or analyzed during this study are included in this
published article.

\textbf{ETHICS STATEMENT}

This study is in compliance with the declaration of Helsinki.

\textbf{CONSENT}

Written informed consent was obtained from the patient for publication
of this case report in accordance with the journal's patient consent
policy.

\textbf{REFERENCE}

\begin{enumerate}
\tightlist
\item
  Berry TE, Bharati S, Muster AJ, Idriss FS, Santucci B, Lev M, Paul MH.
  Distal aortopulmonary septal defect, aortic origin of the right
  pulmonary artery, intact ventricular septum, patent ductus arteriosus
  and hypoplasia of the aortic isthmus: a newly recognized
  syndrome.\emph{Am J Cardiol} . 1982;49(1):108-16.
\item
  Bi WJ, Xiao YJ, Liu YJ, Hou Y, Ren WD. Berry syndrome: a case report
  and literature review. \emph{BMC Cardiovasc Disord}. 2021; 6:
  21(1):15.
\item
  Shi XC, Weng JB, Yu J, Ma XH, Pu YQ, Ying LY, Yu JG. Outcomes of
  One-Stage Surgical Repair for Berry Syndrome in Neonates. \emph{Front
  Cardiovasc Med}. 2022;8:790303.
\item
  Li J, Yang Y, Duan X, et al. Berry syndrome: a rare cardiac
  malformation with extra-cardiac findings. \emph{Sci China Life
  Sci.}2017;60(7):772-774.
\item
  Hu R, Zhang W, Liu X, Dong W, Zhu H, Zhang H. Current outcomes of
  one-stage surgical correction for Berry syndrome. \emph{J Thorac
  Cardiovasc Surg}. 2017;153(5):1139-1147.
\item
  Zhang X, Liu XW, Gu XY, et al. Prenatal diagnosis of Berry syndrome by
  fetal echocardiography: A report of four
  cases.\emph{Echocardiography}. 2018;35(4):563-565
\item
  Kutsche LM, Van Mierop LH. Anatomy and pathogenesis of
  aorticopulmonary septal defect. \emph{Am J Cardiol}. 1987;59(5):443-7.
\item
  Haranal M, Srimurugan B, Dinh DM, Sivalingam S. Berry syndrome-a rare
  congenital cardiac anomaly. \emph{Indian J Thorac Cardiovasc Surg}.
  2021;37(5):526-532.
\item
  Jayaram N, Knowlton J, Shah S, Gelatt M, Lofland G, Raghuveer G. Berry
  syndrome: a possible genetic link. \emph{Pediatr
  Cardiol.}2013;34(6):1511-3.
\item
  Mannelli L, Mosca R, Henry G, Srichai-Parsia MB. A case of berry
  syndrome type 2B. \emph{Congenit Heart Dis}. 2011;6(4):389-92.
\item
  Ando M, Ichimori Y, Sakamoto S. Surgical repair in a patient with
  Berry syndrome. \emph{Gen Thorac Cardiovasc Surg}.
  2020;68(12):1475-1478.
\end{enumerate}

\textbf{FIGURE LEGEND}

Figure 1. A, CTA revealed large aortopulmonary window between ascending
aorta and main pulmonary. B, Three-dimensional reconstruction
demonstrated type A interrupted aortic arch and four branches of aortic
arch. C, Three-dimensional reconstruction revealed aortic origin of the
right pulmonary artery and a large patent ductus arteriosus a. (Aao,
ascending aorta; APW, aortopulmonary window; ARSA, Aberrant right
subclavian artery; Dao, descending aorta; MPA, main pulmonary artery;
RPA, right pulmonary artery; PDA, Patent ductus arteriosus; LSA, Left
subclavian artery; LCCA, Left common carotid artery; RCCA, Right common
carotid artery)\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/figure/figure}

\end{center}
\end{figure}

\selectlanguage{english}
\FloatBarrier
\end{document}

