Pentalogy of Cantrell with Left Ventricular Diverticulum: A CaseReport and Review of Literaturechd_375 454..457

Navdeep Singh, MD, M.L. Bera, MD, Manvinder S. Sachdev, MD, Neeraj Aggarwal, MD,Raja Joshi, MD, and Vikas Kohli, MD

Pediatric Cardiology and Congenital Cardiac Surgery Unit, Indraprastha Apollo Hospital, New Delhi, India

A B S T R A C T

Pentalogy of Cantrell is a rare congenital anomaly involving deficiency of the following structures: anteriordiaphragm, supraumbilical abdominal wall, diaphragmatic pericardium, lower sternum, and associated congenitalintracardiac abnormality. We describe a 3-month-old child with this syndrome having left ventricular diverticulumalong with omphalocele who presented to us with a pulsating mass in the epigastrium. The defect was evaluated anddefined by computed tomography scan. A team of pediatric, cardiac, and plastic surgeons successfully repaired thedefects. This case report discusses the review of literature along with management options and concludes that theremust be an emphasis on early repair of left ventricular diverticulum to prevent complications. Antenatal ultrasoundcan also detect the anomaly, and early postnatal diagnosis of the syndrome, followed by immediate surgical repair,can prevent lethal complications.

Key Words. Pentalogy of Cantrell; Ventricular Diverticulum; Omphalocele

Introduction

Pentalogy of Cantrell is a rare congenitalanomaly associated with midline defects. The

syndrome consists of defects in the diaphragm, theabdominal wall, the pericardium, the sternum, andthe heart, and therefore the name thoracoabdomi-nal ectopia cordis.1 Several variants and associa-tions of this syndrome have been described. Wereport a child with this abnormality with a leftventricular (LV) diverticulum; all the lesions weredefined and delineated by computed tomography(CT) scan. The child underwent successful repairof the defects by a team of pediatric, cardiac, andplastic surgeons. We also describe the role of CTangiography-based diagnosis.

Case Report

A 3-month-old female child presented with a pul-sating mass extending from her lower chest to herupper abdomen. She had feeding difficulty andhad failed to thrive. On clinical examination, themass was noted to be pulsatile but reducible. Shewas acyanotic, with a saturation of 95%, and hadan ejection systolic murmur of grade 3/6 severity

in the left parasternal area. Chest X-ray revealedcardiomegaly; the diaphragmatic border of thecardiac silhouette was not well defined, and thepulmonary vasculature markings were prominent.Echocardiography revealed double outlet rightventricle, large subaortic ventricular septal defect,and normally related great arteries. In addition,an LV apical diverticulum was also noted. Thiswas further evaluated with a CT scan of the chestand the abdomen, which showed an absent xiphoidprocess, a rectus sheath diastasis, a defect inthe pericardium, and an anterior diaphragmaticdefect. The herniated LV diverticulum wasextending from the diaphragmatic defect up to theepigastric hernial sac (Figure 1).

A multispecialty team including the cardiac,pediatric, and plastic surgeons was constituted tooperate on the child’s defects simultaneously. Theplan included correction of the defects, resectionof the diverticulum, and pulmonary artery (PA)banding. An incision extending from midsternumto the umbilicus was made. Operative findingsincluded mesocardia, in addition to the confirma-tion of the CT scan findings. Omphalocele con-tained the LV diverticulum along with all the

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cardiac wall components but without the pericar-dium, colon, and small intestine. Main PA wasdilated, with a smallish ascending aorta andextremely dextroverted right atrium. LV diverti-culum was dissected, isolated, and resected(Figure 2). The defect in the pericardium, dia-phragm, and anterior abdominal wall was closedusing a polytetrafluoroethylene patch. Finally, PAbanding was performed, and the sternotomy andthe abdominal incision were closed, along with thecreation of an umbilicus.

The child had an uneventful postoperativeperiod and was discharged in excellent clinicalcondition.

Discussion

Pentalogy of Cantrell was first reported byCantrell, Haller, and Ravitch in 1958. Since then,several variations of this condition have beenreported.1 The definition of the syndrome in-cludes two major defects: ectopia cordis and anabdominal wall defect. The latter includes, mostcommonly, an omphalocele, but gastroschisis canalso be present. The other three defects of thepentalogy are disruption of all the interposingstructures: the distal sternum, anterior diaphragm,and diaphragmatic pericardium. Incompleteexpressions have also been reported.

The complete diagnosis of all the defects wasbased on CT scan findings. CT delineation ofall the missing structures was precise enough thatno further investigation was required. Use ofechocardiography and three-dimensional echocar-diography has been reported for the diagnosis ofthe diverticulum and the cardiac structures. Mag-netic resonance imaging has also been used fordiagnosis, including prenatal diagnosis of pental-ogy of Cantrell.2

Cardiac defects noted with pentalogy ofCantrell have included double outlet right ven-tricle, hypoplastic left ventricle, diverticulum ofthe left ventricle, ventricular septal defect, tetral-ogy of Fallot, ostium secundum atrial septaldefect, dextrocardia, pulmonary stenosis or atresia,and other complex malformations.3,4 The presen-tation we have noted with an LV diverticulum hasrarely been reported before.5–8 Although someauthors have considered the cardiac defects to bethe factor determining the outcome, this has beenchallenged by others.9,10

The basic embryological defect behind theseanomalies could be the developmental failure ofmesoderm at early embryonic life between 14 and19 days.11 Differences in timing may explain thevariability in the manifestations of this syndrome.The extent of individual defects and their combi-nations varies considerably. The involvement of

Figure 1. Computed tomography scan reconstruction ofcardiac image with left ventricle (LV) and the diverticulum(DIVERT) from its apex.

Figure 2. Surgical image with heart exposed and diverticu-lum being held up by the surgeon (arrow).

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the mesoderm prior to its differentiation intosplanchnic and somatic layers results in a completepentalogy, while an insult after the differentiationdoes not involve the heart. Pentalogy of Cantrellincludes abnormalities of the heart and of theabdominal wall.

Abdominal wall defects include omphalocele,distasis recti, epigastric hernia, umbilical hernia,and combined defects. Sternal malformationscommonly seen are defective formation of thelower third, bifid sternum, absent xiphoid process,and short sternum. Ventral defects of the dia-phragm and absent pericardium are the commondiaphragmatic and pericardial defects, respec-tively. The syndrome should be considered withany diagnosis of sternal malformations, omphalo-cele, or ectopia cordis, and additional features ofthe syndrome must be looked into. Chromosomalanalysis is recommended as associations withtrisomy 18, trisomy 13, and Turner syndrome havebeen reported.12 Many case reports of prenataldiagnosis have been reported in literature, includ-ing twins.13 The prognosis of patients has beenreported to be poor in most cases. Ghidini et al.described 10 cases of prenatally diagnosedCantrell’s pentalogy, with a uniform fatal out-come.14 Three of the five patients, Cantrellreported in 1958, survived, but none of the fivehad true ectopia cordis.1

The cardiac defect in the index case has beendescribed above. Management issues have beendealt by a multispecialty surgical team involvingcardiac, pediatric, and plastic surgeons. Cardiacmanagement in this case presented with the optionof a PA band vs. a single-stage repair of the cardiaclesion. In view of requirement of cardiopulmonarybypass along with abdominal surgery, it wasdecided that a PA banding, resection of the leftventricular diverticulum, and repair of the extra-cardiac defects be done by the multispecialty team.The child successfully underwent the aboveprocedure.

In conclusion, CT scan is a helpful tool fordiagnosis, and the management of the syndromeincludes repair of the defects by a team. The prog-nosis depends on the associated problems found,so as on early treatment. Early surgical repair isindicated in cases of LV diverticulum, as sponta-neous rupture, arrhythmias, and thrombogenicityof the ventricular diverticulum have all beenreported.5

Corresponding Author: Vikas Kohli, MD, C-116Sarita Vihar, New Delhi, ND, 110076, India. Tel: (+91)

989 136-2233; Fax: (+91) 11-26941746; E-mail: vkohli_md@yahoo.com

Conflict of Interest: None.

Accepted in final form: September 7, 2009.

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