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Pentalogy of Cantrell: A rare congenital abnormality

Dinice Jimenez, PA-C; Richard D. Mainwaring, MD

Dinice Jimenez worked with Richard Mainwaring in the Pediatric Heart Surgery Program, Sutter Medical Center, Sacramento, California, when this article was written. They have indicated no relationships to disclose relating to the content of this article.

CASE

During fetal life, the patient in this case was found to have a two-vessel cord and evidence of a congenital cardiac defect during routine fetal ultrasonography. Fetal echocardiography performed by her pediatric cardiologist at 20 weeks of gestation demonstrated the following congenital cardiac conditions: dextrocardia, double outlet right ventricle, ventricular septal defect, pulmonary stenosis, and malpositioned arteries.

The patient was born at 38 weeks gestation weighing 3.1 kg to a 27-year-old G1P0 woman via normal spontaneous vaginal birth. On physical examination, the baby was noted to have a pulsatile mass (13134.5 cm) extending from the apex of the heart to the umbilicus, with partial exposure of the mass through a defect in the abdominal skin.

Postnatal echocardiography performed on the first day of life confirmed the above diagnosis. In addition, it demonstrated blood flow to and from the pulsatile mass. Radiographs revealed no bony malformations of the chest wall and normal diaphragmatic position. The patient was referred to the pediatric heart surgery service for evaluation and surgical intervention.

Assessment The patient was alert, active, and well- perfused, with oxygen saturations in the high 80s to low 90s. She was breastfeeding well. Her work of breathing was normal, with symmetric chest wall movement, clear breath sounds, and no requirement for supplemental oxygen. Heart rate and rhythm were normal, with a grade 2-3/6 systolic ejection murmur at the right sternal border and a gallop. The abdominal examination was remarkable for a tubular pulsatile mass with an area of superficial erosion near the umbilicus. There was no evidence of internal masses and no organomegaly. Pulses were 2+ in all extremities.

Standard newborn laboratory screening revealed no abnormalities. Chromosomal analysis demonstrated 46,XX normal female karyotype. A chest film showed dextrocardia with minimal cardiomegaly. Bilateral diaphragmatic position was intact. No sternal deformities were noted. Echocardiography showed dextrocardia, D-loop ventricles, atrial situs solitus, a large conal ventricular septal defect, and a double outlet right ventricle with normal venous anatomy (see Figure 1). Doppler turbulence was noted at the apex of the right ventricle, suggesting pulmonary and subpulmonary stenosis.

Treatment On the third day of life, the decision was made to operate because of erosion of the pulsatile mass through the abdominal skin and the desire to avoid infectious complications. The patient was transported from the neonatal ICU to the operating room, where she was given a general anesthetic and intubated (see Figure 2). Using a midline incision, exposure from the apex of the heart along the length of the mass from the xiphoid to the umbilicus was achieved (see Figure 3). The mass was fully mobilized using dissection and electrocautery (see Figure 4). The apex of the heart was exposed, and the mass continued to pulsate in synchrony with the heartbeat. Once the diverticulum was fully exposed, a series of pledgeted sutures were used to ligate the diverticulum at the apex of the heart. The pulsatile movement of the mass then ceased. The diverticulum was excised. Prior to closure, a Gore-Tex membrane was placed over the apex of the heart to facilitate reopening of the patient’s chest during future repair of her congenital heart defects.

Pathology The excised specimen had three layers: myocardium, endocardium, and subcutaneous tissue/skin. The myocardial portion of the diverticulum had no pericardial sac and was in disorganized layers. Final pathology results revealed minimal inflammatory process of the noneroded portion of the diverticulum.

DISCUSSION

Full expression of the pentalogy of Cantrell, or thoracoabdominal ectopia cordis, includes a ventricular septal defect, left ventricular diverticulum, dextrocardia, and an abdominal wall defect, most often in the form of an omphalocele or, less frequently, gastroschisis.¹ There is usually an adjacent finding of anterior diaphragmatic hernia. This patient had an incomplete expression of pentalogy of Cantrell because of the absence of both a diaphragmatic hernia and an abdominal wall defect. Fewer than 170 cases have been discussed in the literature, with the first documented case occurring in 1958, as described by James Cantrell.² Diagnosis is now often made during fetal echocardiography, with the first indication occurring during routine ultrasonography.

In up to 75% of cases, genetic anomalies or additional cardiac and somatic abnormalities accompany the diagnosis of pentalogy of Cantrell.³ Associated defects may include cleft lip/palate, kidney dysplasia, cystic hygroma, and craniorachischisis. In a review of 153 documented cases of pentalogy of Cantrell, Vasquez-Jimenez and colleagues found 83% of patients to have cardiac defects, 74.5% to have associated abdominal wall defects, 60% to have sternal malformations, and 57% to have diaphragmatic defects.⁴

Genetics In the genetics literature, pentalogy of Cantrell as an expression of thoracoabdominal syndrome has been noted to show an X-linked dominant inheritance with lung and diaphragmatic anomalies more common in males.⁵ The definitive etiology of this syndrome is unknown. However, an error of mesodermal origin occurring between days 14 to 18 of embryonic life has been suggested. Accepting this conjecture, parents should be counseled regarding future family planning and the possibility of a genetic link.

Steve Wilson, PA-C, department editor

REFERENCES

1.
Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart: a case report and review of the syndrome. Pediatrics. 1972;50(5):778-792.

2.
Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958;107(5):602-614.

3.
Khanna PC, Bharati A, Merchant SA. Pentalogy of Cantrell or one of its variants. Appl Radiol. 2005;34(10):40-43.

4.
Vazquez-Jimenez JF, Muehler EG, Daebritz S, et al. Cantrell's syndrome: a challenge to the surgeon. Ann Thorac Surg. 1998;65(4):1178-1185.

5.
Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. Am J Med Genet. 1992;42:839-841.