Indian Journal of Radiology and Imaging Indian Journal of Radiology and Imaging

GYNAECOLOGY AND OBSTETRICS
Year
: 2005  |  Volume : 15  |  Issue : 1  |  Page : 81--84

Pentalogy of cantrell


P Alagappan, A Chellathurai, TS Swaminathan, S Mudali, N Kulasekaran 
 Barnard Institute of Radiology, Madras Medical College, Chennai - 600003, India

Correspondence Address:
P Alagappan
Sai Uttam Apartments(A2) Old No. 52, Palayakaran Street, Kodambakkam, Chennai - 600 024
India




How to cite this article:
Alagappan P, Chellathurai A, Swaminathan T S, Mudali S, Kulasekaran N. Pentalogy of cantrell.Indian J Radiol Imaging 2005;15:81-84


How to cite this URL:
Alagappan P, Chellathurai A, Swaminathan T S, Mudali S, Kulasekaran N. Pentalogy of cantrell. Indian J Radiol Imaging [serial online] 2005 [cited 2019 Sep 18 ];15:81-84
Available from: http://www.ijri.org/text.asp?2005/15/1/81/28753


Full Text

 INTRODUCTION



Thoraco-abdominal ectopia cordis or pentalogy of Cantrell, is a rare congenital syndrome of abdominal wall defect (usually omphalocele), lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect, and intracardiac abnormalities. First described by Cantrell in 1958, the syndrome occurs sporadically, with variable degrees of expression[1],[3]. We report a case of pentalogy of Cantrell diagnosed prenatally in the second trimester.

 CASE REPORT



A 19 year old primigravida, second degree non - consanguinous marriage, married for 9 months with seven months amenorrhoea presented for routine antenatal ultrasound and estimation of gestational age. She had no history of bleeding, pain, or any other complaints. The patient denied significant medical problems, as well as any known history of cardiac or other congenital anomalies in her family. She reported taking no medications. No contributing history of any kind was found.

On transabdominal sonography using Aloka machine with a 3.5 MHz convex probe, we found a single live fetus with measurements corresponding to 24 weeks gestational age. The placenta and amniotic fluid was grossly normal. An unusual finding was noted in the thoraco-abdominal region of the fetus. An anterior thoraco-abdominal wall defect was seen with the contents herniating in to the amniotic cavity with no covering membrane [Figure 1]. The herniation contained the heart, liver, spleen and both small and large bowel loops floating freely in the amniotic cavity [Figure 1]. Umbilical cord was attached to the abdominal wall just below the defect and demonstrated two arteries and one vein. The heart was four chambered and was ectopic with great vessels arising from it and entering into the body cavity [Figure 3]. No pleural or pericardial effusion was seen. The fetal kidneys were normally visualized. No fetal ascites was seen. All the extremities, head and spine appeared normal [Figure 5]. After informed written consent from the patient MR of the fetus was done with 1.5 T Siemens Magnetom machine, which showed the similar findings. Post mortem autopsy showed similar report with an added finding of left sided superior vena cava.

 DISCUSSION



EMBRYOGENESIS

The sternum, abdominal wall, pericardium, and part of the diaphragm arise from somatic mesoderm, while the myocardium arises from splanchnic mesoderm. An event occurring prior to differentiation of

the mesoderm into these two layers could produce defects in all of the involved structures, as seen in pentalogy of Cantrell. Although a specific etiology is unknown, the timing of the event or insult would

be between 14 and 18 days after conception. The proposed embryogenesis postulates a failure of the lateral mesodermal folds to migrate to the midline, causing the sternal and abdominal defects, and failure of the septum transversum to develop, causing defects in the anterior diaphragm and pericardium[3],[5].

DEFINITION:

The complete syndrome is characterized by two major defects: ectopia cordis and an abdominal wall defect (most commonly an omphalocele, but gastroschisis can also be present). The other three defects of the pentalogy are disruption of all the interposing structures: the distal sternum, anterior diaphragm and diaphragmatic pericardium. Incomplete expressions have also been reported.

PREVALENCE:

Very rare. Less than 90 cases have been reported in the literature, and even fewer have had the complete syndrome confirmed.

ETIOLOGY: Unknown. Sometimes associated with chromosomal abnormalities.

 ULTRASOUND DIAGNOSIS



Diagnosis of the complete syndrome requires the five criteria described by Cantrell, but incomplete variant forms exhibiting three or four of the features have been described[1]. The sternal defect can range from absence of the xiphoid to cleaving, shortening, or absence of the entire sternum. The abdominal defect can range from a wide rectus muscle diastasis to a large omphalocele. The most common intracardiac defects are atrial septal defect, ventricular septal defect, and tetralogy of Fallot[6]. The syndrome has been diagnosed prenatally[5],[7],[8], but as the defects range from subtle to severe, the ability to make the ultrasound diagnosis varies. Even at birth, the full extent of the syndrome may not be apparent, as the sternal defect may be minor and therefore without true ectopia cordis. In the case presented, a large open sternal defect with ectopia cordis was contiguous with the upper portion of the large gastroschisis.

 DIFFERENTIAL DIAGNOSIS



Differential diagnosis includes isolated ectopia cordis, isolated abdominal wall defect, amniotic band syndrome, and body stalk anomaly. The syndrome should be considered with any diagnosis of omphalocele or ectopia cordis. The key features for distinguishing these conditions is the position of abdominal wall defect in relation to the umbilical cord, eviscerated organs, the presence or absence of membranes or bands, and associated anomalies. Omphalocele usually involves a midline defect at the umbilical cord insertion with a covering membrane. Gastroschisis is a midline or lateral abdominal wall defect with cord inserted just below the defect. An eccentric large lateral defect and adherence of the placenta to the defect is typically present in body stalk anomalies. The presence of an unexplained ventral wall defect along with extremity deformity with an adherent band suggests amniotic band syndrome.

 PROGNOSIS



In a review of the literature in 1972, Toyama reported a survival rate of 20%. This observation included cases with mild defects and incomplete expressions of the syndrome, and all cases were diagnosed after delivery[1]. In Ghidini"s 1988 report of 17 prenatally diagnosed cases, 6 patients opted for termination, 4 infants were stillborn, 4 infants died in the first four days after delivery, and the

remaining 3 died at one, two and four months. This gave a survival rate of 0%8. These cases were prenatally diagnosed, so the extent of anomalies could have been more severe than those cases detected at birth. Three of the five patients Cantrell reported in 1958 survived, but none of the five had true ectopia cordis[3]. Overall the prognosis appears dismal, but may be related to the extent of the ventral wall, sternal, and cardiac defects.

 ASSOCIATED ANOMALIES



If a diagnosis is made by ultrasound, chromosomal analysis is recommended. Associations with trisomy 18, trisomy 13, and Turner syndrome have been reported[4],[6]. Careful imaging should be performed to rule out associated anomalies. Fetal echocardiography is indicated to evaluate the extent of any intracardiac abnormalities8. Others include cranial and facial anomalies, clubfeet, malrotation of the colon, hydrocephalus, and anencephaly[1].

 MANAGEMENT



In view of the poor prognosis, termination of pregnancy can be considered if ultrasound diagnosis is made before viability. In patients choosing to continue the pregnancy, there is no data indicating improved or changed outcome with cesarean delivery[8].

After delivery, repair of the gastroschisis and omphalocele should not be delayed. Repair of the sternal, diaphragmatic, and pericardial defects can be attempted at the same time. Surgical correction is often difficult secondary to hypoplasia of the thoracic cage and inability to enclose the ectopic heart. Some affected infants have respiratory insufficiency secondary to pulmonary hypoplasia. Recognition and treatment of any intracardiac anomaly is important, as congenital heart disease is a source of major morbidity in infants surviving the neonatal period[6].

RECURRENCE RISK: Unknown. No recurrence has been recorded. One set of monozygotic twins concordant for the syndrome has been reported[2].

References

1Toyama WM: Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome. Pediatrics 50:778-792, 1972.
2Baker ME, Rosenberg ER, Trofatter KF et al: The in utero findings in twin pentalogy of Cantrell. J Ultrasound Med 3:525-527, 1984.
3Cantrell JR, Haller JA, Ravitch MM: A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 107:602-14, 1958.
4Fox JE, Gloster ES, Mirchandani R: Trisomy 18 with Cantrell Pentalogy in a Stillborn Infant. American Journal of Medical Genetics 31:391-394,1988.
5Haynor DR, Shuman WP, Brewer DK: Imaging of fetal ectopia cordis: roles of sonography and computed tomography. J Ultrasound Med 3:25-27,1984.
6Bryke CR, Breg WR: Pentalogy of Cantrell. from Buyse, M.L., Birth Defects Encyclopedia. Blackwell Scientific Publications 1375-76,1990.
7Abu-Yousef MM, Wray AB, Williamson RA, Bonsib SM: Antenatal Ultrasound Diagnosis for Variant of Pentalogy of Cantrell. J Ultrasound Med 6:535-538, 1987.
8Ghidini A, Sirtori M, Romero R, Hobbins JC: Prenatal Diagnosis of Pentalogy of Cantrell. J Ultrasound Med 7:567-572,1988