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2013-07-02-09 Pentalogy of Cantrell © Anwer Sadat  Kithir Mohamed TheFetus.net


Pentalogy of Cantrell

Anwer Sadat Kithir Mohamed, DMRD

Tiruvarur medical centre, No 5, Javulikara street, Tiruvarur, Tamil Nadu-610001, India.

Case report

A 26-year-old (G2P1 - previous cesarean section) was reported to our unit for antenatal ultrasound at 28 weeks. Our ultrasonographic examination found a singleton intrauterine gestation with central placenta previa.

The fetus showed a large omphalocele, ectopia cordis, and kyphoscoliosis (Images 1, 2, 3). Transverse scans of the chest clearly showed absent lower anterior chest wall with ectopia cordis. There was no pericardial effusion and intracardiac abnormalities (Video 1).

Examination in long axis revealed omphalocele and chest wall defect with kyphoscoliosis. Side to side movement of probe showed the position of heart lying directly on the liver surface (Video 2).

Diagnosis of Pentalogy of Cantrell was postulated and the pregnancy was 
terminated via cesarean section (XY, 760 g) because of central placenta praevia. The diagnosis was confirmed after delivery and the newborn died one hour later. Fetogram was also done and showed lower sternal defect (Images 5, 6). Autopsy was refused by the parents.

Images 1, 2, 3: 28 weeks of gestation; Pentalogy of Cantrell - the images show fetus with large omphalocele, ectopia cordis and kyphoscoliosis.

 



Videos 1, 2: 28 weeks of gestation; Pentalogy of Cantrell - the videos show fetus with large omphalocele, ectopia cordis and kyphoscoliosis.

 

Video 3: Postnatal appearance of the newborn with Pentalogy of Cantrell - large omphalocele and pulsation of the ectopic heart can be seen.



Images 4, 5: Postnatal X-ray of the newborn with Pentalogy of Cantrell.

 

Definition
 
Pentalogy of Cantrell represents a syndrome of variable expression and its complete form shows the following five defects:
  1. supraumbilical abdominal wall defect with omphalocele;
  2. lower sternal defect;
  3. ectopia cordis;
  4. anterior diaphragmatic defect;
  5. diaphragmatic pericardial defect and intracardiac abnormalities.
Sonographic findings

Diagnosis of Pentalogy of Cantrell can be postulated as early as during the first trimester ultrasonographic examination, or better to say at the end of the first trimester, according to its typical findings. The size of the supraumbilical defect ranges from muscle diastasis to a large defect with omphalocele. Sternal defect also ranges from absence of xyphoid cleavage to absence of the entire sternum. Intracardiac abnormalities are often present.

Based on the spectrum of expression, Toyama divides the pentalogy in three classes:

Class 1 - complete form of the syndrome, having all the five defects;
Class 2 - with four defects including ventral wall and intra cardiac abnormalities;
Class 3 - incomplete form having various combination of defects but with sternal abnormality [3].

History

First described by Cantrell in 1958. Toyama classified the pentalogy in 1972.

Synonyms

Thoraco-abdominal ectopia cordis; 
Cantrell-Heller-Ravitch Syndrome; Pentalogy Syndrome; Peritoneopericardial diaphragmatic hernia.

Etiology and pathogenesis

Cantrell et al suggested an embryologic developmental failure of a segment of lateral mesoderm around 14 - 18 days of gestational age [1]. As various phenotypes of abdominal wall defect exist, multiple factors are probably involved in the pathogenesis - teratogens, gene mutations, disrupted vessels defects and chromosomal abnormalities such as trisomy 13 and 18 [8,11]. X-linked inheritance, mutation of TAS gene  at Xq25-q26.1 area, is also mentioned to has a roll in some cases [9,10,11,12]. Exact etiology  is unknown and the syndrome is considered to be heterogeneous in origin.

Prevalence

Rare.
 
 
Associated anomalies

Encephalocele, cleft lip/palate, hydrocephalus, craniorachischisis, anencephaly, holoprosencephaly, c
lub foot, absence of tibia or radius, hypodactyly, kyphoscoliosis, malrotation of colon, gallbladder agenesis and polysplenia [2, 4].

Differential diagnosis

Isolated  omphalocele, isolated thoracic cardiac ectopy, body stalk abnormality, ectopia cordis with amniotic band syndrome, OEIS complex (comprises a combination of defects including omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects)).

Recurrence risk

Unknown. As mentioned earlier, X-linked inheritance was reported in 1990 by Carmi et al [12]. Martin et al in 1992 reported a variable degree of expression of ventral fusion abnormalities in three consecutively born brothers [9]. 
These factors should be kept in mind while counseling the patients.

Management

Termination of the pregnancy should be offered before viability. The surgical intervention consists of corrective or palliative cardiovascular surgery, correction of ventral hernia and diaphragmatic defects, and correction of associated anomalies in a single or staged procedure, depending upon the complexity. Zidere and Allan reported an evolving pattern of findings during serial antenatal scans, with a reduction in the degree of protrusion of the heart through the lower sternal defect. The possibility of an improvement could be considered on counseling in early pregnancy [7].

Prognosis

Generally the prognosis is poor especially in patients with severe defects, complete forms of the syndrome and those with associated anomalies.


References

1. Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958 Nov;107(5):602-14. [PubMed]
2. Sabrina D. Craigo, MD, Martin S. Gillieson, MD, Curtis L. Cetrulo, MD. Pentalogy of Cantrel -1992-07-21-17 Pentalogy of Cantrell  © Craigo www.thefetus.net/
3. 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 Nov;50(5):778-92 [PubMed]
4. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008 Jan;167(1):29-35. Epub 2007 Aug 4[PubMed]
5. O'Gorman CS, Tortoriello TA, McMahon CJ. Outcome of children with Pentalogy of Cantrell following cardiac surgery. Pediatr Cardiol. 2009 May;30(4):426-30. doi: 10.1007/s00246-009-9410-9. Epub 2009 Mar 26[PubMed]
7. Zidere V, Allan LD. Changing findings in pentalogy of Cantrell in fetal life. Ultrasound Obstet Gynecol. 2008 Nov;32(6):835-7. doi: 10.1002/uog.6223. [PubMed]
8. Chen CP. Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. Taiwan J Obstet Gynecol. 2007;46(2):103–10. [PubMed]
9. 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(6):839–41. [PubMed]
10. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet. 1992;42(1):90–5. [PubMed]
11. Amir Hossein Jafarian,a,* Abbas Ali Omidi,a Alireza Fazel,b Hamed Sadeghian,a and Bahareh Joushanc Pentalogy of Cantrell: a case report      J Res Med Sci. 2011 January; 16(1): 105–109[PubMed]
12. Carmi R, Barbash A, Mares AJ.The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder.Am J Med Genet. 1990 May;36(1):109-14. PubMed]
13. Ghidini A, Sirtori M, Romero R, Hobbins JC. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med. 1988;7(10):567–72. [PubMed].


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