Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects. Surgical treatment is possible with internalisation of the heart, repair of associated intracardiac anomalies and repair of the thoraco-abdominal defect. In this article the authors describe the first Maltese case, with a successful outcome.peer-reviewe

Grech, Victor E.

Parascandalo, Raymond

Rees, Philip G.

English

OAR@UM

49 -­Maltese Medical Journal , 1997; 9(2):49 All rights reserved Pentalogy of Cantrell: the first Maltese case with successful outcome Victor Grech*, Raymond Parascandolo*, Philip G. Rees** '" Department of Paediatrics, SI. Luke's Hospital. Gwardamangia, Malta. "'''' Cardiothoracic Unit. Great OmlOnd Street Hospital for Children. London. UK. Correspondence: Dr. V. Grech. Department of Paediatric. SI. Luke's Hospital. Gwardamangia . Malta. Introduction Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958 1• It is comprised of congenital heart disease (CHD), and midline defects. The latter consist of a supra-umbilical abdominal wall defect, a defect of the lower sternum. deficiency of the anterior diaphragm and a defect in the diaphragmatic pericardium, all of which contribute to varying degrees of ectopia cordis . Synonyms for this condition include Cantrell Pentalogy, Carltrell Syndrome, Cantrell-Haller-Ravich Syndrome, Pentalogy Syndrome, Peritoneopericardial Diaphragmatic Hernia. Thoracoabdominal Syndrome (TAS), TAS Midline Defect, and Thoracoabdominal Ectopia Cordis. We report the first Maltese case which successfully underwent a two-stage repair for her CHD and ectopia cordis, and review the literature on this condition. Patient A female infant was born in January 1996 by normal vaginal delivery at full term to healthy and unrelated parents. This was the first product of this marriage and there was no fan~ily history of CHD or other malformations. At delivery, the apex of the heart was noted to be protruding through an epigastric hernia and visibly pulsating, underneath a thin layer of pericardium and skin (partial ectopia cordis). The hernia had two major components. The upper, smaller component contained the cardiac apex, while the lower, larger component contained bowel. The sternum was short (Figure 1). Echocardiography on the same day showed mesocardia (midline heart), a large perimembranous Figure 1: Cantreli's pentalogy. The abdominal ventricular septal defect (VSD), a large atrial septal hernia has two major components: the upper, defect (ASD) and a patent ductus arteriosus. Screening smaller component contains the cardiac apex; the ultrasound examinations of the brain and abdomen were lower, larger component contains bowel. normal. Initial treatment in Malta included diuretics for heart failure, and the ex omphalos was covered with dry carried out two weeks after cardiac surgery. A 2 by 2 cm dressings. defect in the anterior part of the diaphragm was directly At the age of 9 months, weighing 6.6 kg, the patient sutured, and the abdominal wall defect was closed by underwent corrective surgery in the UK whereby a approximating the abdominal musculature. Goretex patch was applied to the VSD and the ASD was Since then, the patient has developed nornlally and directly sutured. The ductus arteriousus had closed remains asymptomatic. Echocardiography shows no spontaneously . The post-operative course was residual cardiac defects, and the abdominal wall repair is uneventful, and abdominal repair of the exomphalos was intact. 50 V. Grech, R. Parascandolo, P.G. Rees Discussion The first cardiac malformation ever described was ectopia cordis. This description dates to 4000 BC in a clay tablet from the Royal Library of Nineveh2. Ectopia cordis was associated with calamities for the entire country. Cantrell's pentalogy is a rare condition occurring in 5.5/million live births3. It is usually sporadic but one family had three consecutively born brothers with extensive diaphragmatic defects. Two of these siblings ...., had the full pentalogy4. Antenatal diagnosis by means of ultrasound scanning is possible5 . The commonest cardiac lesions are ventricular septal defect and tetralogy of Fallot. Few cases have been reported since Cantrell described this condition and only a' small proportion have survived5 . Poor survival is due to the variable and often comp1ex intracardiac malfornlations found in these infants6 , along with other malformations associated with this condition. These include pulmonary hypoplasia6,7, left ventricular diverticulum8, syrenomelia (fusion of lower limbs into one extremity)9, additional central diaphragmatic herniation 10, cleft lip and palate" encephalocele) and fatal syndromes such as Ed ward's syndrome 11. However, in a recent series, a survival rate of 50% among 10 treated patients with Cantrell's pentalogy with significant CHD was reported6, These included patients with absent right or left ventricular chambers in whom surgical repair culminated in a single ventricle physiology, Repair is usually two-stage with separate operations for the thoraco-abdominal defects and cardiac malformation/s6. Single stage repair has also been successfully carried out l2 , but multi-stage intracardiac repair may be necessary for complex CHD6. Conclusion Pentalogy of Cantrell IS a complex, midline developmental anomaly involving various organ systems. Surgical treatment IS possible with internalisation of the heart, repair of associated intracardiac anomalies and repair of the thoraco­abdominal defect. Poor outcome is related to the presence of pulmonary hypoplasia (if any) and the severity of associated CHD, Acknowledgements Work should be attributed to hoth the Department of Paediatrics at St. Luke's Hospital , Malta and the Cardiothoracic Unit, Great Ormond Street Hospital j()r Children, UK. Thanks also goes to Dr. S. Attard-MontallO for the technical pholOgraph. References I. 	 Hailer lA Jr, Cantrell JR. Diagnosis and surgical correction of combined congenital defects of supra­umbilical abdominal wall, lower sternum, and diaphragm. J Thorac Cardiovasc Surg 1966; 51: 286-291. 2. 	 Brodsky I. Congenital abnormalities, tetratology and embryology: Some evidence of primitive man's knowledge as expressed in art and lore in Oceania. Med J Australia 1943; \: 417. 3. 	 Canni R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am 1 Med Genet 1992; 42: 90-95. 4. 	 Martin RA, Cunniff C. Erickson L, Jones KL. Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. Am 1 Med Genet 1992; 42: 839-841 . 5. 	 Ghidini A. Sirtori M, Romero R, Hobbins Je. Prenatal diagnosis of pentalogy of CUltrel1. J Ultrasound' Med 1988; 7: 567-572. 6. 	 Hornberger LK, Colan SO, Lock JE. Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 1996; 94(9 Suppl): 1132-37. 7. 	 Argyle Je. Pulmonary hypoplasia in infants with giant abdominal wall defects . Pediatr Pathol 1989; 9: 43-55 . 8. 	 Fukazawa M, Orita H, Hirooka S. et al. A case of pentalogy of Cantrell with tetralogy of Fallot and left ventricular diverticulum. Kyobu Geka 1995; 48: 759-762. 9. 	 Egan IF. Petrikovsky BM , Vintzileos AM, Rodis JF Canlpbell WM . Combined pentalogy of Cantrell and sirenomelia: a case report with speculation about a common etiology. Am J Perinatol 1993 ; 10: 327-329. 10. 	 Wesselhoeft CW Jr, DeLuca FG. Neonatal septum transversum diaphragrnatic defects . Am 1 Surg 1984; 147: 481-485. 11. 	 Fox lE, Gloster ES, Mirchandani R. Tnsomy 18 with Cantrell pentalogy in a stillborn infant. Am J Med Genet 1988; 31: 391-394. 12. 	 Chen y, Lai HS, Duh Yc' Wang JK. Chiu IS. Pentalogy of Cantrell corrected by one-stage repair. J Forrnos Med Assoc 1996; 95: 555-557. The copyright of this article belongs to the Editorial Board of the Malta Medical Journal. The Malta Medical Journal’s rights in respect of this work are as defined by the Copyright Act (Chapter 415) of the Laws of Malta or as modified by any successive legislation. Users may access this full-text article and can make use of the information contained in accordance with the Copyright Act provided that the author must be properly acknowledged.  Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. This article has been reproduced with the authorization of the editor of the Malta Medical Journal (Ref. No 000001)  

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Pentalogy of Cantrell : the first Maltese case with successful outcome

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Pentalogy of Cantrell : the first Maltese case with successful outcome

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