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Year : 2000  |  Volume : 10  |  Issue : 2  |  Page : 99-101
Case report: Antenatal ultrasound diagnosis of a case of "Pentalogy of cantrell" with common cardiac chambers


Dept of Radiology, B.J Medical College, Ahmedabad, India

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Keywords: Pentalogy, Cantrell, Heart, Antenatal, Ultrasound

How to cite this article:
Shah HR, Patwa P C, Pandya J B, Goswami V, Jain P, Shah BP. Case report: Antenatal ultrasound diagnosis of a case of "Pentalogy of cantrell" with common cardiac chambers. Indian J Radiol Imaging 2000;10:99-101

How to cite this URL:
Shah HR, Patwa P C, Pandya J B, Goswami V, Jain P, Shah BP. Case report: Antenatal ultrasound diagnosis of a case of "Pentalogy of cantrell" with common cardiac chambers. Indian J Radiol Imaging [serial online] 2000 [cited 2019 Jul 24];10:99-101. Available from: http://www.ijri.org/text.asp?2000/10/2/99/30611
We would like to report a case of Pentalogy of Cantrell with a plethora of congenital abnormalities, diagnosed by ultrasound examination. We observed congenital intracardiac abnormalities - a two-chambered heart consisting of a single atrial chamber and a single ventricular chamber with truncus arteriosus arising from the ventricle. Such an abnormality has not been reported so far.


   Case Report Top


A twenty-year-old primi-gravida was referred to us with a history of seven months amenorrhea and undue enlargement of the abdomen. Ultrasound examination revealed polyhydramnios, amniotic band and a single live 24-weeks old fetus with many abnormalities. Through a ventral thoraco-abdominal wall defect a thin sac containing heart, liver, spleen and intestines was seen protruding out in amniotic cavity. The heart was two chambered, with a single atrium and single ventricle and a truncus arteriosus arising from the ventricle. Other abnormalities observed were exencephaly, a short, two-vessel umbilical cord, inserted just below the protruding sac on anterior abdominal wall, an amniotic band attached to the lower border of the umbilical cord, a kyphoscoliotic spine, spina bifida and cystic changes in the kidneys. No congenital malformation of the extremities or face was noted. The placenta appeared normal.

Based on (i) ventral supraumbilical abdominal wall defect (ii) partially deficient anterior diaphragm (iii) ectopia cordis with intra-cardiac malformation, an antenatal sonographic diagnosis of Pentalogy of Cantrell was arrived at.

On medical termination of pregnancy, a live female fetus was delivered, which lived for two hours and 20 minutes. Clinical examination of the aborted fetus confirmed the sonographic findings. The spine was found to be kyphoscoliotic and spina bifida was present; the entire spinal cord from the cervical to the lumbar segments was exposed to the atmosphere, devoid of any meningeal or skin coverings.

Radiographs of the aborted fetus confirmed the spinal abnormality and revealed short, splayed, deformed ribs and absence of the skull vault. Autopsy of the aborted fetus confirmed the sonographic findings and demonstrated a deficient inferior sternum, deficient anterior diaphragm, supra-umbilical ventral thoraco-abdominal wall defect and a sac containing heart, liver, spleen, right lung and intestines protruding through it. Dissection of the heart confirmed it to be two-chambered, having a single atrium, single ventricle and truncus arteriosus arising from the ventricle. Left lung, thymus, stomach, both kidneys and adrenals were found to be within the thoraco-abdominal cavity of the aborted fetus. Abnormal umbilical cord vasculature with only two vessels, one artery and one vein was confirmed. Cysts of different sizes were seen involving the kidneys.]

No chromosomal abnormality was found in the parents' karyotype.


   Discussion Top


Pentalogy of Cantrell is a rare sporadic abnormality. First described by Cantrell in 1958 [2], about 909 cases have so far been reported worldwide [1]. The components of the Pentalogy are i) a midline supra-umbilical anterior abdominal wall defect, ii) a deficit of the lower sternum, iii) a deficiency of the anterior diaphragm, iv) a deficit in the diaphragmatic pericardium and v) congenital intracardiac defects.

A study of embryogenesis reveals that development of the ventral body wall starts on the eighth day of embryonic life. Lateral migration of paired mesoderm occurs, which splits into outer somatic and inner splanchnic layers at about 16 days of embryonic life. Ventromedial foldings of the mesoderm layers give rise to thoracic and abdominal walls, sternum, septum transversum of the diaphragm, pericardium and epimyocardium. Midline fusion and formation of thoracic and abdominal wall is complete by the ninth week. Heart formation is completed by the eighth week. Failure of this process due to any cause results in this Pentalogy of defects.

The causes postulated are:

  1. Vascular dysplasias resulting in vascular steal phenomenon.
  2. Mechanical teratogenesis by amnion rupture, tearing and adhering by the amnion, tissue band adherence causing pressure necrosis and incomplete morphogenesis, mechanical compression secondary to rupture of chorion or yolk sac.
  3. Genetic mutation - idiopathic or due to viral infection in the early first trimester or due to drugs given to the mother.


Associated systemic congenital anomalies reported in the literature are

  1. CVS: Over and above the ectopia cordis and intra-cardiac defects, hypoplastic pulmonary trunk and total anomalous pulmonary venous drainage are known [1],[3],[5],[6]. A single atrial chamber and single ventricular chamber, as seen in our case, have not been reported so far.
  2. CNS: Encephalocele, syringomyelia, exencephaly, spina bifida, hydrocephalus [1], In our study, we observed exencephaly and spina bifida.
  3. GIT: Omphalocele, imperforate anus, anterior diaphragmatic hernia. We observed omphalocele.
  4. GUT: Horse-shoe kidneys, cystic changes in both kidneys. We noted cystic changes in kidneys.
  5. Skeletal system: Deformed anterior rib cage, kyphoscoliotic spine, spina bifida. We noted all these abnormalities.


Other associated abnormalities reported in literature and observed in our patient include:

  1. Single umbilical artery (two-vessel umbilical cord) [1].
  2. Amniotic bands [1]
  3. Polyhydramnios [1]


Our experience was unique in that so many associated abnormalities occurred together and a two-chambered heart was observed for the first time.


   Acknowledgement Top


We are grateful for the co-operation from the Department of Gynecology and Obstetrics for the management of the case and to the Pathology Department for carrying out the autopsy and histopathological examination promptly. We are thankful to the hospital administration for providing assistance as and when required. We appreciate the co-operation of the parents, which made this work possible.

 
   References Top

1.Cullinan JA, Nyberg. Fetal abdominal wall defects, Diagnostic Ultrasound, Carol M. Rumack, IInd Edition, Volume 2, 39: 1167-69.   Back to cited text no. 1    
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: 602-614.   Back to cited text no. 2    
3.Chen SC. Peng HC. Chen HC. Chi CS, Cantrell's Pentology: a case report. Chung Huai Hsueh TSa Chih - Chinese Medical Journal. 1993; 51: 314-7.   Back to cited text no. 3    
4.Van Allen Ml, Myhre S. Ectopia Cordis thoracalis wit craniofacial defects resulting from early amnion rupture. Teratology 1985; 32: 19-24.   Back to cited text no. 4    
5.Bogers AJ. Hazebroek FW. Hess J. Left and Right Ventricular diverticula, ventricular septal defect and ectopia cordis in a patient with Cantrell's syndrome. European Journal of Cardiothoracic Surgery, 1993; 7: 334-5.   Back to cited text no. 5    
6.Tachibana H. Gan K, Oshima Y, Ohashi H, Hosokawa Y, Yamaguchi M. Thoracoabdominal ectyopia cordis with single ventricle and pulmonary stenosis: a case report of successful surgical repair. Nippon Kyobu Geka Gakki Zasshi. Journal of the Japanese Association for Thoracic Surgery 1989; 37: 148-53.  Back to cited text no. 6    

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Correspondence Address:
P C Patwa
87/708, Pushpak Apts, Mirambika Rd, Naranpura, Ahmedabad 380 013
India
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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]

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