A ‘One in a million’ case of pulsating thoracoabdominal mass

Abstract

SummaryEctopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. The authors present a case of a male baby born at term by emergency caesarean section due to prolonged fetal bradycardia, who was noted to have a large pulsating mass in the thoracoabdominal area. In view of lower thoracolumbar abdominal defect, ectopic placement of the umbilicus, deficiency of the diaphragmatic pericardium, deficiency of anterior diaphragm and intracardiac abnormalities, a diagnosis of ectopia cordis-Pentalogy of Cantrell was made. He was transferred to a tertiary centre and required oxygen supplement initially. He was sent home after 1 week, on propanolol, with weekly oxygen saturation checks. He is awaiting further surgical intervention pending the required weight gain. BACKGROUND

A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis

“…Thoracoabdominal ectopia cordis may be a part of middle line defects defined as Cantrell's pentology (4,10). In Cantell's pentology, other congenital heart disorders are present in association with abdominal wall, sternum, diaphragm and pericardium disorders (1,9). While cases with all of these five findings are defined as definite Cantrell's pentology, cases with four of these five findings are defined as possible Cantrell's pentology (1,10).…”

“…In Cantell's pentology, other congenital heart disorders are present in association with abdominal wall, sternum, diaphragm and pericardium disorders (1,9). While cases with all of these five findings are defined as definite Cantrell's pentology, cases with four of these five findings are defined as possible Cantrell's pentology (1,10). In our patient, the heart was localized in the thoracoabdominal region and Ectopia cordis is frequently accompanied by congenital heart disorders including ventricular septal defect, atrial septal defect, pulmonary stenosis, fallot tetralogy, right ventricular diverticle, double outlet right ventricle and more rarely with single ventricle, transposition of the great arteries and atrioventricular septal defect (1,7,9,11).…”

“…While cases with all of these five findings are defined as definite Cantrell's pentology, cases with four of these five findings are defined as possible Cantrell's pentology (1,10). In our patient, the heart was localized in the thoracoabdominal region and Ectopia cordis is frequently accompanied by congenital heart disorders including ventricular septal defect, atrial septal defect, pulmonary stenosis, fallot tetralogy, right ventricular diverticle, double outlet right ventricle and more rarely with single ventricle, transposition of the great arteries and atrioventricular septal defect (1,7,9,11). In addition, extracardiac disorders including omphalocele, gastrochisis, scoliosis, cleft lip-palate and central nervous system disorders may also be observed in association with ectopia cordis (4,9).…”

“…In our patient, there was no disorder related with the other systems and organs except for developmental disorder of the upper abdominal wall. The chance of survival in patients with ectopia cordis depends on the accompanying congenital disorders and most of the patients with severe congenital heart disorders are lost in the early period (1,11). Ventricular septal defect, pulmonary atresia, single atrium and hypoplastic right ventricle were found in our patient and she was lost in a short time after delivery.…”

“…Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity (1)(2)(3)(4)(5). It occurs with a prevalence of 5.5-7.9 in one million live births (1.4-6).…”