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Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome
Feico J J Halbertsma1, Anton van Oort, Frans van der Staak
1Department of Paediatrics, University Medical Centre St Radboud, Nijmegen, The Netherlands.
Insights
Pentalogy of Cantrell, a rare syndrome, involves midline defects like omphalocele and ectopia cordis. A neonate case highlights the importance of investigating cardiac malformations with omphalocele.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Cardiology
Background:
- Omphaloceles and left ventricular diverticulums are rare congenital anomalies.
- Their co-occurrence suggests Pentalogy of Cantrell, a complex midline defect syndrome.
- Pentalogy of Cantrell includes ectopia cordis and other midline malformations.
Observation:
- A neonate presented with both an omphalocele and a left ventricular diverticulum.
- The patient also exhibited an atrial septal defect, a ventricular septal defect, and anomalous pulmonary venous return.
- Omphaloceles, particularly supraumbilical ones, warrant investigation for Cantrell's pentalogy spectrum.
Findings:
- The combination of omphalocele and left ventricular diverticulum strongly indicates Pentalogy of Cantrell.
- Left ventricular diverticulum is frequently associated with other intracardiac anomalies.
- This case underscores the need for thorough cardiac evaluation in neonates with omphaloceles.
Implications:
- Early surgical intervention is crucial for managing Pentalogy of Cantrell.
- Potential complications include spontaneous rupture, arrhythmias, and thrombus formation in the ventricular diverticulum.
- Identifying this syndrome early allows for timely management of associated cardiac and abdominal wall defects.
Abstract:
Omphaloceles and left ventricular diverticulums are rare disorders. Although either is known to occur on its own, the combination is highly suggestive of the so-called pentalogy of Cantrell. This syndrome is a combination of deformities involving midline structures, with exteriorisation of the heart, or 'ectopia cordis', as the most severe malformation. A cause has yet to be identified, though genes located on the X-chromosome may be involved. We discuss a neonate who presented with an omphalocele and a palpable diverticulum of the left ventricle. An omphalocele, especially when above the umbilicus, is an indication for further investigation for deformities as seen in the spectrum of Cantrell's pentalogy, especially cardiac malformations and anterior diaphragmatic herniation. A left ventricular diverticulum is usually associated with Cantrell's syndrome. When found, it is usually accompanied by other intracardiac malformations, so that again further examination is indicated. In our patient, there was an atrial septal defect within the oval fossa, along with a ventricular septal defect and unobstructed albeit anomalous venous pulmonary return to the left atrium. Early surgical intervention seems to be indicated, as spontaneous rupture, arrhythmias, and thromobogenicity of the ventricular diverticulum have all been reported.