What Is Pentalogy of Cantrell? 8-Year-Old Russian Girl Has Rare Congenital Condition

Pentalogy of Cantrell (POC) is a congenital rare disorder characterized by several birth defects in the chest and abdominal area. These defects usually involve the breastbone (sternum), diaphragm — the muscle that separates the chest cavity from the abdomen and aids in breathing, pericardium — the thin membrane that lines the heart, the abdominal wall, and the heart.

According to the National Organization for Rare Disorders (NORD), the term ‘penta’ in the disorder’s name comes from the Greek word for ‘five’ as this disorder may include up to five defects. However, most infants born with the disorder do not have all the five defects. This extremely rare disorder occurs in an estimated 5.5 people per one million live births.

POC occurs with varying degrees of severity, causing severe, life-threatening complications. If all the five defects are not present in an infant, it may be referred to as incomplete POC. The variability of the disorder from one individual to another can be significant. The root cause of POC is unidentified. Most cases are believed to occur sporadically.

The specific symptoms of POC vary from individual to individual. Some infants may have mild defects while others may have serious, life-threatening complications.

The most severe case of POC is when the heart is completely or partially displaced outside of the thoracic cavity and is not protected by the chest wall. This conditions is called Ectopia Cordis which is often, but not always associated with POC.

Another severe condition is called omphalocele. This is an abdominal wall defect in which part of an infant’s intestines and abdominal organs stick out through the belly button. The intestines and other organs are covered by a thin membrane. The condition may be small or large.

There can be a wide variety of congenital heart defects including a hole in the heart between the two lower chambers (ventricles) of the heart or between the two upper chambers (atria) of the heart. There can also be an abnormal location of the heart on the right side of the chest instead of the left (dextrocardia), and tetralogy of Fallot, a condition in which four anatomical defects of the heart occur together.

The diagnosis of POC can often be made by an ultrasound of the fetus prenatally where the specific birth defects associated with this condition can be seen. Once a child is born, the classic features of this condition like ectopia cordis will be a revealing sign that the child is suffering from POC.

The basis of treatment for POC is purely symptomatic and supportive. Surgery may be required to correct various deformities. A hole in the heart or a hole in the diaphragm will definitely require surgery to correct the deformity. However, infants born with this disorder do not have a long life. According to a review study in 2008, it was found that out of 58 infants with the disorder, 37 (64 percent) died within few days of birth. In most cases, the condition is incurable without surgery.

An eight-year-old girl from Russia with a rare congenital condition that caused her heart to be outside her chest is currently in the United States to seek treatment. Virsaviya Borun suffers from Pentalogy of Cantrell, which affects five in a million people. Her heart is protected by only a thin layer of skin, while she is also missing part of her chest bones, a diaphragm and abdominal muscles.

As reported by the Metro, speaking to the BBC earlier this year, Virsaviya’s mother Dari Borun said, “It’s not easy for Virsaviya to live with her heart on the outside because it’s really fragile. She has to be careful as of course she can fall and it can be really dangerous – she can die from that.”