Cantrell's Pentalogy: the heart beats outside the body

By Cristiano Antonino On Sep 9, 2022

Cantrell’s Pentalogy is an often fatal congenital malformation disorder that involves several birth defects in the chest and abdominal area, with the result that the heart may be found just under a person’s skin instead of behind the layers of bone, tissue and muscle

The term ‘penta’ in the name of the condition is derived from the Greek word ‘five’, indicating the five defects that the disorder can include.

However, most children with the condition do not have all 5 defects.

Cantrell’s Pentalogy can include defects

of the diaphragm (the muscle that separates the thoracic cavity from the abdomen and is involved in breathing);
of the sternum;
of the pericardium (the membrane that surrounds the heart);
of the abdominal wall;
of the heart.

In the most severe form, people with Cantrell’s pentalogy may be born with the heart completely or partially displaced outside the thoracic cavity (ectopia cordis)

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The intestines and abdominal organs may also move partially outside the body through the navel (abdominal hernia).

This condition is very rare and occurs in about 5 out of every 1 million live births.

Affected people who are born with Cantrell’s pentalogy often do not survive very long, in fact, a study conducted in 2008 showed that out of 58 affected babies, 37 (64%) died within days of birth.

In most cases, the condition is fatal unless surgery is performed to repair the defects.

The cause has not yet been identified: although the condition is sporadic in most children, X-linked recessive transmission has been suggested in some families.

In some of these cases, genes located on the X chromosome (Xq25-q26.1) may be involved.

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