What is Pentalogy of Cantrell?

Pentalogy of Cantrell is a rare disorder that is present at birth. It is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall and the heart. 

Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete Pentalogy of Cantrell. When all five defects are present, this is referred to as complete Pentalogy of Cantrell. The exact cause and prevalance is unknown however it is estimated to occur in 5.5  for every 1 million live births.

Management of the condition is surgical including palliative and corrective repair of the affected areas. Surgical repair to relocate the heart into the chest cavity is high risk. The prognosis is poor and only few survive through early childhood. The main causes of death are tachyarrhythmias, bradycardia, low blood pressure, rupture of the diverticulum, and heart failure. 

Pentalogy of Cantrell is a very rare congenital (present at birth) disorder. Children born with pentalogy of Cantrell may have multiple birth defects, including problems with the heart, abdominal wall, breastbone (sternum), diaphragm (muscle used for breathing) and the pericardium (lining of the heart).  It doesn't always affect all these areas and may be detected prenatally (before birth).