What is Pentalogy of Cantrell?
Pentalogy of Cantrell is an extremely rare pathological condition present at birth which is characterized by certain birth defects which usually involve the sternum or the breast bone and the diaphragm.
These defects caused due to Pentalogy of Cantrell can range from moderate to severe to such an extent that it may cause potentially life threatening complications.
Not every infant born with this condition will have all of the symptoms and in such cases the condition is called as incomplete Pentalogy of Cantrell. The root cause of Pentalogy of Cantrell is not yet known and majority of the cases occur due to sporadic gene mutation resulting in Pentalogy of Cantrell.
What are the Causes of Pentalogy of Cantrell?
As stated, the root cause of Pentalogy of Cantrell is not yet known. It is believed to occur out of spontaneous mutation of certain genes. According to some researchers, Pentalogy of Cantrell tends to occur as a result of abnormality in the development of midline embryonic tissue which takes place about two weeks after conception.
In some cases, multiple members of the same family have been noted to have Pentalogy of Cantrell which makes researchers think of a familial link to this disorder.
Genetics may also play a role in the development of Pentalogy of Cantrell according to some studies. More research is still underway in order to find the root cause of Pentalogy of Cantrell.
What are the Symptoms of Pentalogy of Cantrell?
The symptoms of Pentalogy of Cantrell are quite variable and differ significantly from individual to individual. While some infants may have mild abnormalities other children may have severe birth defects which may result in life threatening complications.
The severest form of Pentalogy of Cantrell includes a birth defect called as ectopia cordis and omphalocele. Ectopia cordis is a severe condition in which the heart is completely or partially displaced out of the chest wall and thus remains unprotected which may result in severe cardiovascular complications.
Omphalocele is a condition in which the intestines of the infant and other organs belonging to the abdominal area stick out of the belly button. These two are classic presenting feature of Pentalogy of Cantrell.
Additionally, infants with Pentalogy of Cantrell may have abnormality in the diaphragm with a hole in it which tends to allow the contents of the abdomen to move into the chest area. Infants with Pentalogy of Cantrell also tend to have a hole in the heart.
How is Pentalogy of Cantrell Diagnosed?
The diagnosis of Pentalogy of Cantrell 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 telltale sign that the child is suffering from Pentalogy of Cantrell.
An EKG may be done to check whether the heart is functioning normally. Advanced imaging in the form of MRI or CT scan may also be done to look at the defects in the abdominal areas and to check whether any of the contents of the abdominal area are being pushed into the chest due to a hole in the diaphragm. All these tests will confirmatively give a diagnosis of Pentalogy of Cantrell.
How is Pentalogy of Cantrell Treated?
The mainstay of treatment for Pentalogy of Cantrell is purely symptomatic and supportive. Surgery may be required to correct various deformities that present with Pentalogy of Cantrell. A hole in the heart or a hole in the diaphragm will definitely require surgery to correct the deformity.
In majority of the cases, a child without any surgical intervention may not be able to survive the complications that arise out of Pentalogy of Cantrell. In some cases despite surgical intervention and other forms of treatment the child is not able to survive and ultimately succumbs to Pentalogy of Cantrell.
The treatment strategy formulated by the provider will depend on the size of the defect and the specific abnormalities that are present based on which the surgical intervention will be planned to treat the birth defects caused by Pentalogy of Cantrell.
In some cases, the repair may not be done at one go but may require staged reconstruction which tends to make the surgery more complicated. The initial surgery will involve closure of the defects that are initially seen with Pentalogy of Cantrell like omphalocele with the organs of the abdominal area protruding out of the belly button.
Once the child grows, the second stage of surgery is done to correct the cardiac defects with returning the heart to the chest wall thereby protecting it from any complications as a result of Pentalogy of Cantrell. By the age of 3, epigastric and sternal reconstruction may be done to complete the reconstruction of the defects caused by Pentalogy of Cantrell.