Definition

What is Pentalogy of Cantrell?

Pentalogy of Cantrell is a condition characterized by a combination of midline birth defects that 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 can have varying degrees of severity, and can be lethal. Most affected infants do not have all potential defects (incomplete pentalogy of Cantrell).

How common is Pentalogy of Cantrell?

Pentalogy of Cantrell affects males and females in equal numbers. The exact prevalence is unknown, but estimated to be 5.5 in 1 million live births. Please discuss with your doctor for further information.

Symptoms

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. These two are classic presenting feature of Pentalogy of Cantrell.

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.

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.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Pentalogy of Cantrell?

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.

Risk factors

What increases my risk for Pentalogy of Cantrell?

A genetic component has been considered due to a few reports of familial cases. It has been reported in male siblings (suggesting X-linked recessive inheritance) as well as in a mother and 2 daughters (suggesting some type of dominant inheritance).

Pentalogy of Cantrell has also been reported in association with the chromosome abnormalities trisomy 18, trisomy 13, and Turner syndrome, which usually occur by chance. There have also been reports of people with both pentalogy of Cantrell and Goltz–Gorlin syndrome (also called focal dermal hypoplasia), which is inherited in an X-linked dominant manner.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

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.

How is Pentalogy of Cantrell treated?

The treatment of pentalogy of Cantrell is directed toward the specific symptoms that are apparent in each individual.

Surgical intervention for cardiac, diaphragmatic and other associated defects is necessary. Affected infants will require complex medical care and may require surgical intervention. In most cases, pentalogy of Cantrell is fatal without surgical intervention. However, in some cases, the defects are so severe that the individual dies regardless of the medical or surgical interventions received.

The specific treatment strategy will vary from one infant to another based upon various factors, including the size and type of abdominal wall defect, the specific cardiac anomalies that are present, and the particular type of ectopia cordis. Surgical procedures that may be required shortly after birth include repair of an omphalocele. At this time, physicians may also attempt to repair certain other defects including defects of the sternum, diaphragm and the pericardium.

In severe cases, some physicians advocate for a staged repair of the defects associated with pentalogy of Cantrell. The initial operation immediately after birth provides separation of the peritoneal and pericardial cavities, coverage of the midline defect and repair of the omphalocele. After appropriate growth of the thoracic cavity and lungs, the second stage consists of the repair of cardiac defects and return of the heart to the chest. Eventually, usually by age 2 or 3, reconstruction of the lower sternum or epigastrium may be necessary.

Other treatment of pentalogy of Cantrell is symptomatic and supportive.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Pentalogy of Cantrell?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 5, 2018 | Last Modified: February 5, 2018

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