Cantrell Syndrome Symptoms, Causes, Diagnosis and Treatment

Cantrell syndrome is extremely rare birth defect which affects heart, abdominal wall, diaphragm, sternum and pericardium. Hence the condition is also known by other name such as Pentalogy of Cantrell. This syndrome was first described in 1958 by Cantrell, Ravitch and Haller. Estimated incidence of Cantrell syndrome is 1 in 1 million live births. The etiology of this condition is not clearly established. It is sporadic in occurrence. Researchers believe failure or abnormality in development of certain embryonic tissue (lateral mesoderm) during the early days (14-18) of conception is the cause.

Defects in various mentioned parts can be moderate or severe. All infants born with Cantrell syndrome may not be having defects in all the five parts. In such case the condition is referred as incomplete Cantrell syndrome. Cantrell syndrome has high mortality rate. If the infant survives he may need multiple complex corrective surgeries.

What Causes Cantrell Syndrome?

As mentioned earlier the exact cause of Cantrell syndrome is not yet determined. It is believed to occur due to sporadic genetic mutation.

Some researchers also believe abnormal development of mesoderm during the 14th to 18th day of embryonic life may be the cause. Normally the sternum, abdominal wall, pericardium, and a part of diaphragm and myocardium originate from mesoderm tissue in the embryo. Any type of developmental error during this period is suspected for this anomaly. This condition can develop in both genders with relatively male dominance. Cases of other defects such as Trisomy 13 and 18, turner syndrome are often associated with Cantrell syndrome. Trisomy 13 and 18 are chromosomal abnormalities.

Symptoms of Cantrell Syndrome:

The symptoms of Cantrell syndrome may vary from mild to moderate defects. There are five characteristic symptoms of findings in Cantrell syndrome. They are as follows:

  • Abdominal wall defect: The defect usually occurs in the midline of the abdomen. This includes omphalocele, diastsis recti, epigastric hernia, and umbilical hernia. In majority of cases omphalocele is the abdominal wall defect. In omphalocele a part of intestine or other abdominal organ protrudes through the umbilicus.
  • Sternal (breastbone) malformation: Malformation of sternum include bifid sternum, absence of lower end of sternum, short breastbone.
  • Diaphragm: A dome shaped organ which divides abdomen from chest. A hole in the diaphragm. This may cause content of abdomen to enter into chest.
  • Heart defects: Vast majority of patients with Cantrell syndrome have defect inside the heart. It can be ventricular septal defect, atrial septal defect, or in simple words a whole is heart. Ectopia cordis is a serious and major defect where the heart is situated in the abdominal wall. It is completely outside of the thoracic cavity.
  • Diaphragmatic pericardium: There may be defect in the diaphragmatic pericardium which may lead to difficulty in breathing.

All the above abnormalities can cause severe interruption in lung function, breathing, blood circulation. There is increased risk of infection in the abdomen.

Diagnosis and Treatment Options:

Diagnosis of Cantrell syndrome is usually made before the birth when the fetus is still in the womb. Fetal ultrasound can detect the birth anomaly. After birth, majority cases may be having ectopia cordis (heart in the middle of the abdominal wall). This will confirm the condition. Further electrocardiogram, may be done to know the function of heart. MRI may help to detect the severity of certain defects such as abdominal wall and pericardium defect.

Treatment of Cantrell syndrome completely depends on the symptoms and defects that the child may be having after birth. Patients with Cantrell syndrome require surgical correction of various organ defects. Certain surgeries are performed soon after birth of the child. A child without surgery may not be able to live because of several complications that may arise from the anomalies. These surgeries are complex surgeries which may require team of doctors from multiple disciplines. In most cases omphalocele is first to be surgically corrected after which other defects may be taken from time to time or at one go.

Cantrell syndrome has high mortality rate and even after several corrective surgeries the prognosis may be guarded. The prognosis is even poorer in case if there is associated ectopia cordis.