Cantrell’s Pentalogy - A Rare Congenital Condition With Complex Implications

Introduction:

Cantrell’s pentalogy is a rare disorder characterized by a combination of five birth defects. The congenital malformations involve the heart, pericardium (the membrane that surrounds the heart), diaphragm (a muscle that divides the abdominal and chest cavities, assisting in the process of respiration), sternum (breastbone), and ventral abdominal wall. Cantrell’s pentalogy occurs with varying degrees of severity and causes life-threatening complications. The exact cause of Cantrell's pentalogy is not known. Cantrell’s pentalogy affects both males and females. The survival rate of patients with Cantrell's pentalogy is approximately 37 %.

What Is Cantrell’s Pentalogy?

Cantrell’s pentalogy, also known as Cantrell deformity or Cantrell syndrome, is a disorder present at birth (congenital). It is characterized by a combination of five birth deformities. These defects can involve the sternum, diaphragm, pericardium, abdominal wall, and the heart. The five defects are described as:

1. Lower sternal cleft.

2. Supraumbilical omphalocele.

3. Defect in pericardium.

4. Intracardiac anomaly.

5. An abnormality in the central tendon of the diaphragm.

Cantrell’s pentalogy is often referred to as a developmental field defect because of the involvement of multiple tissues from the cardiac to the abdominal wall.

What Are the Types of Cantrell’s Pentalogy?

1. Complete Cantrell’s Pentalogy - It refers to the presence of all five birth defects.

2. Partial Cantrell’s Pentalogy - It occurs when the infant does not develop all five birth defects.

What Are the Signs and Symptoms of Cantrell’s Pentalogy?

• Sternal Defects:

• Complete absence of the sternum.

• Complete absence of xiphoid (a small cartilaginous process of the lower part of the sternum).

• The sternum may have a cleft, or it can be shorter than normal.

• Abdominal Wall Defects:

• Ectopia cordis (a birth defect where the heart is completely or partially displaced from the chest region uncovered by the abdominal wall).

• Omphalocele (abdominal contents covered by a thin membrane protruding through the abdominal wall).

• Abdominal diastasis (wide separation of the muscles of the abdomen).

• Gastroschisis (abdominal contents protruding through the abdominal wall without any covering).

• Cardiac Defects:

• Atrial septal defects refer to the presence of a hole in the partition between the upper two chambers of the heart, known as the atria.

• Ventricular septal defects denote the existence of a hole in the barrier between the lower two chambers of the heart, specifically the ventricles.

• Left ventricular diverticulum (a pouch branching out from the ventricle).

• Dextrocardia refers to the condition where the heart is positioned on the right side of the chest instead of the usual left side.

• Pulmonary stenosis is a condition characterized by the constriction of the pulmonary valve, which regulates the blood flow from the right ventricle of the heart into the pulmonary artery.

• Tetralogy of Fallot refers to a cluster of four congenital heart defects that typically manifest collectively.

• Dyspnea (shortness of breath).

• Cyanosis is a condition characterized by a bluish tint observed in the skin and mucous membranes.

• Cardiac murmur (an extra sound of swishing or whooshing in a heartbeat).

• Pericardial Defects:

• Pericardial effusion (excess fluid in the space around the heart).

• Muffled heart sound on cardiac auscultation.

• Diaphragmatic Defects:

• Diaphragmatic hernia (a hole in the diaphragm) through which the abdominal contents protrude in the thoracic cavity.

• Bowel sounds were heard during the auscultation of the chest.

What Is the Cause of Cantrell’s Pentalogy?

The exact cause of Cantrell's pentalogy is not known. Most cases occur for no apparent reason (sporadic). Some researchers suggest that the symptoms of Cantrell's pentalogy occur as a result of an abnormality in the development of the midline embryonic tissue fourteen to eighteen days after conception. Some other research shows that genetic factors may play a role in the development of the disorder, as many familial cases have been reported. More research is required to know the exact underlying cause of the disorder.

How to Diagnose Cantrell’s Pentalogy?

• Fetal Ultrasound - It is a diagnostic procedure that employs high-frequency sound waves to generate an image of the unborn baby (fetus). Cantrell’s pentalogy can be diagnosed at a first-trimester ultrasound. Fetal ultrasound has the capability to identify certain defects linked to this condition.

• Chest X-ray - It is done after the birth of the baby. It can show diaphragmatic hernia and dextrocardia. It utilizes a low dosage of ionizing radiation to generate visual representations of the internal structures within the chest.

• Echocardiography - It is a diagnostic procedure that utilizes sound waves to create visual representations of the heart. It is performed to assess the extent of the involvement of the heart.

• Cardiac MRI (Magnetic Resonance Imaging) and CT (Computed Tomography) Scans - This is included in the postnatal evaluation. Both scans are done to evaluate the extent of the defect and have a treatment plan for further surgical correction. MRI scan uses radio waves and magnets to create images of the heart. CT scan uses X-rays to create detailed images of the heart and its blood vessels.

What Are the Treatment Options for Cantrell’s Pentalogy?

• The treatment plan for Cantrell's pentalogy depends on the presence of the defects and their extent. The treatment is directed toward the specific signs and symptoms that appear in each person.

• Surgical intervention for diaphragmatic, cardiac, and other defects is important and involves covering the defects. In most cases, this disorder can be fatal without surgical management.

• Initial conservative management often includes daily dressing changes and prophylactic antibiotics. Despite this, mortality and morbidity remain high in severe cases.

• The specific treatment plan may differ from one infant to another depending on various factors such as the type and the size of the abdominal wall defect, the cardiac anomalies that are present, and the type of ectopia cordis. Surgical procedures involving the repair of omphalocele might be necessary shortly after birth. During these procedures, doctors may also try to repair certain other defects, such as defects of the diaphragm, sternum, and pericardium.

• In severe cases, staged repair of the defects is suggested. The first surgery after the birth involves the separation of the pericardial and peritoneal cavities, repair of the omphalocele, and coverage of the midline defect. After appropriate growth of the lungs and thoracic cavity, the second stage involves the return of the heart to the chest and the repair of the cardiac defects. Eventually, reconstruction of the lower sternum may be done, usually by age two or three.

• Other treatment procedures for Cantrell's pentalogy are supportive and symptomatic.

Conclusion:

Cantrell’s pentalogy constitutes a variety of congenital malformations and exhibits different signs and symptoms. While the precise cause remains unidentified, prenatal diagnosis of this condition is frequently achievable. Some doctors suggest an early intervention, while some suggest a staged procedure for managing the condition. Parents should always be counseled about the overall survival and prognosis of Cantrell's pentalogy.