Why is there a baby who is born with the heart beating outside the body?

Have you ever imagined if your heart beats outside your chest? Of course it will sound scary. The reason is, you can feel the heartbeat when you press the chest. Well, there is one disorder that makes the heart beat outside the body so that it can be seen clearly how the heart is actually beating. This disorder is called Pentalogy of Cantrell . So, how did it happen?

Get to know pentalogy of Cantrell , when the heart beats outside the chest frame

Pentalogy of Cantrell is a very rare and complex disease. Under normal conditions, the heart lies behind the chest cavity which is protected by the ribs. However, this disorder causes the patient's heart to be right under the skin, either the whole heart or only partially outside the chest frame.

The term 'penta' from Greek which means 'five' indicates that this disorder includes five combinations of birth defects, which can involve the sternum (sternum), diaphragm, the thin membrane that lines the heart (pericardium), abdominal wall, and the heart itself. However, most babies with this disorder do not always have these five defects, called pentalogy of Cantrell incomplete.

According to the National Organization of Rare Disorders (NORD), this disease affects only about five babies per one million live births. Unfortunately, babies born with this condition often don't last long. A 2008 study found that of 58 babies with pentalogy of Cantrell , 64 percent or 34 babies died within days of birth. In most cases, the condition is fatal without surgery that can correct the birth defect.

Signs and symptoms pentalogy of Cantrell

Specific symptoms and severity pentalogy of Cantrell can vary from person to person. Some babies may have mild defects with incomplete types of abnormalities. However, the most severe sign and form of this disorder is when the baby has ectopia cordis and omphalocele.

Ectopia cordis is a severe condition in which the whole or part of the heart is outside the chest cavity. While omphalocele is an abdominal wall disorder that causes parts of the baby's intestines and other abdominal organs to protrude through the belly button. In fact, the intestines and organs in the normal stomach should be covered by a thin membrane of the stomach (peritoneum).

In addition to experiencing heart defects beating outside the chest frame, sufferers pentalogy of Cantrell also have the potential to experience several other disorders, such as underdevelopment of lung function, difficulty breathing, embolism, and impaired heart function. Besides, babies with pentalogy of Cantrell risk of developing a wider internal infection of the abdominal cavity.

Cause pentalogy of Cantrell

The cause of this abnormal heart beat outside the body is not certain. However, a theory suggests that this abnormality can occur due to problems with the development of the embryonic tissue in early pregnancy, which is about 14 to 18 days after conception. Meanwhile, some researchers report that genetic disorders play a role in the development of these disorders, although further research is needed.

How to diagnose pentalogy of Cantrell ?

Diagnosis pentalogy of Cantrell can be known since the first trimester through ultrasound examination. Diagnosis of intrauterine pentalogy is not possible before the 12th week of pregnancy, because intestinal herniation of the stomach is a normal occurrence in fetal development. Meanwhile, the common fetal abdominal wall abnormalities after week 12 are omphalocele, pentalogy of Cantrell , and gastroschisis.

Echocardiography examination is usually also performed to evaluate the condition of the fetal heart by using sound waves that produce images of the heart. In addition, the use of MRI is also necessary (magnetic resonance imaging) to assess the degree of certain abnormalities in the abdominal wall and pericardial damage.

Can this disorder be treated?

Treatment pentalogy of Cantrell performed depending on the specific symptoms seen in each patient, including the size and type of abnormalities in the abdominal wall, heart anomalies, and certain types of ectopia. Common treatment is surgical intervention on the heart, diaphragm, and other abnormalities in the patient's body.

The surgical procedure that needs to be done immediately after birth is the repair of the omphalocele. In severe cases, some doctors recommend initial surgery immediately after birth to separate the peritoneal (abdominal cavity) and pericardial (heart) cavities. After that, the second stage of surgery was attempted to restore the position of the heart to the chest cavity.