Ectopia Cordis

Another rare disease we are about to discuss, surely no longer belong to psychology and dermatology yet it is all about cardiology.

Try guess, what kind of disease based on the hints given.

First, the case is reported around 8 in 1 million births. Second, this disease has five types. And the last hint is the babies are either stillborn or die within the first 3 days of life.

So, do you have any idea about the disease?

By the way, the hints given are bit awful since the disease s related to the babies. Unfortunate babies will die. Just like Harlequin Ichthyosis, the disease that relate to the babies since born, and lead them to death. 

Back to the track, what is the answer?

Allow me to reveal the answer.

The answer is Ectopia Cordis. 

This is how Ectopia Cordis looks alike

We all informed that, the heart is located in the center of the chest cavity where it resides in the space between the lungs (inferior mediastinum) and lies on the diaphragm with its more pointed apex directed to the left side. 

Taken from http://integrationmassage.com/wp-content/uploads/2012/09/location-of-lungs-Heart-in-ThoracicCavity.png

But, not for Ectopia Cordis.

What is Ectopia Cordis?

According to Kanagasuntheram, R (as cited in Willius, 1948), the disease was discovered by Neil Stensen in 1671 when his article was translated and written as “…the sternum was split and the heart, liver and spleen, most of the intestine and right kidney have passed out through the split being thus uncovered.” However, some of researchers believe that the first one discover the disease is not Neil Stensen but Haller in 1706 and from that moment, over 180 cases have been described (Kanagasuntheram, R & Verzin, J, A, 1961). So, basically, Ectopia Cordis is best defined as complete or partial displacement of the heart outside the thoracic cavity.

For your information, the name given is an idea from Greek word, ektopos which is means away from a place (Madhavi, D & Rajasree, T.K., 2011) and Ectopia Cordis is a Latin word, which is means “outside” and “heart” (All Health Site, 2009). The disease was named perfectly, suitable with the appearance of the disease.

In 1997, the disease has been classified into 5 types which is consider the position of the heart (Dasari, M & Rajasree, T, K, 2012 as cited in Annal of Plastic Surgery, 1997). They are:-

•        Thoracic Ectopia Cordis
•          Abdominal Ectopia Cordis
•          Thoraco-abdominal Ectopia Cordis
•          Cervical Ectopia Cordis
•          Cervicothoracic Ectopia Cordis

However, thoracic type is a common case and it was 65% cases reported while cervical type is the rarest in which only 5% cases reported.

Before we go deeper, have you ever wonder, what the cause of this disease?

There are several theories how ectopia cordis may happen. One of them is the failure of lateral body walls to initiate fusion during 9^TH week of life. So, what is the exact function of lateral body walls? Basically, lateral body walls responsible for the proper union or connection of the ventral or anterior walls (All Health Site, 2013).

Parents who want to make sure the baby is affected or not, actually it is not hard to detect if the baby have ectopia cordis or not. Parents may do medical check-up using ultrasound at any medical centre to check if the baby is in good condition or not. Unlike Harlequin Ichthyosis, the heart can be seen obviously at the outside of the chest, in the neck or in the abdomen.

Taken from http://sonoworld.com/images/FetusItemImages/images2007/Cardiac/Pentalog_Cantrel_Sanchez201207/1.jpg

For your information, the heart is actually underdeveloped and the ectopic heart is totally not protected by the skin or sternum. Thus, many other heart defects are associated with this condition. That is why most babies that are born alive will die after their first few days. Only several lucky babies will survive.

Now, let's focus on the treatments.

The parents have only two choices. Either to continue or abort the pregnancy. However, All Health Site, (2013) mentioned that most parents always consider terminating the pregnancy. But, some of them still want to continue the pregnancy. Thus, non-aggressive during deliver is recommended due to the disease.

Don’t worry. Even though the treatment for baby is limited, there are still successful surgical recorded. The surgical is of course to repair the intracardiac defect and to reconstruct the chest wall. If the baby survives in surgery, then the baby may be viable for orthotopic heart transplantation. However, parents should realize that the mortality rate is still very high since the surgery only available for an infant that is thriving at birth.

Audrina Cardenes, ectopia cordis patient at Texas Children's Hospital

As for support, both mother and father have to be strong facing any kind disease that the children had. In this case of disease, the parents need to be wise in making decision. If the parents decided to continue the baby, believe that there is still hope that the baby will safe. If the result is not as expected, at least we try to save the baby.

Now, we are surrounded by technology. Aren’t that was a good news? Based on Kabbani et al. (2002), with the advances in all aspects of medicine, the number of infants who undergo successful surgical repair and survive is steadily increasing. 

So, don’t worry. Believe me, every problem sure has the key to solve it!