Ectopia Cordis: A Fascinating Yet Horrifying Disorder

Introduction

My art project is centered around how the rib cage protects the heart. Ectopia cordis is a genetic disease in the human body characterized by an abnormal or total lack of development of the ribcage and sternum within a fetus, (Yildiz et al, 2021). An inherent part of the disorder is the fact that it can, and very often does branch out to the other structures of the body, such as the integumentary system, abdominal muscles, and the muscular layer in the thoracic region such as the pectoralis major. This causes the appearance of the disorder, the heart and occasionally other internal organs such as the liver-depending on the size and location of the abnormality- will be entirely outside of the torso. Ectopia Cordis is a failure of complete maturation along the midline of the torso wall, (Jyoti et al, 2022). From the nature of this disorder, it is a complicated procedure to repair the abnormality, due to the time intensive nature of the procedure as the surgery has to be completed within a short span of birth or the child will suffer complications leading to death. On average, 90% of the children born with ectopia cordis are stillborn or die from complications from the procedure (Dr. Fraser, 2013).

Project Description:

The art piece I created for my Steam Project to explain ectopia cordis, is composed of a clay rib cage only containing the thoracic region. The reason as to why I chose to use a clay ribcage to help explain ectopia cordis is because ectopia cordis is generally caused by a skeletal defect. So, in my art project, I entirely left out the sternum, leaving everything else. From there I created a ribbon rose to represent the heart and tied it to a string which was just glued to the thoracic vertebrae. While relatively simple, this physical example sufficiently can be used to explain all the types of ectopia cordis as the “heart” can be moved to different locations to describe the four different types of ectopia cordis. I left the sternum outside of the graphic so I could create a prosthetic sternum which could possibly be used in treatment of the disorder. 

Connections:

All movement in the body begins with the musculoskeletal system. The lifting of a cup, to running a marathon, all is made possible simply because of the skeletal structure lying beneath. The muscles connect to bones at insertion and origin points, moveable and immovable bones to allow for flexion and extensions of the muscles which generate the ability to move. Not only this, but the skeletal system also acts as a safety cage to the body’s vital organs such as the brain, heart, and lungs. In the body, there are long bones, short bones, flat bones, and irregular bones. However, as this paper’s primary focus is upon the aforementioned art project, only flat bones and irregular bones will be covered. Irregular bones such as the spinal vertebrae, protect essential parts of the body, like the spinal cord. Flat bones which make up the entirety of the rib cage in the body to protect the lungs and heart through creating a shell like structure. The reason as to why Ectopia Cordis is such a fascinating and dangerous disorder is because the very structure designed to protect the body’s essentials, composed of flat bones, is missing. Leaving the heart and other soft and delicate organs open to the environment or just beneath a layer of skin which increases risk of injury or puncture substantially. 

The rib cage, which is bound by hyaline cartilage to the sternum, aids in respiratory function. In a typical skeletal structure, the ribs, intercostal muscles, and the diaphragm create a vacuum in which the lungs function. The lungs fill with air when the ribs expand and the diaphragm pulls down and flattens, the lungs deplete when the ribs- aided by the intercostal muscles- contract and the diaphragm is pulled up once again. Should the sternum not be present or areas of the ribcage for that matter, the respiratory function of an individual would become increasingly difficult due to the inability to create an adequate vacuum. Diagnosis of Ectopia Cordis takes place in infancy, depending on the severity of this defect, it could be diagnosed in the first trimester of pregnancy or as late as the fourth. If the disorder is caught in the first trimester of pregnancy, the mother will have the ability to choose whether or not to terminate the pregnancy as, unless acted upon immediately, the condition is lethal. 

In Ectopia Cordis, specifically thoracic, and thoracoabdominal, there is a defect of the sternum or rib cage. In cases where the sternum is missing entirely, muscles such as the pectoralis major are unable to find an origin point as the sternum as it is missing. This creates the muscular defect also commonly seen with the disorder where the muscles along the midline of the anterior side of the body don’t develop or meet, allowing the heart and other vitals to remain largely unprotected. The exact cause of the disorder is unknown, however it is theorized to be a possible result of the Bmp-2 gene being malformed or entirely missing in an embryo, (Cox, 2023). There are also other skeletal abnormalities which lead to ectopia cordis, such as a sternal cleft, a V shaped cut out of the sternum. Depending on the severity of the disorder, this could be a minor split in the sternum which is easily repairable; or it could be an entire three to four inches of space between each side. This allows organs resting behind the sternum to peek through. 

The different types of ectopia cordis are thoracic, which affect approximately 60% of cases seen, thoracoabdominal which affects 7% of patients, abdominal which composes 30% of cases, and lastly cervical which is the rarest type, affecting only 3% of infants, (Basar et al, 2023). Thoracic ectopia cordis is commonly seen to be a result of sternal developmental issues, the thoracoabdominal type is a mixture of bone malformations and abdominal muscular deformities. Cervical ectopia cordis is composed of the deformities of the muscles that attach to the cervical vertebrae, mandible, and clavicles. This may include deformities in, or be absent of some ribs, or the sternoclavicular joint. Unfortunately, treatment varies as the only types of ectopia cordis where treatment has some chance of survival, is abdominal, thoracic, and thoracoabdominal. Cases like clavicle ectopia cordis generally don’t make it past surgery due to complications resulting from the disorder. Therefore, while surgeons will place the heart back into the chest, the chance of the child surviving to the following morning is incredibly dim. The treatment involved in most other ectopia cordis cases however involved placing the heart and other organs back into the chest cavity, fixing any concerning heart abnormalities, repairing the sternum, and closing the hole in the chest with cadaver skin, (Alphonso et al, 2003). Even though there is a survival rate of only 10% after surgery, there are lifelong complications experienced by individuals who are able to survive the procedure without contracting sepsis. These conditions include but are not limited to cardiac conditions, such as: arrhythmias, endocarditis, peripheral embolisms, stenosis of the tricuspid and mitral valves, there are also complications like thoracic infections, lung displacement, and hypoxemia, (Gabriel et al, 2014). 

There is however a treatment method using alloplastic materials to replicate the sternum in order to repair thoracic/abdominal ectopia cordis. Using such a method of treatment would sufficiently protect the heart and other vital organs from external puncture or damage, lowering the risk of long term complications, (Kim et al, 1997). However, while the use of prosthetic sternal replacements is a valid procedure, it is not commonly used due to the possible damage that could result in the heart pumping against plastic or metal. There is also the factor of accessibility, these patients require intense medical care for the rest of their lives, it would not be beneficial to repeatedly have to remove the prosthetic or injure other areas to gain access to the surgical sight. 

While ectopia cordis is generally considered to be a lethal disorder with a low survival rate, there are numerous cases of individuals living full functioning lives outside of their condition. Ectopia cordis is not a death sentence as today we have the technology available to properly repair the abnormality and monitor the condition of the patient efficiently, should the infant make it past the first few months following the emergency surgery, and should the individual take proper precaution to avoid chest injuries, they will likely make it to adulthood. 

Link to Photos:

https://drive.google.com/file/d/1_bTgS-OQX89SO9X6mPpdfzy-tsdabyJc/view