Ectopia means outside, and Cordis means heart, and together, they describe a rare congenital condition where the heart of a baby is located outside the chest cavity. Only 8 babies out of 1 million babies are born with ectopia cordis. It is a serious, life-threatening birth condition with a low chance of survival. Babies born with this condition are either stillborn or die within a few days after birth if the condition is left untreated. However, with the help of corrective surgery and occupational and physical therapy, babies born with ectopia cordis can survive for years.
Let’s take an in-depth look at how babies get ectopia cordis while in the womb, what symptoms to look out for, and the treatments that are currently available.
Ectopia cordis is one of the rarest congenital heart abnormalities. It is a life-threatening medical condition with a low chance of survival. In this condition, the heart develops abnormally, partially or entirely outside the chest, and remains unprotected without any covering of muscles and bone.
Partial ectopia cordis occurs when the heart is present beneath the chest wall but is still covered by skin. While the overlying skin may somewhat protect the heart, it remains exposed to the outside environment, which can lead to serious health risks. On the other hand, complete ectopia cordis is a more severe form, where the heart is entirely outside the chest wall, completely unprotected. This type presents even greater challenges, as the heart is fully exposed and susceptible to trauma, infection and other life-threatening complications.
Ectopia cordis is classified based on the heart’s position in the baby:
1. Cervical: In this type of ectopia cordis, the heart is abnormally located near the spine.
2. Thoracic: In this type, the heart is located near the breastbone and above the abdomen.
3. Thoracoabdominal: The heart is located further down the chest before the abdomen.
4. Abdominal: The heart grows near or inside the abdomen.
The exact cause of the ectopia cordis of the fetus is unknown. When the sternum or breast bone is underdeveloped in the fetus, it may lead to ectopia cordis. Several factors and conditions may contribute to this congenital disorder, such as:
● Physical changes during pregnancy may lead to limited growth of the fetus, leading to abnormal chest development.
● Intrauterine drug exposure.
● Chromosomal conditions, such as Turner syndrome and trisomy 18.
While trying to investigate the cause of Ectopia cordis, genetic factors have emerged as a significant area of focus for researchers. Recent studies have shown the absence of a specific gene known as BMP2 as a potential cause. The lack of this gene makes it tough for the baby’s heart and chest to develop in the womb.
The main symptom of ectopia cordis is the growth of the heart outside the chest cavity, which is evident after birth. The baby may also have midline abnormalities when suffering from ectopia cordis. Other symptoms of ectopia cordis are cranial cleft, cleft lip, underdeveloped lungs, curved spine (Scoliosis), and a hole in the diaphragm.
An early ultrasound scan in the first and second trimesters can help detect ectopia cordis. Your doctor may recommend another scan for further diagnosis. Magnetic resonance imaging (MRI) and echocardiography, which create images of the heart in the fetus, can help track the baby's development.
Ectopia cordis is a rare, life-threatening congenital condition that can be treated after the birth of the baby. Ectopia cordis survival rate is very low as the baby may suffer from serious complications after delivery. Detecting the condition earlier can increase the chance of successful treatment.
Treatment for ectopia cordis must start immediately after birth as the heart is open and highly susceptible to damage and infections. A C-section is usually recommended to deliver the baby. Ventilator support is given to the newborn as it helps the baby to breathe. Emergency surgery can be carried out to place the heart inside the chest cavity when there is sufficient space. When there is no room in the chest cavity, the heart is covered by a skin graft or heart shield. The treatment depends on the type of ectopia cordis. Surgery is done in several steps.
● Firstly, the surgeon repositions the heart, and the chest wall abnormality is corrected.
● Next, a synthetic material is used for a temporary closure.
● Surgeons may perform additional surgeries to correct heart or abdominal malfunctions.
● The chest wall is constructed using bones and cartilage crafts.
Surgeons find it challenging to protect the heart throughout the surgery.
Babies born with ectopia cordis develop other medical conditions as well that may require immediate medical treatment.
Ectopia cordis causes babies to have unprotected hearts, resulting in various complications. They are highly susceptible to infections and injury. Babies with ectopia cordis suffer from low blood pressure, breathing issues, improper blood circulation, and electrolyte imbalance. Stillbirth and neonatal death can occur in babies with ectopia cordis.
Babies who survive this condition should not be involved in strenuous activities. Some may suffer from breathing issues as they suffer from heart conditions. Children with ectopia cordis may suffer from mental and developmental delays. Other complications of ectopia cordis are congenital heart disorders, gastrointestinal issues, skeletal deformities, and cleft palate.
Continued Research is Key to the Future of Ectopia Cordis Care
Continued advancements in research and medical technology offer a beacon of hope for babies born with ectopia cordis. With a deeper understanding of the genetic factors involved and improvements in surgical procedures, the potential for better treatment outcomes grows, offering families optimism and brighter futures for affected children.
Pentalogy of Cantrell is a congenital syndrome that may affect the heart, pericardium, diaphragm, sternum, and abdominal wall. A fetus with pentalogy of Cantrell may also have ectopia cordis.
Yes, environmental factors may contribute to the development of ectopia cordis in the fetus.
Ectopia Cordis is classified based on the location of the heart of the growing fetus. The different types of ectopia cordis are:
Typically, corrective surgery will be performed after the birth of the baby once the child is strong enough to withstand it. The heart will be placed in the correct location, and the chest wall will be closed.
