About thoracoabdominal ectopia cordis
What is thoracoabdominal ectopia cordis?
Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.
What are the symptoms for thoracoabdominal ectopia cordis?
Ectopia cordis is defined by its main symptom: the heart being outside the body. Babies who have this condition often also have other “midline defects” (problems along the line going up and down in the center of the body, from the head to the groin), including:
- Cranial cleft (a split in the baby’s face shape)
- Cleft lip/palate (a split in the baby’s upper mouth)
- Lungs that are not fully developed
- Scoliosis (curved spine)
- Abnormal hole in the diaphragm (the muscle between the chest and abdomen)
What are the causes for thoracoabdominal ectopia cordis?
According to the National Organization for Rare Diseases, the exact cause of this condition is unknown in about two-thirds of cases.
Age and gender are the greatest risk factors for the disease. According to the National Center for Biotechnology Information, it occurs most often between the ages of 40 and 60. However, it can develop at any age. The condition occurs twice as often in men as in women.
Specific conditions linked with retroperitoneal fibrosis can include:
- exposure to asbestos
- actinomycosis, which is a bacterial infection
- histoplasmosis, which is a fungal infection
- recent trauma of the abdomen or pelvis
- abdominal or pelvic tumors
The disorder can also be associated with:
- recent surgery on the abdomen or pelvis
- the use of cancer treatments involving external beam radiation
- certain medications to treat migraines and high blood pressure
What are the treatments for thoracoabdominal ectopia cordis?
If the mother never had an ultrasound or the deformity wasn’t visible, the condition is immediately apparent at birth.
Infants who survive birth with this condition require intensive care. This may include incubation and use of a respirator. Sterile dressings may be used to cover the heart. Other supportive care, such as antibiotics to prevent infection, is also needed.
In some cases, surgeons can attempt to relocate the child’s heart inside their chest and close their thoracic cavity. This type of surgery has many challenges, especially if the child has several severe defects.
Surgery is most likely to be approached in stages. During the initial operation, the heart must be repositioned and the chest wall defect must be covered. Surgeons can create a temporary closure with synthetic material.
Additional surgeries may be needed to repair any other heart or abdominal wall defects. Subsequent surgeries to reconstruct the chest wall can be performed using bone and cartilage grafts.
Through it all, the heart must be protected.
What are the risk factors for thoracoabdominal ectopia cordis?
Ectopia cordis happens because all or at least part of a child’s breastbone (sternum) fails to develop normally. Instead of closing up, the chest remains open. This happens very early on in embryonic development.
The exact reasons for this aren’t clear. It’s considered a random abnormality.
Some theories include:
- chromosomal abnormalities
- intrauterine drug exposure
- rupture of fetal membranes (chorion) or yolk sac
Damage to the amniotic sac (amniotic band syndrome) may also be a cause. A rupture of the sac in early development can cause fibrous bands of amnion, the inner membrane of an embryo, to get tangled up with the embryo. This can impair development or cause deformities of the affected parts, including the heart.
A male fetus is more likely to develop ectopia cordis.
More research into the causes and risk factors for ectopia cordis is needed.
Is there a cure/medications for thoracoabdominal ectopia cordis?
Thoracoabdominal Ectopia Cordis is an extremely rare birth defect where the heart ti abnormally located either partially or entirely outside the chest cavity and placed between eh abdominal and thoracic cavities. This leaves the heart in a defenseless location, exposed outside of this protected chest wall. The condition is often diagnosed during the ultrasound as early as the first trimester or will be instantly apparent at birth.
- The condition occurs when the sternum of an infant fails to develop normally.
- This develops early on in embryonic development. Infants who survive this condition need intensive care that involves incubation and a respirator.
- The surgery process involves the repositioning of the heart and providing sufficient coverage for the defect in the chest wall.
- It will be followed by a series of additional surgeries and lifelong medical care.
- Around 90% of fetuses with this condition are stillborn and those who survive will die within a few hours or days.
- Nonetheless, the chances of cure depend on the complexity of the condition, considering the further heart defects or other complications.
Difficulty in breathing, appearing bluish (cyanotic) in color due to insufficient oxygenation of the blood, low blood pH, electrolyte imbalance, round back or hunchback due to excessive curvative in the upper back, spinal defect
Congenital heart defects and anomalies, Skeletal deformities, Cleft palate, and lop, Abnormalities in abdominal region, gastrointestinal defects, Meningocele (where a sac of spinal fluid protrudes from spinal column), Encephalocele (where spinal fluid, brain membranes, and brain tissue protrude from the skull)