What Is Ectopia Cordis? Causes, Prevention, and Treatment

What is Ectopia Cordis?

It is an extremely rare congenital disorder in which a child is born with his/ her heart outside of the thoracic cavity. This is a very serious and fatal condition with the majority of babies born dead or dying just within 3 days of childbirth.

How is Ectopia Cordis Diagnosed?

Ectopia Cordis can be diagnosed by routine prenatal ultrasonography as early as in 10-12 weeks of pregnancy. Most of those not diagnosed antenatally result in stillbirth or die shortly after birth due to their frequent association with intrinsic cardiac and other congenital defects.

Ultrasound – imaging uses sound

waves to produce pictures of the fetus inside of the body. Ultrasound scans are used to evaluate fetal development. It is safe, noninvasive, and does not use ionizing radiation. Three-dimensional ultrasound along with Doppler gives an accurate early diagnosis.

Plain radiograph – will confirm the abnormal location of the heart and defect in the breast bone [sternum] in an infant along with other skeletal anomalies.

Types of Ectopia Cordis?

Depending upon the location of the heart, it can be classified into five types:

Cervical (5%), Cervicothoracic and thoracic (65%), Thoracoabdominal (20%) and abdominal (10%). The combination of thoracoabdominal Ectopia Cordis, lower sternal defect, anterior diaphragmatic hernia, midline supraumbilical defect along with pericardial and intracardiac defects constitute the Pentalogy of Cantrell.The thoracic variety, as the present case was, has been reported to have worst prognosis with <5% surviving beyond the first month of life.

Causes of Ectopia Cordis

The exact cause of this condition is not certain but a few reports have linked it to an abnormal formation of the chest wall and abdominal wall structure and some chromosomal abnormalities.

During fetal development, the breastbone [sternum] does not develop properly. This leads to abnormal placement of the heart in the fetus. The pathology behind ectopia cordis could be due to improper alignment of the mesoderm (one of the three germ layers in a very early embryo) at the midline. Some theories suggest chromosomal abnormalities. Studies indicate that damage or rupture of the amniotic sac in early stages of pregnancy can cause fibrous bands of amnion [the inner membrane of an embryo] leading to deformities of the heart. This is also known as amniotic band syndrome. Other theories suggest an intrinsic defect of the blood circulation called the vascular disruption theory or a fault during the fetal folding process.

Ectopia cordis is usually associated with other congenital defects.

Intracardiac defects:

Ventricular septal defect (common) – a hole between the ventricle or lower chambers of heart

Tetralogy of Fallot (common) -includesventricular septal defect, pulmonary stenosis, (narrowing of the artery that connects the heart with the lungs), an overriding aorta, and right ventricular hypertrophy

Atrial septal defect – a hole between the atrium or upper chambers of heart

Tricuspid atresia – absence of the tricuspid valve

Double outlet right ventricle – where the great arteries connect to the right ventricle

Non-cardiac defects:

Omphalocele (common) – a rare abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac.

Cleft palate – a birth defect that occurs when a baby’s lip or mouth does not form properly during pregnancy.

Skeletal dysplasia – is a complex group of bone and cartilage disorders that affect the fetal skeleton.

Hydrocephalus -fluid buildup in the brain.

Hypoplastic lung disease – is a failure of development of the lungs in a fetus. There is less blood flow and inadequate gas exchange which may lead to electrolyte imbalance in the body [dyselectrolytemia].

Meningocele – protrusion of the membranes that cover the spine through a bone defect in the vertebral column.

Pentalogy of Cantrell: The thoracoabdominal ectopia cordis type can be present along with other associated anomalies that involve the diaphragm, abdominal wall, pericardium (membrane that lines the heart), heart and lower sternum.

Thoracoabdominal ectopia cordis with lower sternal cleft

Omphalocele

Anterior diaphragmatic hernia

Diaphragmatic pericardium defects

Congenital intracardiac defects like ventricular septal defect or Tetralogy of Fallot.

If the rib cage of a developing fetus does not form properly, the heart can develop outside of the body without the protection of skin, muscle, and bone. Ectopia cordis is also commonly linked to defects in the sternum (breastbone), pericardium (membrane that covers the heart), and abdominal wall as well as to chromosomal conditions such as trisomy 18 and Turner syndrome. One recent theory is that some embryos lack a certain gene called BMP2, and that makes it harder for the heart to form and the front of the baby’s chest to develop. If a fetus survives until birth, immediate treatment to cover the heart or place it within the body can be life-saving but risky.

Prevalence of Ectopia Cordis

Its estimated prevalence is 5.5–7.9 per million live births. It affects around one in 126,000 births. The cause of ectopia cordis is unknown, but males tend to be affected more often than females. There has not been a reported case of recurrence of ectopia cordis in a sibling.

Symptoms of 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 Complications of Ectopia Cordis?

If the heart is positioned completely outside the body the heart is extremely vulnerable to injury and infection.

The associated medical problems that most infants born with ectopia cordis face such as atrial septal defect, ventricular septal defect, cleft palate, spinal defects, imperfectly formed lungs, and meningocele may cause poor circulation, difficulty in breathing, low blood pressure and electrolyte imbalance.

Treatment of Ectopia Cordis

To assist with safeguarding the child, you’ll have to birth your baby by a C-Section. Your baby might require additional assistance to relax. Specialists might embed an adaptable plastic cylinder into their windpipe to keep air streaming, and they likewise may give the child an extraordinary fluid through that tube that covers the lungs, ensuring they can take in oxygen well.

To treat ectopia cordis itself, the fundamental objective of medical procedure is to close the open chest wall. The specialist and medical services group will likewise put the heart inside the chest and fix some other cardiovascular imperfections. Whether these medical procedures can happen relies upon the sort of ectopia cordis. Likewise, on the off chance that the child has digestive tracts or stomach organs beyond their body, the careful group will embed these into the mid-region.

Medical procedures are much of the time done in a few stages. The main test is to squeeze the heart into a more modest than-ordinary chest depression. After your child’s primary care physician does this, they will fix the sternum. Heart transfers aren’t generally a choice.

Other key things that influence treatment and results are whether the heart is completely revealed or on the other hand assuming it’s covered by a serous layer (the tissue that lines body pits) or common skin.

So, basically the treatment for Ectopia Cordis is mainly surgical and it is aimed at repairing the defect and then returning the heart back to its normal location. But even with intervention, the survival rate is still very poor.

Survival Cases

Crisis medical procedure is normally done following birth.

In 2017, a review saw 17 instances of ectopia cordis at two clinical focuses somewhere in the range of 1995 and 2014. It found that six youngsters matured somewhere in the range of 1 and 11 were getting by, however two of them were subject to ventilators for relaxing.

A 2013 blog entry from the Texas Children’s Hospital commends a child brought into the world with ectopia cordis who endured a medical procedure and praised her most memorable birthday. At that point, an outside safeguard safeguarded her heart. The outer safeguard will be supplanted by one inside her chest whenever the situation allows.

A recent report taking a gander at the circumstance of an 11-year-old boy who had an effective medical procedure to cover his heart as a baby, found that he had for the most part great personal satisfaction, had the option to take part in sports, and could go to a school for youngsters with unique requirements.

With clinical advances, specialists trust that this endurance rate will move along.

OUTLOOK

Getting a neonatal scan in the initial 12 weeks of pregnancy is critical to recognizing an inherent condition, for example, ectopia cordis. In the event that a decision is made to end the pregnancy, a clinical expert ought to offer help and fair guidance on fetus removal.

The pregnant lady may likewise be given the decision of solace care or prompt a medical procedure following the birth in the event that she decides to convey the child to full-term. This choice might be impacted by the seriousness of any hidden heart surrenders found previously or after birth.

Ectopia cordis will frequently bring about stillbirth or neonatal demise. Associations, for example, the American Pregnancy Association can offer close to home help and direction for individuals during this troublesome time.

Getting through ectopia cordis presents further difficulties, including a medical procedure and continuous clinical necessities. Notwithstanding, examination and treatment choices are ceaselessly improving, so the viewpoint for babies determined to have ectopia cordis will ideally work on over the long haul, as well.

Conclusion

Ectopia cordis happens in simply 5.5 to 7.9 births in each million. As a hatchling develops, the heart creates beyond the chest depression.

It very well might be incomplete, with some portion of the heart still inside the chest, or complete, with the heart totally beyond the chest. Frequently, the heart has different imperfections.

There are four primary situations in which the heart can foster in a baby with ectopia cordis:

in 60% of cases, it is promptly beyond the chest

in 15-30 percent of cases, it creates in accordance with the stomach

in 7-18 percent of cases, it is between the chest and the stomach

in under 3% of cases, it creates in accordance with the neck

What causes ectopia cordis?

More examination is required into the potential reasons for ectopia cordis. It is innate, implying that the condition is created in the belly and is available from birth.

The breastbone or sternum is a long, level bone that interfaces with the ribs and structures the forward portion of the rib confine, safeguarding the heart and lungs. In the event that the breastbone neglects to foster appropriately in an embryo, the heart can foster beyond the chest since it isn’t held back by the rib confine.

The condition may likewise show up as a feature of an uncommon peculiarity known as the pentalogy of Cantrell, in which different pieces of the body, like the stomach and diaphragm, have likewise not been perfectly located.

Clinical experts will give unprejudiced guidance on all available treatment choices and the dangers implied.

The core of a baby begins to foster right off the bat in pregnancy, with the bones starting to frame in practically no time subsequently.

The heart ought to start to thump consistently during the initial not many long stretches of fetal turn of events, and the rib enclosure will shape to encase the heart during the primary trimester or the initial 12 weeks of pregnancy.

Routine ultrasound filters during the beginning phases of pregnancy normally recognize ectopia cordis.

In the unlikely occasion that ultrasound doesn’t recognize ectopia cordis, the condition will be obvious upon entering the world.

Opportunities for treatment are better assuming any issues with the embryo’s improvement are found during pregnancy since specialists can make arrangements for crisis care following the birth.

Is treatment conceivable?

The survival rate for ectopia cordis is around 10%, with most occurrences of the condition bringing about a stillbirth. Most babies that endure birth will tragically kick the bucket inside the space of hours or days.

Having the option to recognize the condition from the get-go in pregnancy can be a benefit. Assuming the heart is generally solid, the opportunity of effective treatment is higher.

By Chioma Okwara