Ectopia Cordis

A life threatening genetic disorder. ~~ By: Palak Desai

What is Ectopia Cordis?

Ectopia Cordis is a very serious, but extremely rare, genetic disorder. It is when someone's heart is located outside of the body or in an abnormal area. Ectopia Cordis is caused when the heart is not fully mature. Ectopia Cordis can cause an early death in a baby, and it can also cause a stillbirth.

How is Ectopia Cordis linked with genetics?

Ectopia Cordis is caused by a recessive allele. It is a sex-linked disorder, and it is linked to the X chromosome. This disease is specifically caused by chromosome 16.

Symptoms of Ectopia Cordis

There usually aren't any symptoms of Ectopia Cordis, other than abnormalities with your heart, since most babies that are affected by it dies almost immediately. But long time survivor of Ectopia Cordis, Christopher Wall, 40, has symptoms such as hearing loss, slurring of speech, and is learning disabled.

How is Ectopia Cordis passed down?

Although Ectopia Cordis is caused by a recessive allele, most people that get diagnosed with it haven't lived past the first few days of their birth. The people that have survived have not yet had any children of their own.

Treatment for Ectopia Cordis

So far there hasn't been much treatment for Ectopia Cordis. But a form of treatment that do exist is surgery. Usually they operate on the baby to see if there is enough room in it's body to tilt a bit of the heart back inside. If that doesn't work, they can also take a bit of your hip bone and cover your heart with it to protect it.

Prognosis for the Future

People with Ectopia Cordis are highly likely to have a very poor prognosis based on the severity of the malfunctions in the heart. Even if people with Ectopia Cordis do end up living to an age where they can reproduce, which has never happened before, the quality of their child's life could possibly be as bad as their's.

How is Ectopia Cordis diagnosed?

Nowadays, Ectopia Cordis is diagnosed when a mother goes to get her ultrasound when she is pregnant. At that ultrasound they can tell what conditions the baby is going to have. Ectopia Cordis is a very rare genetic disorder. About 1 out of 126,000 babies are born with Ectopia Cordis. This disorder is more common in females than it is in males.
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