Ectopia Cordis

Medical Author: David Perlstein, MD, MBA, FAAP
Medical Editor: Melissa Conrad Stöppler, MD

When I heard about Ryan Marquiss and saw his smiling 3 year old toddler face I was pretty much amazed, but pleased. Ectopia cordis is an exceedingly rare defect in which the heart, in part or in its entirety, forms outside the chest cavity. It is considered as one of the less common cardiac malpositions (defects characterized by the heart or great vessels developing in the wrong place). When I say rare, I mean rare. Ectopia cordis occurs in 5-7 per one million live births and is associated with an extremely high mortality rate. There are five different types of ectopia cordis that are defined by the position of the heart outside the body. Prior to the era of ultrasound, ectopia cordis was not diagnosed prenatally but after delivery. Today most cases of ectopia cordis are diagnosed in the second trimester.

So, how is it that Ryan Marquiss is doing as well as he is? I have no idea. Statistically speaking, he probably should not be alive; however, statistically speaking, he can be alive. That simply means that there are always outliers in life, and although we can predict many things, there will always be those cases that don't meet the norm. Researchers and clinicians can only use previous experience to guide future predictions, and in the case of very rare disease entities, the data may not be robust enough to predict close to 100% of the outcomes. That being said, I do not know enough about Ryan's medical history to explain how he has beaten the odds, but I am pleased he is happy and thriving. Perhaps there is something unique about Ryan's defects that will lead us to better identify those fetuses affected with ectopia cordis that may have a better chance of survival.

REFERENCE:

Perloff, Joseph K. "The cardiac malpositions." American Journal of Cardiology 108.9 (2011): 1352-1361.


Last Editorial Review: 2/24/2012 7:01:40 PM