Ectopia cordis is an extremely rare and intricate disorder where children are born with their hearts located outside their bodies. The prognosis for individuals with this condition remains generally unfavorable, but advancements in medical technology have improved the likelihood of survival.
According to healthline ectopia cordis is often caused by an abnormal fusion of embryonic structures shortly after fertilization. Normally, during pregnancy, the embryo develops as five distinct structures, known as “germ layers,” migrate and divide in an organized manner. However, in ectopia cordis, these structures fail to fully separate, resulting in their fusion. This fusion leads to the formation of an irregularly shaped thoracic wall (comprising the abdominal and chest walls) that fails to adequately enclose the heart. Consequently, the heart may be visibly outside the baby’s body at birth.
Most cases of ectopia cordis are diagnosed prenatally through ultrasound imaging. Interestingly, the condition often presents as an open book or “dinary” appearance, with the chest and abdominal walls partially separated, leaving the baby’s heart exposed.
Despite the generally poor prognosis, advances in medical technology have increased the chances of survival for those affected by ectopia cordis. Through modern technology and aggressive intervention, some infants born with this condition have survived and even achieved developmental milestones like crawling and walking.
For the best chance of survival, immediate treatment is crucial, and the baby should be promptly transferred to a neonatal intensive care unit (NICU). In some cases, the preferred treatment involves surgery to close the thoracic wall defect and secure the heart within the chest cavity. Depending on the size of the defect, the surgery may involve the placement of a patch to cover the hole and secure the heart or a full sternotomy (a surgical opening from the middle of the chest to the abdomen) to gain access and close the defect.
In certain instances, cardiopulmonary bypass is utilized to redirect blood flow around the heart and lungs, allowing the surgeons to access and close the defect. This technique has significantly improved outcomes as it maintains continuous circulation of blood and oxygenation of the baby’s tissues.
Following surgical closure, the baby often requires intensive medical care and close monitoring for associated medical conditions. Alongside vigilant observation for signs of infection or cardiac instability, long-term follow-up with an experienced cardiac team is necessary to monitor for any potential complications.
While the prognosis for infants born with ectopia cordis remains challenging, advancements in medical technology have enhanced their chances of survival. With prompt treatment and proactive intervention, some babies have defied the odds, surviving and thriving.