Ectopia cordis is a rare defect in which the heart forms and beats outside of the chest. Ectopia cordis occurs in 5-7 per one million live births and is associated with an extremely high mortality rate due to infection, cardiac failure or lack of oxygen supply (hypoxemia).
Ectopia cordis is characterized by a beating heart outside of the chest cavity in newborn babies. In addition to this, multiple other development failures could be present, like malformation of the heart, malformation of the spine or cleft palates.
The formation of a heart outside of the body occurs because ofa failure in the normal embryonic development (a failure in the maturation of the midline mesodermal componentsof the chest and abdomen).
This leads to a complete or partial displacementof the heart out of the thoracic cavity. There are five different types of ectopia cordis that are defined by the position of the heart outside of the body, ranging from neck to stomach.
Most cases of ectopia cordis are identified through routine prenatal ultrasound. 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. When a case is suspected, the mother will be referred to a pediatric or fetal echocardiologist who will confirm the diagnosis.
Only 8 out of 1 million babies are born with ectopia cordis, and 90% of these babies are either stillborn or die within the first 3 days of life. Despite significant improvements in neonatal and infantcardiac surgeries, operations for ectopia cordiscarry an extremely high mortality. None the less, cases of survival after successful surgery was reported.
Depending on severity and other complicating factors like other malformations, the heart will be placed back into the chest in a single or in multiple operations. Surgical correction of ectopia cordis is complex and generally requires a staged closure including (1) coverage of the "naked heart", (2) placement of the heart into the thoracic cavity, and (3) sternal or thoracic reconstruction.
Parents who receive early diagnosis of ectopia cordis also have the option to induce labor early or to have a therapeutic abortion performed. Parents who choose induced labor expect fatality, but may find comfort in naturally giving birth to a child, having a chance to see and hold that child and to say goodbye. Other parents prefer to end the child’s life without holding or seeing him or her. They find this option less painful than continuing the pregnancy. This difficult decision should be carefully weighed with the help of a skilled counselor.
The prenatal diagnosis of isolated EC is easy; counseling the patient, the perinatal management including term, place, and method of delivery, and optimal care of the newborn are more difficult. Ectopia cordis is a malformation that pediatricians rarely encounter, even at pediatric cardiology centers. To give the child the best possible chance at survival, the baby should be born at a Level 3 hospital, where experienced pediatric cardiologists and surgeons are on hand to immediately address the problems. Birth may be vaginal or Caesarian, as indicated by the high-risk obstetrician.