Ectopia cordis is a rare condition in which the heart is partially or completely located outside of the chest cavity. This occurs when the structures of the front chest wall fail to fuse together early in fetal development. Ectopia cordis can be detected via ultrasound as early as the tenth week of gestation. Males are nearly twice as likely to be affected by this condition as females. Ectopia cordis has an incidence rate between 5.5 and 7.9 per million live births.
There are four subtypes of ectopia cordis, based on the location of the heart: cervical (neck), thoracic (chest), thoracoabdominal (pentalogy of Cantrell), and abdominal (abdomen). The heart may be fully exposed, covered by a membrane, or covered by skin. Thoracic ectopia cordis is the most common subtype.
A fetal echocardiogram is recommended following this diagnosis to determine if the internal anatomy of the fetal heart has additional anomalies. Further testing through detailed ultrasound, maternal serum screening, and fetal karyotyping is recommended, as ectopia cordis is also associated with aneuploidy, neural tube defects, and omphalocele.
Ectopia cordis has a high rate of stillbirth and death within the perinatal period. Long-term survival is possible in cases of isolated ectopia cordis, but this condition is considered fatal when additional cardiac anomalies are present. The recurrence risk is almost non-existent for this condition.