Ectopia cordis: types, classification, causes, associated malformations, prognosis

In medicine, the term ‘ectopia’ means the placement of an organ of the body in the wrong place. Ectopia cordis’ or ‘ectopia of the heart’ or ‘cardiac ectopia’ in medicine refers to a group of rare anatomical abnormalities that have in common a congenital cardiac malformation, i.e. already present at birth, characterised by an abnormal position of the heart

The expression ‘ectopia cordis’ is derived from the combination of the Greek and Latin terms:

ἔκτοπος (pronounced ‘èctopos’) meaning ‘displaced’;

cordis (pronounced ‘còrdis’) meaning ‘heart’.

In turn, the term ‘ἔκτοπος’ is derived from:

ἔκ (pronounced ‘ec’) meaning ‘out’;

τόπος (pronounced ‘tòpos’) meaning ‘place’.


Types of ectopia cordis

In the most common form, the heart protrudes from the chest through an opening in the sternum; in another form, dextrocardia with situs inversus occurs (frequently associated with Kartagener’s syndrome, a subtype of primary ciliary dyskinesia).

In other cases, the heart may be located in the abdominal cavity, on the neck or other anatomical sites.

Ectopia cordis occurs in approximately 8 infants per million live births.

Depending on the location of the heart at birth, four different categories of ectopia cordis can be identified:

  • cervical;
  • thoracic;
  • thoraco-abdominal;
  • abdominal.

The exact cause of ectopias of the heart has not been identified, but this condition is frequently found in Turner syndrome and Edwars syndrome (Trisomy 18); however, so far there is no evidence that it is a genetically transmissible disease.

Associated malformations

Other birth defects such as cleft lip and palate and kyphotic malformations of the spine are also often present.

Other organs may also be located outside the natural limits of the body.

The ectopic heart is generally not protected by the skin or sternum and other congenital heart defects may be associated with this condition, including tetralogy of Fallot, pulmonary atresia and interventricular septal defect.


This condition is usually fatal in the first few days of life.

In some cases, surgical treatment is possible: some cases of ectopia cordis can be treated surgically through a long and complex operation.

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