Revision 18 for 'Ectopia cordis'

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Ectopia cordis

Ectopia cordis is an extremely rare congenital malformation where the heart is located partially or totally outside the thoracic cavity.  

The four main ectopic positions include:

  • adjacent to the thorax: ~60 %
  • abdominal: 15-30%
  • thoraco-abdominal: 7-18% 
  • cervical: ~3%

Epidemiology

The estimated prevalence is 1:126,000 births. There may be a slight female preponderance ref.

Pathology

It results from the failure of migration of lateral mesoderm into the midline.

Ectopia cordis may occur as an isolated malformation or it may be associated with a larger category of ventral body wall defects that affect the thorax, abdomen or both.

Associations
Individual associations

Ventricular septal defect and tetralogy of Fallot are the most common intracardiac defects and omphalocele, the most common abdominal wall defect.

Syndromic associations

A well-known association is pentalogy of Cantrell 1 which comprises of:

Radiographic features

Antenatal ultrasound

When in isolation, the heart is seen in the amniotic cavity with a thoracic wall defect. If in association with pentalogy of Cantrell it may seen within an omphalocoele 2.

Plain film: chest radiograph
  • imaging clues on frontal chest radiograph:
    • abnormal cardiac position and configuration
    • air lucency may surround the ectopic heart
    • sternal defect is often present
    • wide separation of the sternal ends of the clavicles
    • widening of the superior mediastinum
  • lateral view may confirm the extrathoracic location of the heart

Treatment and prognosis

The prognosis is generally poor and depends on the severity of intracardiac malformations and the presence of associated abnormalities. Most infants are stillborn or die within the first hours or days of life.

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