Ectopia cordis

A rare congenital malformation where the heart is located outside the thoracic cavity

Ectopia cordis is a rare congenital malformation characterized by the abnormal location of the heart outside the thoracic cavity. This condition is often associated with other congenital disorders and presents significant challenges for surgical intervention.

Presentation

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Ectopia cordis in a newborn

Ectopia cordis is typically diagnosed at birth or through prenatal imaging techniques such as ultrasound or magnetic resonance imaging (MRI). The heart may be located partially or completely outside the chest cavity, and the condition is often associated with defects in the sternum, pericardium, and diaphragm.

Classification

Ectopia cordis can be classified based on the location of the heart:

• Cervical ectopia cordis: The heart is located in the neck region.
• Thoracic ectopia cordis: The heart is located in the chest but outside the rib cage.
• Thoracoabdominal ectopia cordis: The heart is located between the thorax and abdomen.
• Abdominal ectopia cordis: The heart is located in the abdominal cavity.

Associated anomalies

Ectopia cordis is often associated with other congenital anomalies, including:

• Omphalocele
• Pentalogy of Cantrell
• Congenital heart defects
• Cleft sternum

Pathophysiology

The exact cause of ectopia cordis is not well understood, but it is believed to result from a failure in the development of the ventral body wall during embryogenesis. This failure leads to the incomplete closure of the thoracic cavity, allowing the heart to develop outside its normal location.

Diagnosis

Prenatal diagnosis of ectopia cordis can be achieved through advanced imaging techniques. Ultrasound is commonly used to detect the condition during routine prenatal screenings. MRI can provide more detailed information about the extent of the defect and associated anomalies.

Management

Management of ectopia cordis is complex and requires a multidisciplinary approach. Surgical intervention is often necessary to reposition the heart and repair associated defects. The timing and feasibility of surgery depend on the severity of the condition and the presence of other anomalies.

Prognosis

The prognosis for individuals with ectopia cordis varies widely and depends on the severity of the condition and the presence of associated anomalies. In many cases, the condition is life-threatening, and survival rates are low. However, advances in surgical techniques and neonatal care have improved outcomes for some patients.

Related pages

• Congenital heart defect
• Pentalogy of Cantrell
• Omphalocele