The image shows a neonate with Ectopia Cordis - the heart is displaced outside the thoracic cavity through a sternal defect, covered by a thin membranous layer. There is perioral cyanosis and peripheral congestion visible.
Here is a 3-mark spotting question based on this image:
Spotting Question (3 Marks)
"A newborn is brought to the NICU immediately after birth. The image shows the clinical finding noted on examination."
Q1. What is the diagnosis? (1 mark)
Answer:Ectopia Cordis - a rare congenital anomaly where the heart lies partially or completely outside the thoracic cavity due to failure of midline fusion of the chest wall (sternal defect).
Q2. What are the components of the associated syndrome that must be screened for in this neonate? Name it and list its components. (1 mark)
Answer:Pentalogy of Cantrell - comprises five defects:
Intracardiac anomaly (e.g., VSD, Tetralogy of Fallot)
Q3. What is the embryological basis of this condition, and mention one immediate life-threatening complication? (1 mark)
Answer:
Embryological basis: Failure of lateral mesodermal folds to fuse in the midline during the 3rd-4th week of embryonic development, resulting in incomplete formation of the sternum and anterior chest wall.
Immediate complication: Cardiac compression or rupture of the covering membrane leading to cardiac tamponade, infection/sepsis, or acute cardiac failure due to the unprotected, externally exposed heart.
Spot in 1 line:Neonate with heart protruding through a midline anterior chest wall defect, covered by a thin membrane - Ectopia Cordis.
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