Although the exact and precise etiology still not known, Ectopia cordis is largely ascribed to the improper development of the chest cavity’s structure during the embryonic stage (specifically in the 8th day of the embryonic life). The midline mesoderm unsuccessfully follows the proper maturation it was supposed to have and the anterior (ventral) body wall formation proper development fails.
The lateral body walls, (mainly responsible for the proper connection of the ventral or anterior walls), have failed to initiate fusion. Usually, this improper or incomplete fusion of the ventral walls occurs in the 9th week of life.
The mechanical theory explains the early rupture of chorion and/or yolk sac. The chorion causes compression of the thorax that consequently puts a stop to the midline fusion. Therefore, amniotic band syndrome is also known as a mechanical cause of ectopia cordis.
Amniotic band syndrome is a group of birth malformations caused by the ensnarement of the infant anatomical parts (frequently the upper or lower extremity) in amniotic strips while still in the uteros that leads to malformation, disruption or deformation. In effect, the defective ventral wall is not capable of providing the heart its necessary shield of protection. The heart is then left unprotected by its natural protective structures, like pericardium, sternum and even the skin.
The disease can occur as an isolated malposition of the heart or it can be also linked to a much larger case of anterior body wall defects that involves the abdomen or thorax.
The mechanical theory explains the early rupture of chorion and/or yolk sac. The chorion causes compression of the thorax that consequently puts a stop to the midline fusion. Therefore, amniotic band syndrome is also known as a mechanical cause of ectopia cordis.
Amniotic band syndrome is a group of birth malformations caused by the ensnarement of the infant anatomical parts (frequently the upper or lower extremity) in amniotic strips while still in the uteros that leads to malformation, disruption or deformation. In effect, the defective ventral wall is not capable of providing the heart its necessary shield of protection. The heart is then left unprotected by its natural protective structures, like pericardium, sternum and even the skin.
The disease can occur as an isolated malposition of the heart or it can be also linked to a much larger case of anterior body wall defects that involves the abdomen or thorax.
Stillborn infant with Ectopia cordis
The Ectopia cordis condition has also been seen more frequently in the chromosomal abnormalities like Turner Syndrome and Trisomy 18, however there is no evidence that it is a genetically transmissible disease.
Trisomy 18
"A number of these conditions are caused from genetic and inherited causes but we don't know exactly why some children may carry a particular gene and others don't," said Dr. Victoria Vetter, a pediatric cardiologist at the Children's Hospital of Philadelphia,