Ectopia cordis

Ectopia cordis results from a failure of proper maturation of midline mesoderm and ventral body wall (chest) formation during embryonic development. The exact etiology remains unknown, but abnormalities in the lateral body wall folds are believed to be involved. Normally, the lateral body walls are responsible for fusion at the midline to form the ventral wall. Corruption of this process may underlie ectopia cordis.

Defective ventral body wall formation yields a heart unprotected by the pericardium, sternum, or skin. Other organs may also have formed outside the skin, as well. Many cases of ectopia cordis have associated congenital heart defects, in which the heart has failed to properly form.{{cn|date=February 2021}}

Defects more commonly associated with ectopia cordis include:

• Intracardiac defects
• Atrial septal defect
• Ventricular septal defect
• Tetralogy of Fallot
• Tricuspid atresia
• Double outlet right ventricle
• Non-cardiac malformations
• Pentalogy of Cantrell
• Omphalocele
• Anterior diaphragmatic hernia
• Cleft palate

The diagnosis of ectopia cordis is found with a routine ultrasound as early as the first trimester or the beginning of the second trimester.{{Cite web| url=https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/ectopia-cordis/#:~:text=How%20is%20ectopia%20cordis%20diagnosed,as%20the%20baby%20is%20born. |title = Ectopia Cordis|work = Children's Hospital Colorado}}

Due to the rarity and rapid postpartum mortality of ectopia cordis, limited treatment options have been developed. Only some successful surgeries had been performed as of 2020,{{Cite news | url=https://www.bbc.com/news/health-42322246 |title = Baby has heart put back inside chest|work = BBC News|date = 2017-12-13|last1 = Walsh|first1 = Fergus}}{{Cite web|title=Girl born with heart outside chest (4) - English|url=https://www.ansa.it/english/news/science_tecnology/2020/05/27/girl-born-with-heart-outside-chest-4_fd6da0f9-f239-4e5c-ab23-80d595f4a62c.html|date=2020-05-27|website=ANSA.it|language=en|access-date=2020-05-27}} and the mortality rate remains high.

The prognosis of ectopia cordis depends on classification according to three factors:

1. Location of the defect
2. * Cervical
3. * Thoracic
4. * Thoracoabdominal
5. * Abdominal
6. Extent of the cardiac displacement
7. Presence or absence of intracardiac defects

Some studies have suggested a better prognosis with surgery in cases of thoracoabdominal ectopia cordis or less severe pentalogy of Cantrell. In general, the prognosis for ectopia cordis is poor—most cases result in death shortly after birth due to infection, hypoxemia, or cardiac failure.

The occurrence of ectopia cordis is 8 per million births. It is typically classified according to location of the ectopic heart, which includes:

• Cervical
• Thoracic
• Thoracoabdominal
• Abdominal

Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases.

{{Reflist|refs=

{{cite book |title= Park: Pediatric Cardiology for Practitioners |last= Park |first= Myung K |year= 2008 |publisher= Mosby/Elsevier |isbn= 978-0-323-04636-7 |page= 322 }}

{{cite journal |vauthors=Amato J, Douglas W, Desai U, Burke S | title = Ectopia cordis. | journal = Chest Surg Clin N Am | volume = 10 | issue = 2 | pages = 297–316, vii | year = 2000 | pmid = 10803335}}

{{cite journal | author = Sadler TW | title = The embryologic origin of ventral body wall defects. | journal = Semin Pediatr Surg. | volume = 19 | issue = 3 | pages = 209–14 | year = 2010 | pmid = 20610194 | doi=10.1053/j.sempedsurg.2010.03.006}}{{cite book |title= Kliegman: Nelson Textbook of Pediatrics |last= Bernstein |first= Daniel |year= 2011 |publisher= Elsevier |isbn= 978-1-4377-0755-7 |page= 1599 }}

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| ICD9 = {{ICD9|746.87}}

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| Orphanet = 448270

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Category:Rare diseases

Category:Congenital heart defects