Ectopia cordis (Greek: ''"away / out of place"'' + Latin: ''"heart"'') or ectopic heart is a

congenital malformation A birth defect, also known as a congenital disorder, is an abnormal condition that is present at childbirth, birth regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellect ...

in which the

heart The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide t ...

is abnormally located either partially or totally outside of the

thorax The thorax or chest is a part of the anatomy of humans, mammals, and other tetrapod animals located between the neck and the abdomen. In insects, crustaceans, and the extinct trilobites, the thorax is one of the three main divisions of the cre ...

. The ectopic heart can be found along a spectrum of anatomical locations, including the neck, chest, or abdomen. In most cases, the heart protrudes outside the chest through a split

sternum The sternum or breastbone is a long flat bone located in the central part of the chest. It connects to the ribs via cartilage and forms the front of the rib cage, thus helping to protect the heart, lungs, and major blood vessels from injury. Sh ...

Pathology

Ectopia cordis results from a failure of proper maturation of midline

mesoderm The mesoderm is the middle layer of the three germ layers that develops during gastrulation in the very early development of the embryo of most animals. The outer layer is the ectoderm, and the inner layer is the endoderm.Langman's Medical E ...

and ventral body wall (chest) formation during

embryonic development An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sperm ...

. 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 defect A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular ...

s, in which the heart has failed to properly form. Defects more commonly associated with ectopia cordis include: * Intracardiac defects **

Atrial septal defect Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper chambers) of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the foramen ovale; however, when this d ...

Ventricular septal defect A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating one ...

Tetralogy of Fallot Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect characterized by four specific cardiac defects. Classically, the four defects are: *pulmonary stenosis, which is narrowing of the exit from the r ...

Tricuspid atresia Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection. This leads to a hypoplastic (undersized) or absent right ventri ...

Double outlet right ventricle Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great arteries connect (in whole or in part) to the right ventricle (RV). In some cases it is found that this occurs on the left side of the heart rather ...

* Non-cardiac malformations **

Pentalogy of Cantrell Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. Presentation There are five characteristic findings in pentalo ...

Omphalocele Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of ...

** Anterior diaphragmatic hernia **

Cleft palate A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...

Diagnosis

The Diagnosis of ectopia cordis is found with a routine ultrasound as early as the first trimester or the beginning of the second trimester.

Treatment

Due to the rarity and rapid postpartum mortality of ectopia cordis, limited treatment options have been developed. Only some successful surgeries have been performed as of now, and the mortality rate remains high.

Prognosis

The prognosis of ectopia cordis depends on classification according to three factors: # Location of the defect #* Cervical #* Thoracic #* Thoracoabdominal #* Abdominal # Extent of the cardiac displacement # 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 Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. Presentation There are five characteristic findings in pentalo ...

. In general, the prognosis for ectopia cordis is poor—most cases result in death shortly after birth due to infection, hypoxemia, or cardiac failure.

Epidemiology

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.

References

External links

{{DEFAULTSORT:Ectopia Cordis Rare diseases Congenital heart defects