Ectopia cordis

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Ectopia cordis
Other namesEctopic heart
Specialty Cardiology
Cardiothoracic surgery
Medical genetics

Ectopia cordis (Greek: "away / out of place" + Latin: "heart") or ectopic heart is a congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax. 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. [1]

Contents

Pathology

Ectopia cordis results from a failure of proper maturation of midline mesoderm and ventral body wall (chest) formation during embryonic development. [2] 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. [3]

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.[ citation needed ]

Defects more commonly associated with ectopia cordis include: [1] [2] [4]

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. [5]

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, [6] [7] and the mortality rate remains high.

Prognosis

The prognosis of ectopia cordis depends on classification according to three factors: [1]

  1. Location of the defect
    • Cervical
    • Thoracic
    • Thoracoabdominal
    • Abdominal
  2. Extent of the cardiac displacement
  3. 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. [4]

Epidemiology

The occurrence of ectopia cordis is 8 per million births. [2] It is typically classified according to location of the ectopic heart, which includes:

Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases. [1]

Related Research Articles

An ectopia is a displacement or malposition of an organ or other body part, which is then referred to as ectopic.

<span class="mw-page-title-main">Body cavity</span> Internal space within a multicellular organism

A body cavity is any space or compartment, or potential space, in an animal body. Cavities accommodate organs and other structures; cavities as potential spaces contain fluid.

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<span class="mw-page-title-main">Thorax</span> Frontal part of an animals body, between its head and abdomen

The thorax or chest is a part of the anatomy of 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 creature's body, each of which is in turn composed of multiple segments.

<span class="mw-page-title-main">Cardiothoracic surgery</span> Medical specialty involved in surgical treatment of organs inside the thorax

Cardiothoracic surgery is the field of medicine involved in surgical treatment of organs inside the thoracic cavity — generally treatment of conditions of the heart, lungs, and other pleural or mediastinal structures.

<span class="mw-page-title-main">Dextrocardia</span> Medical condition

Dextrocardia is a rare congenital condition in which the apex of the heart is located on the right side of the body, rather than the more typical placement towards the left. There are two main types of dextrocardia: dextrocardia of embryonic arrest and dextrocardia situs inversus. Dextrocardia situs inversus is further divided.

<span class="mw-page-title-main">Omphalocele</span> Rare abdominal wall defect in which internal organs remain outside of the abdomen in a sac

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 the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.

<span class="mw-page-title-main">Congenital heart defect</span> Defect in the structure of the heart that is present at birth

A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, 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 disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure.

Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen. Clinically heterotaxy spectrum generally refers to any defect of Left-right asymmetry and arrangement of the visceral organs; however, classical heterotaxy requires multiple organs to be affected. This does not include the congenital defect situs inversus, which results when arrangement of all the organs in the abdomen and chest are mirrored, so the positions are opposite the normal placement. Situs inversus is the mirror image of situs solitus, which is normal asymmetric distribution of the abdominothoracic visceral organs. Situs ambiguus can also be subdivided into left-isomerism and right isomerism based on the defects observed in the spleen, lungs and atria of the heart.

<span class="mw-page-title-main">Gastroschisis</span> Defect resulting in visible intestines

Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. Complications may include feeding problems, prematurity, intestinal atresia, and intrauterine growth restriction.

A transthoracic echocardiogram (TTE) is the most common type of echocardiogram, which is a still or moving image of the internal parts of the heart using ultrasound. In this case, the probe is placed on the chest or abdomen of the subject to get various views of the heart. It is used as a non-invasive assessment of the overall health of the heart, including a patient's heart valves and degree of heart muscle contraction. The images are displayed on a monitor for real-time viewing and then recorded.

<span class="mw-page-title-main">Pulmonary atresia</span> Medical condition

Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. The pulmonary valve is located on the right side of the heart between the right ventricle and pulmonary artery. In a normal functioning heart, the opening to the pulmonary valve has three flaps that open and close.

A blunt cardiac injury is an injury to the heart as the result of blunt trauma, typically to the anterior chest wall. It can result in a variety of specific injuries to the heart, the most common of which is a myocardial contusion, which is a term for a bruise (contusion) to the heart after an injury. Other injuries which can result include septal defects and valvular failures. The right ventricle is thought to be most commonly affected due to its anatomic location as the most anterior surface of the heart. Myocardial contusion is not a specific diagnosis and the extent of the injury can vary greatly. Usually, there are other chest injuries seen with a myocardial contusion such as rib fractures, pneumothorax, and heart valve injury. When a myocardial contusion is suspected, consideration must be given to any other chest injuries, which will likely be determined by clinical signs, tests, and imaging.

<span class="mw-page-title-main">Pentalogy of Cantrell</span> Medical condition

Pentalogy of Cantrell is an extremely rare congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

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<span class="mw-page-title-main">3C syndrome</span> Medical condition

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<span class="mw-page-title-main">Ventricular aneurysm</span> Medical condition

Ventricular aneurysms are one of the many complications that may occur after a heart attack. The word aneurysm refers to a bulge or 'pocketing' of the wall or lining of a vessel commonly occurring in the blood vessels at the base of the septum, or within the aorta. In the heart, they usually arise from a patch of weakened tissue in a ventricular wall, which swells into a bubble filled with blood. This, in turn, may block the passageways leading out of the heart, leading to severely constricted blood flow to the body. Ventricular aneurysms can be fatal. They are usually non-rupturing because they are lined by scar tissue.

Sternal clefts are rare congenital malformations that result from defective embryologic fusion of paired mesodermal bands in the ventral midline. They may be associated with other midline defects. It may also occur in isolation. Sternal cleft is treated by surgery in early life to avoid fixation leading to immobility.

The development of the digestive system in the human embryo concerns the epithelium of the digestive system and the parenchyma of its derivatives, which originate from the endoderm. Connective tissue, muscular components, and peritoneal components originate in the mesoderm. Different regions of the gut tube such as the esophagus, stomach, duodenum, etc. are specified by a retinoic acid gradient that causes transcription factors unique to each region to be expressed. Differentiation of the gut and its derivatives depends upon reciprocal interactions between the gut endoderm and its surrounding mesoderm. Hox genes in the mesoderm are induced by a Hedgehog signaling pathway secreted by gut endoderm and regulate the craniocaudal organization of the gut and its derivatives. The gut system extends from the oropharyngeal membrane to the cloacal membrane and is divided into the foregut, midgut, and hindgut.

References

  1. 1 2 3 4 Park, Myung K (2008). Park: Pediatric Cardiology for Practitioners. Mosby/Elsevier. p. 322. ISBN   978-0-323-04636-7.
  2. 1 2 3 Amato J, Douglas W, Desai U, Burke S (2000). "Ectopia cordis". Chest Surg Clin N Am. 10 (2): 297–316, vii. PMID   10803335.
  3. Sadler TW (2010). "The embryologic origin of ventral body wall defects". Semin Pediatr Surg. 19 (3): 209–14. doi:10.1053/j.sempedsurg.2010.03.006. PMID   20610194.
  4. 1 2 Bernstein, Daniel (2011). Kliegman: Nelson Textbook of Pediatrics. Elsevier. p. 1599. ISBN   978-1-4377-0755-7.
  5. "Ectopia Cordis". Children's Hospital Colorado.
  6. Walsh, Fergus (2017-12-13). "Baby has heart put back inside chest". BBC News.
  7. "Girl born with heart outside chest (4) - English". ANSA.it. 2020-05-27. Retrieved 2020-05-27.