Ectopia Cordis

Ectopia Cordis: Symptoms, Causes, Types, Diagnosis, and Treatments

Ectopia cordis is a rare and dramatic congenital malformation where the heart is abnormally located outside the thoracic cavity. This condition poses significant challenges in diagnosis, treatment, and survival. In this comprehensive article, we will explore ectopia cordis in detail—examining its symptoms, underlying causes, various types, methods of diagnosis, and available treatment options.

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What is Ectopia Cordis?

The term ectopia-cordis derives from Greek words: ektopos meaning “out of place” and kardia meaning “heart.” It is a congenital anomaly where the heart develops and remains partially or entirely outside the chest cavity. This displacement of the heart can involve different degrees and locations, making ectopia-cordis an exceptionally rare but critical condition.

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Symptoms of Ectopia Cordis

Symptoms of ectopia cordis are generally visible immediately after birth due to the abnormal position of the heart. However, the severity and presentation depend on the type and extent of displacement.

Visible Symptoms

• Heart outside the chest: The most obvious sign is the heart visibly protruding through a defect in the chest wall or abdominal region.
• Skin defect over the chest or abdomen: In many cases, there is an absence of skin and soft tissue covering the heart.
• Abnormal chest shape: The sternum (breastbone) may be partially or completely absent or split, causing visible deformity.
• Associated defects: There may be other congenital abnormalities like abdominal wall defects, diaphragmatic hernia, or facial malformations.

Clinical Symptoms

• Respiratory distress: Newborns may have difficulty breathing because the chest cavity and lungs might be underdeveloped.
• Cardiac symptoms: Irregular heartbeat (arrhythmias), heart murmurs, or compromised cardiac function.
• Cyanosis: Bluish discoloration of skin and mucous membranes due to inadequate oxygenation of blood.
• Shock or poor perfusion: Due to circulatory compromise caused by abnormal heart position and structure.

Associated Complications

• Infections: The exposed heart and tissues are vulnerable to infections.
• Heart failure: Abnormal heart development and function can lead to heart failure.
• Other congenital anomalies: Ectopia-cordis often coexists with other life-threatening defects like pentalogy of Cantrell (a syndrome involving defects of the heart, diaphragm, abdominal wall, pericardium, and sternum).

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Causes of Ectopia Cordis

Ectopia cordis results from abnormal embryological development during early pregnancy. The exact cause remains largely unknown, but several factors and theories have been proposed.

Embryological Basis

• Failure of midline fusion: During the third week of embryonic development, the ventral body wall forms by the fusion of bilateral mesodermal folds. Failure of this fusion results in a defect that allows the heart to develop outside the thoracic cavity.
• Abnormal folding of the embryo: Normally, the embryo folds ventrally, enclosing the heart within the chest. Improper folding leads to ectopia-cordis.

Genetic and Environmental Factors

• Genetic mutations: While no single gene has been definitively linked, chromosomal abnormalities may contribute to the defect.
• Teratogens: Exposure to harmful substances during early pregnancy, such as drugs, chemicals, or infections, could increase the risk.
• Maternal health: Poor maternal nutrition or health conditions may affect embryonic development.

Associated Syndromes and Conditions

• Pentalogy of Cantrell: A syndrome involving five defects including ectopia-cordis.
• Other congenital anomalies: Neural tube defects, abdominal wall defects, and limb abnormalities may be present.

Despite the rarity of ectopia-cordis, these factors suggest a multifactorial etiology involving both genetic and environmental components.

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Types of Ectopia Cordis

Ectopia cordis is classified based on the location of the heart outside the thoracic cavity. The five primary types are:

1. Cervical Ectopia Cordis

• The heart is located above the sternum in the neck region.
• This is the rarest form.
• The heart is partially or fully exposed in the cervical area.

2. Thoracic Ectopia Cordis

• The heart protrudes through the anterior chest wall.
• This is the most common form.
• The defect is usually in the lower sternum or upper chest area.

3. Thoracoabdominal Ectopia Cordis

• The heart is displaced through a defect involving both the chest and abdominal walls.
• It often coexists with defects of the diaphragm and abdominal wall.
• Frequently associated with pentalogy of Cantrell.

4. Abdominal Ectopia Cordis

• The heart is displaced entirely into the abdominal cavity or protrudes through an abdominal wall defect.
• This form is less common.

5. Intrathoracic Ectopia Cordis

• The heart is located within the thoracic cavity but outside the pericardium.
• This form is technically ectopia but the heart is not visibly outside the chest.

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Diagnosis of Ectopia Cordis

Early diagnosis is essential for planning management and improving outcomes. Diagnosis is often made prenatally or immediately after birth.

Prenatal Diagnosis

• Ultrasound: Routine prenatal ultrasound between 18 and 22 weeks of gestation can detect ectopia-cordis by visualizing the heart outside the chest wall.
• Fetal echocardiography: Provides detailed assessment of the heart’s anatomy and function.
• MRI (Magnetic Resonance Imaging): Fetal MRI can be used as an adjunct to ultrasound for better visualization of associated anomalies.

Postnatal Diagnosis

• Physical examination: The heart may be visibly outside the chest wall with obvious chest defects.
• Chest X-ray: Can confirm the abnormal position of the heart and assess associated skeletal defects.
• Echocardiogram: Crucial for evaluating cardiac structure, function, and associated defects.
• CT scan or MRI: May be used for detailed imaging of the thoracic structures and planning surgery.

Differential Diagnosis

• Cantrell pentalogy: Requires evaluation for abdominal wall defects.
• Omphalocele: Abdominal wall defect that may mimic abdominal ectopia-cordis.
• Congenital diaphragmatic hernia: May present with abnormal heart position.

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Treatments for Ectopia Cordis

Treatment of ectopia-cordis is challenging and requires a multidisciplinary approach involving neonatologists, cardiothoracic surgeons, and intensive care specialists.

Immediate Postnatal Care

• Protecting the heart: The exposed heart must be covered with sterile, moist dressings to prevent infection and drying.
• Stabilizing the infant: Supportive care includes maintaining body temperature, respiratory support, and careful monitoring of cardiovascular status.

Surgical Management

The definitive treatment is surgical repair, which varies based on the type and severity of ectopia cordis.

Goals of Surgery

• Reposition the heart inside the thoracic cavity.
• Repair chest wall defects.
• Correct any associated cardiac malformations.
• Provide adequate protection to the heart and surrounding structures.

Surgical Approaches

• Primary repair: If feasible, the heart is repositioned immediately after birth, and the chest wall defect is closed.
• Staged repair: In severe cases, a multi-stage surgical approach is used to gradually close the defect and reposition the heart.
• Use of prosthetic materials: Sometimes synthetic patches or grafts are needed to reconstruct the chest wall.
• Correction of intracardiac anomalies: If present, these are repaired during the surgery or in a staged manner.

Challenges in Surgery

• Limited space in the thoracic cavity due to hypoplastic lungs or chest.
• Fragility of the exposed heart and associated tissues.
• Risk of infection and bleeding.
• Postoperative respiratory and cardiac complications.

Postoperative Care and Prognosis

• Intensive care monitoring in a neonatal intensive care unit (NICU).
• Use of ventilatory support, inotropes, and antibiotics as needed.
• Long-term follow-up for cardiac function, respiratory health, and development.

Survival Rates and Prognosis

• Ectopia cordis is associated with a high mortality rate, often exceeding 90%, primarily due to associated anomalies and difficulties in management.
• Early diagnosis, advances in neonatal intensive care, and surgical techniques have improved survival in select cases.
• Prognosis depends heavily on the type of ectopia cordis, associated anomalies, and timing of intervention.

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Conclusion

Ectopia cordis is an extraordinary and life-threatening congenital defect characterized by the heart’s abnormal position outside the thoracic cavity. Though extremely rare, understanding its symptoms, causes, classification, diagnostic techniques, and treatment options is crucial for healthcare providers and families affected by this condition.

Early prenatal detection allows for better planning and counseling. While surgical intervention offers the only hope for survival, the complexity of ectopia cordis demands expert multidisciplinary care. Ongoing research and improvements in fetal surgery and neonatal care hold promise for enhancing outcomes in the future.

Frequently Asked Questions (FAQs) About Ectopia Cordis

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