Summary about Disease
Ectopia cordis is a rare congenital malformation in which the heart is located partially or completely outside the chest. It results from failure of the sternum to fuse or develop properly during embryonic development. The heart may be located in the neck (ectopia cordis cervicalis), chest (ectopia cordis thoracalis), or abdomen (ectopia cordis abdominis), or even outside the body entirely.
Symptoms
The primary symptom is the visible location of the heart outside the chest cavity. Other symptoms can vary depending on the severity and location of the ectopia cordis, and often include:
Visible pulsations of the heart
Associated congenital defects such as omphalocele (abdominal organs outside the body), cleft palate, or skeletal abnormalities.
Cyanosis (bluish discoloration of the skin due to low oxygen levels)
Respiratory distress
Increased susceptibility to infection
Causes
Ectopia cordis is caused by errors in the early development of the chest wall and heart during embryogenesis. The precise cause is unknown, but contributing factors may include:
Failure of the sternum to fuse properly.
Abnormal development of the diaphragm.
Genetic factors: although most cases are sporadic, some have been associated with chromosomal abnormalities or genetic syndromes.
Environmental factors: some studies suggest exposure to certain teratogens (substances that cause birth defects) during pregnancy may play a role.
Medicine Used
There is no specific medicine used to treat ectopia cordis. Treatment focuses on surgical repair of the defect and managing associated complications. Depending on the severity of the condition and associated abnormalities, various medications might be used to manage symptoms like heart failure, infections, or respiratory distress. These medications can include:
Diuretics: To manage fluid overload.
Antibiotics: To treat infections.
Inotropic agents: To support heart function.
Prostaglandins: To maintain patency of the ductus arteriosus in some cases.
Is Communicable
No, ectopia cordis is not communicable. It is a congenital birth defect, not an infectious disease.
Precautions
Since ectopia cordis is a congenital condition, there are no specific precautions that can be taken to prevent it after conception. However, the following prenatal precautions are generally recommended:
Avoidance of known teratogens during pregnancy, such as certain medications, alcohol, and illicit drugs.
Taking folic acid supplements before and during early pregnancy.
Managing pre-existing medical conditions, such as diabetes, effectively.
Genetic counseling may be beneficial for families with a history of congenital heart defects.
How long does an outbreak last?
Ectopia cordis is not an outbreak, it is a birth defect that is present from birth. The "duration" of the condition is lifelong unless surgically corrected.
How is it diagnosed?
Ectopia cordis can often be diagnosed prenatally through:
Prenatal ultrasound: This can detect the abnormal location of the heart outside the chest cavity.
Fetal echocardiography: This provides a detailed assessment of the heart's structure and function. After birth, diagnosis is made through:
Physical examination: The malposition of the heart is readily apparent.
Chest X-ray: Confirms the location of the heart.
Echocardiography: Evaluates the heart's structure and function and identifies associated cardiac defects.
CT Scan/MRI: May be used for more detailed imaging of the heart and surrounding structures.
Timeline of Symptoms
The condition is present at birth. Symptoms are immediately evident and include:
At birth: Visible location of the heart outside the chest.
Shortly after birth: Cyanosis, respiratory distress may develop depending on the severity and associated anomalies.
Important Considerations
Ectopia cordis is a very rare and serious condition with a high mortality rate.
Prompt diagnosis and multidisciplinary management are crucial.
Surgical repair is complex and often requires multiple procedures.
The prognosis depends on the severity of the condition, the presence of associated anomalies, and the success of surgical repair.
Ethical considerations regarding the feasibility and appropriateness of surgical intervention may arise.
Long-term follow-up is essential to monitor heart function and manage any complications.