Asplenia with cardiovascular anomalies
Asplenia with cardiovascular anomalies is a rare medical condition characterized by the absence of a spleen (asplenia) in conjunction with various cardiovascular defects. This condition is often associated with a group of birth defects known as heterotaxy syndrome.
Overview[edit | edit source]
Asplenia refers to the absence of normal spleen function and is associated with some serious health risks. The spleen plays a multifaceted role in the body, including the filtration of blood and the production of antibodies and lymphocytes. Without a functioning spleen, the body is more susceptible to infections.
In addition to asplenia, individuals with this condition also have cardiovascular anomalies. These can range from minor defects that cause no symptoms to severe malformations that require immediate medical intervention. Common cardiovascular anomalies associated with this condition include congenital heart defects, dextrocardia (heart located on the right side of the chest), and double outlet right ventricle (both the aorta and pulmonary artery are connected to the right ventricle).
Symptoms[edit | edit source]
The symptoms of asplenia with cardiovascular anomalies can vary greatly depending on the specific cardiovascular defects present. Some individuals may have no symptoms, while others may experience cyanosis (bluish coloration of the skin due to lack of oxygen), fatigue, shortness of breath, and an increased susceptibility to infections.
Diagnosis[edit | edit source]
Diagnosis of asplenia with cardiovascular anomalies typically involves a combination of physical examination, medical history, and imaging tests. Echocardiography is often used to identify the specific cardiovascular anomalies. Blood tests may also be used to confirm the absence of spleen function.
Treatment[edit | edit source]
Treatment for asplenia with cardiovascular anomalies is focused on managing the individual's symptoms and preventing complications. This may involve surgeries to correct the cardiovascular defects, antibiotics to prevent infections, and vaccinations to boost the immune system.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Asplenia with cardiovascular anomalies is a rare disease.
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Contributors: Prab R. Tumpati, MD
