Congenital Pulmonary Venous Connection Anomaly
What is Congenital Pulmonary Venous Connection Anomaly?
Congenital Pulmonary Venous Connection Anomaly (CPVCA) is a group of rare congenital heart defects where the pulmonary veins, which normally return oxygenated blood from the lungs to the left atrium of the heart, connect abnormally to other parts of the circulatory system. These veins may drain into the right atrium, inferior vena cava, or other systemic veins rather than the left atrium, disrupting normal blood circulation and oxygenation. CPVCA can be present at birth, but symptoms may be subtle or appear later in life, depending on severity. The anomaly can manifest in various anatomical configurations, ranging from partial to complete abnormal connections, each presenting unique challenges in diagnosis, management, and potential intervention.
Synonyms
- Pulmonary Venous Malposition
- Anomalous Pulmonary Venous Return
- Abnormal Pulmonary Venous Drainage
- Partial Anomalous Pulmonary Venous Return
- Total Anomalous Pulmonary Venous Return
Congenital Pulmonary Venous Connection Anomaly (CPVCA) is a group of rare congenital heart defects where the pulmonary veins, which normally return oxygenated blood from the lungs to the left atrium of the heart, connect abnormally to other parts of the circulatory system. These veins may drain into the right atrium, inferior vena cava, or other systemic veins rather than the left atrium, disrupting normal blood circulation and oxygenation. CPVCA can be present at birth, but symptoms may be subtle or appear later in life, depending on severity. The anomaly can manifest in various anatomical configurations, ranging from partial to complete abnormal connections, each presenting unique challenges in diagnosis, management, and potential intervention.
CPVCA is a rare condition, with an incidence estimated between 1 in 15,000 and 1 in 30,000 live births. It is most often detected in early infancy but may remain undiagnosed until later childhood or adulthood if the symptoms are less pronounced.
| Name | Abbreviation |
|---|---|
| Pulmonary Venous Malposition | |
| Anomalous Pulmonary Venous Return | APVR |
| Abnormal Pulmonary Venous Drainage | |
| Partial Anomalous Pulmonary Venous Return | PAPVR |
| Total Anomalous Pulmonary Venous Return | TAPVR |
The exact cause of CPVCA is not fully understood but is believed to result from disruptions of the precisely coordinated cellular and molecular events that determine formation of pulmonary venous connections. The condition is not typically inherited in a Mendelian fashion and environmental influences such as maternal infections and exposure to teratogens (substances such as chemicals, drugs or toxins that interfere with fetal development) during pregnancy may potentially play a role.
Symptoms of CPVCA can vary significantly depending on the type and severity of the anomaly. Common symptoms include:
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Cyanosis (bluish skin, lips, or nails due to insufficient oxygen in the blood)
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Tachypnea (rapid breathing)
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Respiratory distress
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Heart murmurs
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Recurrent respiratory infections
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Failure to thrive in infants
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Pulmonary hypertension (in severe cases)
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Fatigue and exercise intolerance
Some individuals may experience mild or no symptoms until later in childhood or adulthood, while others, particularly those with complete anomalies, may show severe symptoms soon after birth.
Diagnosing CPVCA typically involves a combination of clinical evaluation and advanced imaging techniques:
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Echocardiogram: The first-line imaging tool to assess the structure of the heart and visualize abnormal venous connections.
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CT or MRI Angiography: These imaging techniques provide detailed views of the heart and pulmonary vessels, helping to confirm the location of the anomalous connections.
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Cardiac Catheterization: In some cases, a catheter is used to gather information on blood flow and pressures within the heart and vessels.
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Chest X-ray: In severe cases, chest X-rays may show signs of congested lungs or an enlarged heart.
In some cases, genetic testing may also be done to identify potential syndromic associations.
The primary treatment for CPVCA is surgical intervention, which aims to restore normal pulmonary venous drainage. Treatment strategies are highly individualized, tailored to a patient’s specific anatomical configuration and clinical presentation. Surgical options include:
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Anastomosis or Redirection: Surgical rerouting of the pulmonary veins to the left atrium.
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Pulmonary Artery Banding or Dilatation: These procedures may be employed to manage pulmonary hypertension in some cases.
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Cardiac Supportive Care: Oxygen therapy, diuretics, and medications to manage heart failure may be used for symptomatic relief prior to surgery.
In milder cases, surgery may not be immediately required, but close monitoring and management of symptoms are essential.
Monitoring:
Long-term monitoring is critical for individuals with CPVCA, especially after surgical correction. Key aspects of monitoring include:
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Cardiac Imaging: Regular echocardiograms or MRI scans to assess the function of the heart and check for any recurrence or complications related to venous connections.
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Pulmonary Function Tests: To monitor for any lasting effects on lung function, especially in patients with residual symptoms.
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Follow-up for Pulmonary Hypertension: Individuals may require ongoing evaluation for secondary pulmonary hypertension, a potential complication if the condition was not addressed early.
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General Health Monitoring: Continuous surveillance of growth, development, and overall health, particularly in children, to manage recurrent infections or other complications.
The prognosis for individuals with CPVCA largely depends on the timing of diagnosis, the type of anomaly, and the success of surgical correction. Early diagnosis and timely intervention can significantly improve outcomes, with many patients leading relatively normal lives post-surgery. However, some individuals may experience ongoing challenges, such as pulmonary hypertension or arrhythmias, requiring lifelong monitoring and management. With advancements in pediatric cardiac surgery and imaging, the long-term outlook for CPVCA has improved, although some patients may still experience limitations in physical activity or require continued medical support.
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Verma, A. K., Sethi, S., Kohli, N. (2022). Partial anomalous pulmonary venous connection: state-of-the-art review with assessment using a multidetector computed tomography angiography. Polish Journal of Radiology, 87, 549-556. https://doi.org/10.5114/pjr.2022.120513.
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Genetic and Rare Disease Information Center (GARD): Congenital pulmonary venous return anomaly.
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American Heart Association: Total anomalous pulmonary connection.
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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