Extralobar congenital pulmonary sequestration

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Overview

Extralobar congenital pulmonary sequestration (also called extralobar pulmonary sequestration or extralobar sequestration) is a rare birth defect of the lungs. In this condition, a mass of abnormal lung tissue develops outside the normal lung, usually near the base of the left lung. This extra piece of lung tissue is enclosed in its own membrane (called pleura) and does not connect to the normal airways. Instead of receiving blood from the pulmonary arteries like normal lung tissue, it gets its blood supply from an abnormal artery that comes directly from the aorta or another systemic artery. This condition is typically discovered before birth on prenatal ultrasound or shortly after birth. Some babies may have breathing difficulties, repeated lung infections, or feeding problems. In other cases, the sequestration may not cause symptoms right away and is found incidentally on imaging done for other reasons. About 60% of extralobar sequestrations are associated with other birth defects, including congenital diaphragmatic hernia, heart defects, and other lung abnormalities. The main treatment is surgical removal of the abnormal lung tissue. Surgery is generally very successful, and most children do well after the procedure. In some cases where the sequestration is small and not causing symptoms, doctors may recommend careful monitoring. Advances in minimally invasive surgery have made the procedure safer and recovery faster for many patients.

Also known as:

Key symptoms:

Breathing difficulty in newbornsRepeated lung infections or pneumoniaCoughingFeeding difficulties in infantsBluish skin color from low oxygenAbnormal mass seen on chest imagingFluid buildup around the lungs (pleural effusion)Heart failure in severe cases due to abnormal blood flowFailure to thrive or poor weight gainNo symptoms at all in some cases (found incidentally)

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Extralobar congenital pulmonary sequestration.

View clinical trials →

No actively recruiting trials found for Extralobar congenital pulmonary sequestration at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Extralobar congenital pulmonary sequestration community →

No specialists are currently listed for Extralobar congenital pulmonary sequestration.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Extralobar congenital pulmonary sequestration.

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Community

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Latest news about Extralobar congenital pulmonary sequestration

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's sequestration causing any symptoms or complications right now?,Are there any other birth defects associated with the sequestration that we should check for?,When is the best time to have surgery, and can it be done with minimally invasive techniques?,What are the risks of surgery, and what is the expected recovery time?,What happens if we choose to wait and monitor instead of having surgery right away?,Will my child have normal lung function after the sequestration is removed?,Is there any chance this condition could affect future pregnancies?

Common questions about Extralobar congenital pulmonary sequestration

What is Extralobar congenital pulmonary sequestration?

Extralobar congenital pulmonary sequestration (also called extralobar pulmonary sequestration or extralobar sequestration) is a rare birth defect of the lungs. In this condition, a mass of abnormal lung tissue develops outside the normal lung, usually near the base of the left lung. This extra piece of lung tissue is enclosed in its own membrane (called pleura) and does not connect to the normal airways. Instead of receiving blood from the pulmonary arteries like normal lung tissue, it gets its blood supply from an abnormal artery that comes directly from the aorta or another systemic artery.

How is Extralobar congenital pulmonary sequestration inherited?

Extralobar congenital pulmonary sequestration follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Extralobar congenital pulmonary sequestration typically begin?

Typical onset of Extralobar congenital pulmonary sequestration is neonatal. Age of onset can vary across affected individuals.