Overview
Congenital pulmonary airway malformation type 4 (CPAM type 4), also known as type 4 congenital cystic adenomatoid malformation (CCAM type 4), is a very rare lung condition that is present at birth. It is one of several types of CPAM, which are abnormal growths of tissue in the lungs that form during fetal development. In type 4, the malformation consists of large cysts (fluid- or air-filled sacs) that arise from the outermost part of the lung tissue, called the distal acinus or alveolar region. These cysts are typically lined by flat cells and can be quite large, sometimes occupying a significant portion of the lung. Babies with CPAM type 4 may have breathing difficulties at birth or in early infancy, including rapid breathing, respiratory distress, or recurrent lung infections. In some cases, the malformation is detected before birth on a prenatal ultrasound. One important concern with type 4 specifically is that it can be difficult to distinguish from a rare childhood lung cancer called pleuropulmonary blastoma (PPB), which can look very similar on imaging and even under the microscope. Because of this overlap, careful evaluation and often surgical removal of the affected lung tissue is recommended. The primary treatment for CPAM type 4 is surgical removal (resection) of the abnormal lung tissue. This is usually done in infancy or early childhood. The surgery is generally well tolerated, and most children do well afterward, with the remaining healthy lung tissue compensating for the removed portion. Long-term follow-up is important to monitor for any complications or recurrence.
Also known as:
Key symptoms:
Breathing difficulty at birth or in early infancyRapid breathing (tachypnea)Respiratory distress in newbornsRecurrent lung infections or pneumoniaCoughingLow oxygen levelsChest tightness or discomfortBluish skin color (cyanosis) in severe casesFeeding difficulties due to breathing problemsAbnormal lung findings on prenatal ultrasoundTension pneumothorax (air leak around the lung) in some cases
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital pulmonary airway malformation type 4.
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Specialists
View all specialists →No specialists are currently listed for Congenital pulmonary airway malformation type 4.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital pulmonary airway malformation type 4.
Community
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Caregiver Resources
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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.How can you tell if this is a benign CPAM type 4 or a pleuropulmonary blastoma?,Should my child be tested for DICER1 gene mutations?,When is the best time to perform surgery, and what type of surgery is recommended?,What are the risks of surgery, and how much lung tissue will need to be removed?,What kind of long-term follow-up will my child need after surgery?,Will my child have normal lung function after the affected part of the lung is removed?,Are there any implications for future pregnancies or for other family members?
Common questions about Congenital pulmonary airway malformation type 4
What is Congenital pulmonary airway malformation type 4?
Congenital pulmonary airway malformation type 4 (CPAM type 4), also known as type 4 congenital cystic adenomatoid malformation (CCAM type 4), is a very rare lung condition that is present at birth. It is one of several types of CPAM, which are abnormal growths of tissue in the lungs that form during fetal development. In type 4, the malformation consists of large cysts (fluid- or air-filled sacs) that arise from the outermost part of the lung tissue, called the distal acinus or alveolar region. These cysts are typically lined by flat cells and can be quite large, sometimes occupying a signific
How is Congenital pulmonary airway malformation type 4 inherited?
Congenital pulmonary airway malformation type 4 follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital pulmonary airway malformation type 4 typically begin?
Typical onset of Congenital pulmonary airway malformation type 4 is neonatal. Age of onset can vary across affected individuals.