congenital pulmonary airway malformation type 2

Congenital pulmonary airway malformation type 2, also known as CPAM type 2 or CCAM type 2, is a developmental condition affecting the lungs that results in abnormal, cystic lung tissue formation. It is most often identified during prenatal screenings or shortly after birth through imaging studies. The prevalence of this condition is not well established, and cases can range from incidental findings to those associated with respiratory issues. The underlying factors remain unclear, and current evidence does not point to a specific genetic cause.

The clinical presentation of CPAM type 2 can vary considerably. In some cases, abnormal lung lesions are detected during prenatal ultrasounds without causing significant respiratory distress immediately after birth. In other instances, affected individuals may experience breathing difficulties or recurrent lung infections as they grow. Not all individuals experience all features, and severity varies considerably, which means that the condition may remain asymptomatic in some cases while others require intervention.

The precise genetic basis of congenital pulmonary airway malformation type 2 is under investigation. Current understanding suggests that the condition results from developmental abnormalities during lung formation rather than a clearly defined inherited genetic mutation. Most cases appear to be sporadic, and no clear pattern of inheritance has been established. Families are encouraged to seek genetic counseling to discuss any concerns and to better understand potential recurrence risks in future pregnancies.

Currently, management focuses on supportive care and symptom management since there are no specific treatments approved for CPAM type 2. In cases where respiratory distress or recurrent infections occur, surgical resection of the affected lung tissue may be considered. Treatment is tailored to the individual and typically involves a multidisciplinary team, including pediatric pulmonologists and surgeons, to monitor the condition over time. Patients should discuss treatment options with their healthcare team to determine which interventions may be most appropriate for their situation.

The outlook for individuals with congenital pulmonary airway malformation type 2 varies depending on the severity of the malformation and the presence of associated symptoms. With current standards of care, many individuals experience stable outcomes, and while some may require intervention during infancy, others remain asymptomatic. Outcomes described in medical literature continue to evolve as standards of care improve, and the clinical course is highly variable. Families often find it helpful to connect with specialists familiar with this condition and to consider genetic counseling to discuss recurrence risks and family planning.