Evaluating tracheomalacia: Preventing misdiagnosis

doctor diagnosing tracheomalacia

The patient is back in your office with another bout of recurrent pneumonia — the third time this year. At 7 years old, he can’t wait to join his school’s soccer team, but his parents report that he gets winded easily. Does he have asthma? Or could his symptoms indicate another problem with his airway?

Symptoms such as noisy breathing, a barking cough, and frequent respiratory infections can signal tracheomalacia (also known as tracheobronchomalacia), says Russell Jennings, MD, surgical director for the Esophageal and Airway Treatment Center at Boston Children’s Hospital. In this condition, the airway narrows or collapses when a child breathes, leading to symptoms such as noisy breathing, a barking cough, recurrent pneumonia and cyanosis.

A common misdiagnosis

Contrary to popular belief, most children don’t grow out of tracheomalacia. “Most physicians were taught that kids will grow out of tracheomalacia by age 2, so parents shouldn’t worry about it,” Jennings explains. “That’s a misconception.” Because of this myth, clinicians may assume that older children have atypical asthma or recurrent pneumonia or croup, when tracheomalacia is actually to blame.

Indeed, most cases of congenital tracheomalacia are due to physical malformations in the cartilage: Rather being shaped like the letter “C,” the cartilaginous rings that support the trachea are shaped like the letter “D” or even a bow. This causes the membrane at the back of the airway to interfere with breathing and restrict airflow — and can’t be fixed without surgical intervention.

The gold standard for evaluation

So, what should clinicians do if they suspect a child has tracheomalacia? Jennings recommends a thorough workup that includes the gold standard for diagnosis, a three-phase dynamic bronchoscopy. This test uses a bronchoscope to view the patient’s airway in three different situations: during shallow breathing, during vigorous coughing and when the airways have been distended.

Although many physicians only perform the first phase of this test, all three phases are crucial for understanding the specifics of a child’s unique situation, says Jennings. A dynamic airway CT scan may also be useful: While this test can’t diagnose or rule out tracheomalacia, it can help identify the causes of tracheal and bronchial compression that trigger symptoms.

Based on the findings and the severity of the patient’s symptoms, approaches such as humidified air, chest physical therapy and perhaps a continuous positive airway pressure (CPAP) device and a pulmonary clearance regimen supervised by a pulmonologist may be warranted. For more severe tracheomalacia, consider referring patients to an airway specialist for customized surgical treatment.

Learn about the Esophageal and Airway Treatment Center.