NORD gratefully acknowledges Greg Cichon, MD candidate, Creighton School of Medicine and Rudy Lackner, MD, Chief of Thoracic Surgery, University of Nebraska Medical Center, for the preparation of this report.
Summary
Congenital tracheomalacia is a rare childhood form of tracheomalacia in which the cartilage around the windpipe (trachea) is weak at birth. As the infant breathes out, the trachea collapses making it difficult to breathe. Symptoms range from mild to severe shortness of breath (particularly during exercise and eating), loud breathing (stridor), bluish skin (cyanosis) and recurrent airway infections. Tracheomalacia is associated with many childhood syndromes (i.e. Ehlers Danlos syndrome, bronchopulmonary dysplasia) and congenital diseases (i.e. tracheoesophageal fistula, double aortic arch) that weaken or compress the trachea. A weakened or compressed airway may occur by itself or alongside other airway abnormalities.
Children will have a harder time clearing mucus as the trachea collapses, which can lead to recurrent infections and difficulty breathing. If the trachea narrows >50% when exhaling, more symptoms will likely be present. These symptoms often resolve by themselves before the child turns 2 years old and can be managed by a team of clinicians. Treatment usually includes physical therapy, continuous positive pressure ventilation (CPAP) and monitoring for respiratory infections. More severe cases may need surgery to hold open the airway or relieve anything compressing it. Case severity may vary widely, but prognosis has continually improved with supportive measures.
Many patients with congenital tracheomalacia do not have symptoms. The most common symptoms include:
Congenital tracheomalacia can be associated with:
The prevalence of congenital tracheomalacia is roughly estimated to be around 1 in 2,100 livebirths. It is often associated with certain genetic conditions or structural birth defects (see Causes).
Congenital tracheomalacia is diagnosed by bronchoscopy to visualize the airway collapsing as the patient breathes. The patient is awake but numbed so they can take deep breaths during the procedure. Additional imaging may include a CT scan, a chest x-ray and/or an MRI to determine if a blood vessel is compressing the airway.
Clinical Testing and Work-up
Many cases of congenital tracheomalacia are found incidentally if the symptoms are mild or absent. The clinician will take a thorough history from the patient and a respiratory physical exam. They may then order pulmonary function tests to indicate the degree that the patient’s breathing is affected. These tests are important to rule out other conditions such as asthma, a foreign body and pneumonia. The clinician will likely order imaging tests such as a CT scan, chest x-ray and/or MRI of the chest. A diagnosis is made by inserting a small camera into the airway (bronchoscopy) and seeing the weak trachea collapse as the patient breathes deeply.
Since many cases of congenital tracheomalacia resolve before two years of age, the objective is to manage any symptoms by a multidisciplinary team of professionals. These therapies may include:
Standard Therapies
Treatment
Only severe cases which do not resolve on their own will need surgical treatment. A team of specialists including interventional pulmonologists, respiratory therapists, radiologists and surgeons work together to care for patients. Age and other conditions that the patient has are factored in as the treatment team considers advanced treatment. In some patients, treating the underlying condition improves the symptoms of congenital tracheomalacia. Depending on severity, treatment options for congenital tracheomalacia may include:
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