Congenital tracheomalacia occurs in approximately one per 2,100 children.

Congenital tracheomalacia occurs due to the abnormal or incomplete development of trachea before birth. It may be caused by premature birth or by unknown causes in otherwise healthy infants. Tracheomalacia may affect the entire length of the trachea or just a segment. Since the cartilage of the trachea is too weak to support it, airway obstruction might occur. Extreme forms of breathing such as coughing and crying might worsen the obstruction.

The severity and onset of symptoms depend on the extent and location of narrowing. If a larger segment of the trachea is affected, the symptoms tend to present earlier. Symptoms include a high-pitched, wheezing sound during breathing (stridor), shortness of breath, difficulty breathing(dyspnea), temporary interruptions in breathing during sleep (apnea), episodic bluish appearance of skin (cyanotic spells), and frequent airway infections. Due to the softness of trachea, affected individuals may not be able to cough effectively which contributes to the high frequency of airway infections. Breathing problems tend to get worse during periods of activity or as the affected infant coughs, cries, or feeds.

Diagnosis is made based on history, physical examination, and laboratory techniques. There are no standard criteria for the diagnosis of Tracheomalacia. However, bronchoscopy is the most commonly used technique. The goal of laboratory tests is to determine the collapsibility of the trachea and whether the trachea has been obstructed. Other tests that may also aid in diagnosis include pulmonary function testing and fluoroscopy.

Bronchoscopy is the most common test for the diagnosis of tracheomalacia. A bronchoscope is a thin tube with a light and a small camera on its tip. During this procedure, the bronchoscope is inserted through the nose or the mouse and is passed through the airways. As the bronchoscope advances in the airways, camera recordings of the inside of the airways can be displayed. This procedure allows for the visualization of the inside of the trachea to look for potential narrowings that indicate tracheomalacia.

Depending on the severity of symptoms, the treatment of congenital tracheomalacia ranges from medications to surgical interventions. Congenital tracheomalacia often resolves within the first one to two years of life without any intervention. However, the affected infant should be monitored and can benefit from humidified air and chest physical therapy. Another treatment that might benefit individuals affected by tracheomalacia is called continuous positive airway pressure. A machine pumps continuous flow of air under pressure into the airway. This keeps the airway open and improves breathing.

 For individuals with symptoms of airway obstruction, medication may be used to increase the basal contraction of the trachealis muscle. Trachealis is a thick band of muscle that extends along the back of the trachea. Contraction of this muscle increases the rigidity of trachea and reduced its collapsibility. 

In cases with recurrent infections, the appearance of bluish skin, and noisy breathing despite medical treatment, surgery might be required. The most common surgical intervention in the treatment of tracheomalacia is aortopexy. Aorta is the largest vessel in the body that is in part located adjacent to the trachea. During aortopexy, the aorta is surgically moved and fixed to the breastbone (sternum) in order to open up more space in the trachea.

Generally, the symptoms in affected infants with no other malformations tend to resolve within two years. Children with associated problems may experience symptoms for a longer time. 

Genetic and Rare Disease Information Center. Congenital tracheomalacia. 2017. Available from https://rarediseases.info.nih.gov/diseases/10515/congenital-tracheomalacia

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