Congenital tracheomalacia

Other Names: Tracheomalacia, congenital; Type 1 tracheomalacia; Congenital major airway collapse Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open. The trachea can collapse when breathing out. Tracheomalacia can occur on its own or along with other airway problems. It can also occur with congenital abnormalities that affect other parts of the body.

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Cause

Tracheomalacia in a newborn occurs when the cartilage in the windpipe has not developed properly. Instead of being rigid, the walls of the trachea are floppy. Because the windpipe is the main airway, breathing problems begin soon after birth. Congenital tracheomalacia is very uncommon.

Signs and symptoms

Symptoms can range from mild to severe. Symptoms may include:

• Breathing noises that may change with position and improve during sleep
• Breathing problems that get worse with coughing, crying, feeding, or upper respiratory infections (such as cold)
• High-pitched breathing
• Rattling or noisy breaths

Diagnosis

A physical exam confirms the symptoms. A chest x-ray will be done to rule out other problems. The x-ray may show narrowing of the trachea when breathing in.

A procedure called laryngoscopy provides the most reliable diagnosis. In this procedure, an otolaryngologist (ear, nose, and throat doctor, or ENT) will look at the structure of the airway and determine how severe the problem is. Other tests may include:

• Airway fluoroscopy -- a kind of x-ray that shows the images on a screen
• Barium swallow
• Bronchoscopy -- camera down the throat to see the airways and lungs
• CT scan
• Lung function tests
• Magnetic resonance imaging (MRI)

Treatment

Most infants respond well to humidified air, careful feedings, and antibiotics for infections. Babies with tracheomalacia must be closely monitored when they have respiratory infections. Often, the symptoms of tracheomalacia improve as the infant grows. Rarely, surgery is needed

Prognosis

The long-term outlook of congenital tracheomalacia is good in children with no associated problems. These children tend to improve by age 2.Children who have tracheomalacia in combination with other malformations tend to have symptoms that last into later childhood. Studies suggest that some people with tracheomalacia have exercise intolerance as adults.

Possible serious complications of tracheomalacia include complete airway blockage, repeat infection, respiratory failure, and failure to thrive. Treatments to prevent these complications include positive pressure ventilatory support (cPAP) or surgery (e.g., aortopexy, tracheopexy, tracheal stent). Surgery is reserved for treatment of very serious cases.

NIH genetic and rare disease info

• NIH info on Congenital tracheomalacia

Congenital tracheomalacia is a rare disease.