Congenital tracheomalacia is most often diagnosed in infants with other congenital anomalies (eg, cardiovascular, gastroesophageal) or developmental delay. Weakness causes the tracheal wall to collapse when the infant exhales, cries, or coughs. Infants present with noisy breathing, wheezing, and stridor. Congenital tracheomalacia is often self-limited, resolving without treatment by the age of 2 years.
Acquired segmental tracheomalacia may be due to endotracheal intubation, tracheostomy, chest trauma, lung transplant, emphysema, and external tracheal compression from cysts, tumors, and abscesses. Patients with recurring or prolonged intubation are at greater risk. Common signs and symptoms are cough, dyspnea, phlegm retention, wheezing, and stridor. Symptoms are exacerbated by asthma, emphysema, bronchitis, and smoking.
Mounier-Kuhn syndrome (idiopathic giant trachea) is an uncommon congenital type typically presenting in young adults. Patients manifest breathing difficulties, chronic cough, dyspnea, hemoptysis, difficult airway secretion clearance, and recurring bronchopulmonary infections. Wheezing, crackles, and finger clubbing are noted.
J39.8 – Other specified diseases of upper respiratory tract
95434006 – Tracheomalacia
Differential Diagnosis & Pitfalls