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At a glance

It is a Congenital Cystic Bronchiectasis Syndrome caused by a defect of cartilage of the first and second generation bronchi leading to complete collapse of the lungs during expiration. The clinical feature is the presence of severe bronchomalacia. Respiratory symptoms can be severe and can be life-threatening. The differential diagnosis of congenital or acquired cystic bronchiectasis includes cystic fibrosis, ciliary dyskinesia, α1-antitripsin deficiency, immunoglobulin deficiency, autoimmune disease, and allergic bronchopulmonary aspergillosis. Also, see “Other conditions to be considered.”

Synonym

Bronchomalacia.

History

It was first described by Howard Williams and Peter Campbell in 1960. Both were physicians in the Departments of Clinical Research and Pathology, Royal Children’s Hospital, Melbourne, Australia.

Incidence

The exact frequency remains unknown. Due to the rarity of the disease and because of the lack of specificity of this disorder at the time of presentation, it is often misdiagnosed for other congenital bronchiectasis conditions.

Genetic inheritance

It is unknown.

Pathophysiology

Characterized by the absence or markedly diminished cartilage around the bronchi. The exact pathophysiology is still unknown.

Diagnosis

Diagnosis requires an appropriate clinical history that is often difficult to establish and often mistaken for other conditions, such as cold. The characteristic expiratory airway collapse on radiological investigation helps establish the diagnosis. Computed tomography (CT) scan and pulmonary endoscopy are often used to confirm the diagnosis. Finally, the exclusion of other causes of congenital and acquired bronchiectasis is essential.

Clinical aspects

Chronic respiratory distress in early infancy as a result of bronchial flaccidity. First- and second-generation bronchi almost collapse during expiration. Air trapping and respiratory distress simulate bronchial asthma. The association with an increased frequency of pulmonary infections is important. Due to the rarity of the disease, the 2006 International Society for Heart and Lung Transplantation recommendations do not provide any specific guidelines about lung transplantation in this condition. However, pneumologists generally follow the guidelines used for cystic fibrosis patients. As per these recommendations, the transplant window can be established when FEV1 reaches 30% of predicted or with rapid deterioration of FEV1, with increasing frequency of exacerbations or an intensive care unit (ICU) stay, refractory/recurrent pneumothorax and hemoptysis not controlled by embolization.

Precautions before anesthesia

Evaluate respiratory status (clinical, CT scan, pulmonary function test, arterial blood gas, bacteriological examination). Evaluate airway dynamic (awake fiberoptic evaluation) and the potential for difficult direct laryngoscopy and tracheal intubation.

Anesthetic considerations

Patients with structural abnormalities of the tracheobronchial tree can be at increased risk for complications when undergoing surgical procedures that impact airway dynamics. Spontaneous ventilation should be preferred when possible; for example, with regional anesthesia. Perioperative ...

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