Congenital Lung Malformation


Congenital means ‘present from birth’ and there are a number of common and complex lung malformations and abnormalities that fit into this category. Congenital lobar emphysema and cysts are two of the most common conditions in this category, while pulmonary sequestration and hypoplasia are examples of much rarer disorders.

Some congenital lung malformations don’t present any symptoms or improve over time, while others require surgery or ongoing treatment. They will almost always be diagnosed during pregnancy or in early infancy.

Causes

Congenital lobar emphysema is characterised by an over inflation of one or more of the pulmonary lobes, caused by an obstruction of the airway leading to that lobe. If the blockage occurs in a smaller airway the patient may display no symptoms, in larger airways the blocked lobe can expand and squash the normal lung tissue, causing breathing difficulties.

Pulmonary cysts are masses of abnormal but non-cancerous lung tissue that can occur on the lobes, around the upper section of the breast bone or in the hollow between the collar bones.

Pulmonary sequestration is a rare malformation in which one of the lungs’ lobes is isolated (sequestered) from the blood supply and from the airways.

Pulmonary hypoplasia is the medical term for reduced lung development. This rare condition sees the failure of an entire lung to develop fully during gestation.

Symptoms

Congenital lobar emphysema: If the blockage occurs in a smaller airway the patient may display no symptoms, in larger airways the blocked lobe can expand and squash the normal lung tissue, causing breathing difficulties. Wheezing, shortness of breath and nail beds with a blue tinge are common symptoms.

Cysts: Symptoms depend on the size and number of cysts, which varies from person to person, but most commonly include breathing difficulties and repeated chest infections.

Pulmonary sequestration can cause repeat chest infections due to the build-up of phlegm.

Pulmonary hypoplasia can cause surprisingly few symptoms in some people, depending on the extent of the underdevelopment. In more serious cases, people experience breathing difficulties and repeated chest infections and in children it can affect feeding and cardiac function.

Diagnosis

Congenital lung malformations will almost always be diagnosed in pregnancy during routine or requested ultrasound scans, or in early infancy. Specialists will assess the quality of breathing and order chest x-rays as required. If symptoms worsen or start to occur more frequently, further tests may be required.

Treatment

People with congenital lobar emphysema or pulmonary cysts may not need any treatment, while others may need surgery to remove the affected lobe (lobectomy). This depends on the severity of the condition, and, in the case of cysts, on the size and number present.

In patients with pulmonary sequestration, surgery to remove the isolated lobe is usually required, this will depend on the impact of the malformation on the patient.

Babies with pulmonary hypoplasia will often need respiratory support immediately after birth. Long term treatment can include nutritional advice, physiotherapy to strengthen the respiratory system and ongoing evaluation of neurodevelopmental growth that can be impaired due to a lack of oxygen.