Respiratory Tract Malformations - Causes, Symptoms, Diagnosis, and Treatment

Introduction

Respiratory tract malformations are rare but are considered to be fatal health complications that are usually seen during the first year of life. However, some of the cases can be detected through fetal sonography or doppler studies during the intrauterine life of the fetus. These can be very useful in diagnosing and managing complications more efficiently and on time. Moreover, it is significantly seen that children with respiratory tract malformation have to take support of artificial ventilation, which might affect and compromise their airway function later.

What Are the Types of Respiratory Tract Malformation?

A more common congenital pulmonary airway malformation is congenital cystic adenoid malformation (CCAM). Some of the other types of respiratory tract malformations are mentioned below.

• Pulmonary sequestration.

• Congenital lobar emphysema is infantile lobar hyperinflation.

• Arteriovenous malformation in the lungs.

• Bronchogenic cysts or different cyst types.

• Congenitally small lungs.

• Agenesis of the lung (when the lung is absent).

• Bronchial atresia (when the bronchus is absent).

What Are the Symptoms of Respiratory Tract Malformation?

The symptoms of respiratory tract malformations can appear at any age.

• Like in some infants, a severe congenital lung disease shows respiratory distress, trouble breathing, wheezing, blue skin, and difficulty feeding.

• A fetus with a genetic lung malformation shows signs of hydrops fetalis on ultrasound. Hydrops fetalis is a severe condition presenting abnormal fluid build-up in one or multiple organs. In severe infections, an affected infant might die post-birth.

• The abnormality is detected on an imaging test, a prenatal ultrasound, or a chest X-ray. Such malformations remain unidentified or are diagnosed in an autopsy.

• Symptoms vary according to the severity and type of respiratory tract malformation. Symptoms depend on respiratory tract involvement, the type of malformation, and the location of the affected area. Respiratory tract malformations rarely have congenital issues that affect other organs, like the heart or nervous system.

Some potential problems include the following:

• Blood in the cough.

• Recurrent lung infections.

• Hemothorax (blood surrounding the lungs).

• Pneumothorax.

• Blue-tinged skin (cyanosis).

• Fatigue.

• Shortness of breath.

• Clubbing of the fingers.

• Heart failure.

What Causes Respiratory Tract Malformations?

The development of the lungs and airways occurs in a series of complex steps. This development occurs during prenatal development. The cells form airways, followed by the formation of lungs in a complicated and coordinated way. Any interference in this developmental process can result in respiratory tract malformations.

• The lung consists of tiny pockets called alveoli. The oxygen breathed in enters the blood, and carbon dioxide enters the alveoli. This carbon dioxide leaves the body while we breathe out. All the body cells require oxygen for proper functioning, and carbon dioxide can cause problems if it is not usually removed.

• When the lungs do not develop normally, it can lead to symptoms followed by complications. The lung can be life-threatening if it cannot perform its normal function. Some lung parts work well for people with respiratory tract malformations, so issues are not critical.

• Environmental factors also play a role; Infectious conditions and medications during pregnancy can multiply the risk of congenital abnormalities in organs.

How to Diagnose Respiratory Tract Malformations?

There are chances of congenital lung malformations at any age, as well as during the prenatal phase. Due to diagnostic methods such as imaging, this condition is diagnosed more frequently than in the past.

• A chest X-ray to diagnose other diseases can give an idea about congenital lung malformation.

• Medical history and exams help with the diagnosis. The healthcare provider asks about recent symptoms, long-term medical conditions, and family medical history. The exam provides ideas if the person needs immediate treatment. It is essential to differentiate other medical problems with the same symptoms or imaging reports (lung infection, sarcoidosis, or genetic syndromes.)

• Medical imaging tests also play an essential role. Also, congenital lung malformations are diagnosed during pregnancy.

• Detailed ultrasound scans are performed around week 20. A diagnostic method such as ultrasound can provide information about the severity of the condition.

• A fetal echocardiogram may also indicate whether other organs might be involved.

• Chest X-ray is an essential diagnostic tool. However, it is important to note that chest X-rays do not pick up all congenital lung malformations.

• Computerized tomography (CT) of the chest is considered the gold standard for diagnosis. CT provides detailed information.

• CT angiography or magnetic resonance imaging (MRI).

• Bronchoscopy, an examination of the inside of bronchioles with the help of a narrow tube and camera, can be helpful.

Basic tests may be needed to rule out other causes.

• Pulse oximetry.

• Arterial blood gas.

• Complete blood count.

• Tests of blood glucose.

• Tests for infection in blood culture.

• Echocardiogram to rule out heart problems.

• Genetic testing.

How to Treat Respiratory Tract Malformations?

When a fetus is diagnosed prenatally, treatment is determined after consultation with specialists. Infants diagnosed with congenital lung malformations need therapy at birth. Suppose signs of nonfunctional lungs are seen; the treatment includes supplemental oxygen, ventilator-assisted respiratory support, or extracorporeal membrane oxygenation (ECMO).

• Surgery: The ideal treatment option is surgery, which can be performed after birth, months later, or in late childhood. Surgery is recommended if a person experiences respiratory malformation symptoms like repeated infections. Most surgery removes the affected area and some of the surrounding tissue. Fortunately, this leaves enough functioning lung tissue for most people with congenital lung malformations. A wedge resection removes a small part of the lung. In a lobectomy, the surgeon removes a comparatively larger section, a lung lobe. An invasive approach such as pneumonectomy removes an entire lung.

• Video-Assisted Thoracoscopic Surgery (VATS): It is a minimally invasive type of surgery. These approaches are less invasive than open surgeries.

• Most infants diagnosed with potential respiratory tract malformations are born without complications and do not show any symptoms at birth. At the same time, the elderly population is analyzed later during an imaging study without any symptoms. If the treatment involves the non-removal of the malformation surgically, repeated imaging scans to monitor for the potential development of cancer is recommended.

Conclusion

Respiratory tract malformations are an uncommon medical problem but can be unpleasant for expectant parents. Fortunately, most babies with such malformation will do very well, and professional support and treatment can be provided if needed. An interdisciplinary medical team can figure out a management plan that makes sense for the family.