What are Congenital Lung Diseases?
Congenital lung disorders, also known as cystic lung disease or congenital lung malformations, occur prenatally.
We diagnose congenital lung conditions on prenatal ultrasounds. We diagnose about 10 percent of congenital lung disorders at birth, while 14 percent develop by age 15.
Congenital Lung Diseases in Adults
Some congenital lung anomalies may not cause symptoms during childhood and may be detected incidentally in adulthood. These diseases may sometimes present with complaints such as recurrent lung infections, shortness of breath, chronic cough, or chest pain.
Congenital pulmonary airway malformation CPAM, pulmonary sequestration, bronchogenic cysts, and congenital lobar emphysema are among the diseases that can also be diagnosed in adulthood.
Congenital lung anomalies can often mimic other thoracic pathologies, may present acutely, and may require urgent evaluation. It is important to include these malformations in the differential diagnosis of adult thoracic pathology and to understand their presentation patterns, potential complications, and management strategies.
Radiological diagnosis is reliably made with computed tomography and/or magnetic resonance imaging. The malignant potential in some of these congenital lesions is an important consideration. The management of these asymptomatic lesions is always considered controversial. However, early removal is generally recommended to eliminate the potential for future complications. Complete resection is recommended.
It is recommended that these lesions be removed by thoracoscopic surgery. In general, a well-organized collaboration between pediatric and adult pulmonology is required to ensure a smooth medical transition from childhood to adulthood for these congenital lung malformations.
What are the Different Congenital Lung Disorders?
There are four general types of congenital lung disorders:
Bronchogenic cysts
Bronchogenic cysts usually develop in the bronchus or trachea. Still, they can present in the lower lobes of the lung. They can compromise the respiratory tract if they become infected or get too large.
Congenital cyst
Congenital cystic adenomatoid malformations (CCAMs) occur when a baby's lung tissue grows larger than usual. Babies may have only a single cyst or multiple. They can cause cysts filled with fluid or solid masses in the lungs. Cysts can also impair the alveoli (air sacs in the lungs) functions. Cysts are usually located in one lobe of the lung. (CCAMs are also called congenital pulmonary airway malformations or CPAMs.)
Lobar emphysema
Lobar emphysema is a rare and severe condition that disrupts airflow during breathing. It can cause over-inflation of the lung lobes.
Pulmonary sequestrations
Pulmonary sequestrations are masses of solid lung tissue. Pulmonary sequestrations do not connect to any airway or bloodstream of the lungs. They can be inside the rib cage, inside (intralobular), or outside (extralobular) the lungs.
What are the signs and symptoms of Congenital Lung Diseases?
Children with congenital lung disorders may have the following symptoms.
- Rapid breathing
- Painful or difficult breathing
- Shortness of breath or wheezing,
- Recurrent pneumonia
Problems with congenital lung conditions depend on the malformations' severity and location. Smaller cysts may have no effect, while larger cysts may be fatal.
How Are Congenital Lung Diseases Diagnosed?
We can see congenital lung disorders on regular prenatal ultrasounds. If it is not fatal, we monitor the condition prenatally with ultrasounds, MRIs, or echocardiograms.
Bronchogenic cysts are usually revealed on fetal ultrasound if your fetus has signs of airway obstruction. Chest X-rays detect the condition after birth in newborns.
Lobar emphysema is usually discovered on a chest X-ray after your baby is born. Symptoms such as painful or difficult breathing usually appear soon after birth. The malformation can be seen on an X-ray.
Pulmonary sequestrations are noticed late.
Congenital Lung Diseases Treatments
Most of the time, babies with congenital lung disorders are born normally. Congenital lung diseases are mostly treated with surgery.
The decision for surgical treatment in congenital lung diseases is planned according to the type and size of the disease, the symptoms it causes, the risk of infection, its effect on lung development, and the patient’s age. While some small and asymptomatic lesions may be closely monitored, surgical treatment is recommended in many patients. Today, many centers recommend an elective surgical approach before complications develop.
Especially in cases such as:
- recurrent infection,
- respiratory distress,
- airway compression,
- growing cystic lesions,
surgical treatment becomes prominent.
Bronchogenic Cysts
Bronchogenic cysts are lesions that are generally recommended to be surgically removed due to the risk of infection, airway compression, bleeding, and rarely malignant transformation.
Surgical Indications
- Surgical Indications
- Respiratory distress
- Airway compression
- Recurrent infection
- Cyst growth
- Symptomatic mediastinal compression
- Diagnostic suspicion
Timing of Surgery
In symptomatic patients, surgery is recommended after diagnosis. In asymptomatic cases, many centers recommend elective resection before complications develop, usually during infancy or early childhood. Depending on the location of the cyst and your child’s age, minimally invasive surgery called thoracoscopy VATS is preferred as the first option. Depending on the situation and difficulty level, hybrid and open surgery may also be preferred.
Congenital Pulmonary Airway Malformation CPAM
CPAM is one of the most commonly operated congenital lung diseases. Surgery is frequently recommended due to the risk of infection, air leak, respiratory distress, and rarely malignant transformation.
Surgical Indications
- Respiratory distress
- Recurrent pneumonia
- Large or growing cystic lesion
- Mediastinal shift
- Airway compression
- Symptomatic lesions
- Complex lesions carrying malignancy risk
Timing of Surgery
Early surgery may be required in symptomatic newborns. In asymptomatic patients, many centers generally recommend waiting until 6 months to 1 year of age in terms of lung development and surgical safety.
Congenital Lobar Emphysema
Congenital lobar emphysema is characterized by excessive air accumulation in the affected lung lobe and may cause severe respiratory distress.
Surgical Indications
We generally prefer closed surgery methods (Thoracoscopic Surgery/VATS) in Pediatric lung diseases. With the development of technology, we prefer closed surgery methods even for children aged 8-12 months. The closed surgery method uses one or two incisions, as in open surgery, by placing an intercostal retractor. One of these incisions is 1 cm, and the other is a two or 3-cm incision. Surgical instruments are advanced through these incisions. The diseased area is removed. Closed surgery; has many advantages, such as less pain, shorter recovery time, and more aesthetics. Even a tiny incision looks very big in open surgery. Patients generally stay in the intensive care unit for one day. Patients are discharged in 3-4 days.
These closed surgeries in children require special high-tech devices and need a highly experienced center.
Timing Of Surgery
In symptomatic patients, surgery is often life-saving and is performed in the early period. Close follow-up may be performed in selected patients with mild symptoms or no symptoms; however, many centers recommend elective lobectomy before complications develop.
Pulmonary Sequestration
Pulmonary sequestration is lung tissue that has no connection with the normal bronchial system and is supplied by an abnormal systemic artery.
Surgical Indications
- Recurrent infection
- Respiratory symptoms
- Pain
- Risk of bleeding
- Complications related to the systemic artery
- Diagnostic suspicion
Timing of Surgery
In pulmonary sequestrations, many centers recommend elective surgery even in asymptomatic cases because of future infection and vascular complications. Surgery is usually planned within the first year of life.
Surgical Technique in Pediatric Thoracic Surgery Cases
Pulmonary sequestration is lung tissue that has no connection with the normal bronchial system and is supplied by an abnormal systemic artery.
Surgical Indications
In pediatric lung diseases, closed surgery methods, known as thoracoscopic surgery VATS, are generally preferred. Thanks to technological development and the miniaturization of pediatric surgical equipment, we prefer closed surgeries even in suitable children aged 8 to 12 months.
In closed surgery methods, unlike open surgery, the ribs are not opened with a retractor; the procedure is performed through one or two small ports. One of these incisions may be 3 to 5 mm, or in selected cases, small auxiliary incisions of 1 to 3 cm may be made. The camera system and special thoracoscopic surgical instruments are advanced through these small openings. The diseased area is removed.
In pediatric lung diseases, closed surgery methods, known as thoracoscopic surgery VATS, are generally preferred. Thanks to technological development and the miniaturization of pediatric surgical equipment, we prefer closed surgeries even in suitable children aged 8 to 12 months.
In closed surgery methods, unlike open surgery, the ribs are not opened with a retractor; the procedure is performed through one or two small ports. One of these incisions may be 3 to 5 mm, or in selected cases, small auxiliary incisions of 1 to 3 cm may be made. The camera system and special thoracoscopic surgical instruments are advanced through these small openings. The diseased area is removed.
Closed surgery has important advantages such as less pain, faster recovery, a shorter hospital stay, lower chest wall trauma, and more aesthetic cosmetic results.
Even a small incision may appear very large compared with open surgery. These closed operations require special high-technology devices and an advanced, highly experienced center. In some complex cases, a hybrid surgical approach, meaning VATS and mini-open approach, may be applied. In the hybrid system, surgical safety can be increased by using small auxiliary incisions together with closed surgery, especially in cases where vascular control is difficult.
When necessary, conversion to open surgery, known as thoracotomy, can be performed by prioritizing patient safety. Patients are generally followed in the pediatric intensive care unit or under close monitoring after surgery. Most patients can be discharged within 3 to 5 days, depending on their clinical condition.
These operations require advanced technological imaging systems, special pediatric thoracoscopic equipment, an experienced surgical team, and pediatric anesthesia infrastructure.
Frequently Asked Questions About Congenital Lung Diseases
If babies are born with congenital lung disease, treatment is possible only with surgery, not medication. Therefore, good observation and treatment plan is essential after birth.
It is crucial because congenital lung diseases undiagnosed in childhood will form the infrastructure of different conditions later. Therefore, as in every disease, early diagnosis and patient history from childhood to adulthood are vital in congenital lung diseases.
The choice of the hospital is critical in delivering babies with congenital lung diseases. The delivery must be in hospitals with neonatal intensive care units. We recommend hospitalization in the newborn intensive care unit in case of possible problems to prevent possible complications.
Yes, it is operable because they cause problems, especially in the respiratory tract. In this sense, you may need an operation, depending on your doctor's decision. We generally prefer the closed surgery method/thoracoscopic surgery/VATS. Bronchogenic cysts usually develop in the trachea but sometimes also in the lower lobes of the lung, which may affect the surgery method.
Congenital lung diseases can be fatal if left untreated. As with any disease, early diagnosis is critical in congenital lung diseases.
We generally prefer closed surgery methods (Thoracoscopic Surgery/VATS) in Pediatric lung diseases. With the development of technology, we prefer closed surgery methods even for children aged 8-12 months. The closed surgery method uses one or two incisions, as in open surgery, by placing an intercostal retractor. One of these incisions is 1 cm, and the other is a two or 3-cm incision. Surgical instruments are advanced through these incisions. The diseased area is removed. Closed surgery; has many advantages, such as less pain, shorter recovery time, and more aesthetics. Even a tiny incision looks very big in open surgery. Patients generally stay in the intensive care unit for one day. Patients are discharged in 3-4 days.
These closed surgeries in children require special high-tech devices and need a highly experienced center.