Summary about Disease
Congenital diaphragmatic hernia (CDH) is a birth defect where there is an opening in the diaphragm, the muscle that separates the chest and abdomen. This opening allows abdominal organs (stomach, intestines, liver, spleen) to move into the chest cavity, hindering lung development. CDH can lead to pulmonary hypoplasia (underdeveloped lungs) and pulmonary hypertension (high blood pressure in the lungs), causing significant breathing difficulties in newborns.
Symptoms
Symptoms typically present shortly after birth and can include:
Difficulty breathing
Rapid breathing
Rapid heart rate
Cyanosis (bluish skin color)
Sunken abdomen
Barrel-shaped chest
Decreased breath sounds on the affected side
Heart sounds shifted to the opposite side of the chest
Causes
CDH is primarily caused by a failure of the diaphragm to completely close during fetal development. The exact cause is often unknown but is believed to be multifactorial. Contributing factors can include:
Genetic factors: Certain genetic conditions or chromosomal abnormalities are associated with an increased risk of CDH.
Environmental factors: Exposure to certain environmental toxins or medications during pregnancy may play a role.
Nutritional deficiencies: Maternal nutritional deficiencies during pregnancy have been implicated in some cases.
Medicine Used
Medications used in the treatment of CDH primarily focus on supporting respiratory function and managing pulmonary hypertension. Common medications include:
Surfactant: Administered to improve lung function.
Nitric oxide: A vasodilator used to reduce pulmonary hypertension.
Sildenafil (Viagra): Another vasodilator used for pulmonary hypertension.
Inotropes (e.g., dopamine, dobutamine): Used to support heart function and blood pressure.
Sedatives and analgesics: To keep the infant comfortable and to facilitate mechanical ventilation.
Is Communicable
No, Congenital Diaphragmatic Hernia (CDH) is not communicable. It is a birth defect and not caused by an infectious agent.
Precautions
Since CDH is a congenital condition, there are limited precautions that can be taken to completely prevent it. However, some measures to potentially reduce the risk include:
Prenatal care: Regular prenatal checkups and following a healthy pregnancy diet.
Folic acid supplementation: Adequate folic acid intake before and during pregnancy.
Avoiding teratogens: Avoiding exposure to known teratogens (substances that can cause birth defects) such as alcohol, tobacco, and certain medications during pregnancy.
Genetic counseling: If there is a family history of CDH or other birth defects, genetic counseling may be recommended.
How long does an outbreak last?
CDH is not an outbreak-related disease. Each case is individual. There are no outbreaks of CDH. The focus is on the duration of treatment and long-term management for the affected individual.
How is it diagnosed?
CDH is typically diagnosed during prenatal ultrasound screenings. After birth, diagnostic methods include:
Physical examination: Assessing for characteristic signs and symptoms.
Chest X-ray: To visualize the abdominal organs in the chest cavity.
Echocardiogram: To evaluate heart function and pulmonary artery pressure.
Arterial blood gas: to access the oxygen level in blood and the acid base balance.
Timeline of Symptoms
Prenatal: May be detected during routine prenatal ultrasound, typically during the second trimester.
At Birth: Symptoms usually appear shortly after birth, within minutes to hours.
First Few Days/Weeks: The severity of symptoms can fluctuate depending on the extent of lung development and the degree of pulmonary hypertension. Treatment and stabilization are crucial during this period.
Long-term: Survivors may experience long-term respiratory problems, feeding difficulties, and developmental delays. Ongoing monitoring and support are necessary.
Important Considerations
Multidisciplinary care: Management of CDH requires a multidisciplinary team, including neonatologists, surgeons, pulmonologists, cardiologists, and other specialists.
Extracorporeal Membrane Oxygenation (ECMO): In severe cases, ECMO may be necessary to provide temporary respiratory and circulatory support.
Surgical repair: Surgical repair of the diaphragmatic defect is typically performed once the infant is stabilized.
Long-term follow-up: Long-term follow-up is essential to monitor for potential complications and developmental delays.
Parental support: Parental support and education are crucial throughout the treatment process.