Congenital Diaphragmatic Hernia – Symptoms and Causes
Overview
Congenital diaphragmatic hernia (CDH) is a birth defect that forms early during pregnancy. This condition occurs when a baby’s diaphragm doesn’t close properly, creating a hole between the chest and abdomen.
Through this opening, abdominal organs like the intestines, stomach, and liver can move into the chest cavity. When intestines enter the chest, they may not develop normal anchoring connections, putting them at risk for twisting (volvulus) and losing blood supply.
CDH affects lung development in significant ways:
- The lung on the affected side becomes smaller
- Both lungs have abnormal development
- Air sacs (alveoli) don’t form correctly
- Blood vessels in the lungs develop high pressure
These lung problems make breathing difficult for newborns with CDH. Some babies also have heart development issues alongside their diaphragm defect.
Key Facts About CDH:
- Forms during early fetal development
- Creates an opening between the chest and abdomen
- Allows abdominal organs to enter the chest
- Impacts lung growth and function
- May affect heart development
Treatment approaches depend on three main factors:
- When doctors diagnose the condition
- The severity of the defect
- Whether heart problems are present
Signs and Problems
Babies born with congenital diaphragmatic hernia (CDH) show different levels of health issues. Some cases are mild with few symptoms, while others are more serious.
Common problems in babies with CDH include:
- Breathing difficulties caused by underdeveloped lungs that don’t function properly
- High blood pressure in lung arteries affecting the right side of the heart
- Heart development issues
- Organ damage if stomach, liver, intestines or other abdominal organs shift into the chest cavity through the hernia
When Medical Help Is Needed
CDH is often discovered during standard pregnancy ultrasounds.
If your doctor identifies this condition, they will discuss various treatment options with you. This early detection allows for proper planning and preparation before birth.
Causes
Most of the time, doctors don’t know why congenital diaphragmatic hernia (CDH) happens. Some cases link to genetic disorders or random gene changes (mutations).
When genes are involved, babies might face additional health challenges at birth. These can include:
- Heart problems
- Eye issues
- Arm and leg abnormalities
- Stomach and intestinal complications
These extra health issues often happen alongside CDH when genetic factors play a role.
Possible Complications
Congenital diaphragmatic hernia (CDH) can lead to several health issues that may affect a child’s development and quality of life. These complications can range from mild to severe, depending on the individual case.
Respiratory System Problems
Children with CDH often face lung issues because the hernia can prevent normal lung growth. The lungs may be smaller than normal or not fully developed, leading to breathing difficulties.
Digestive System Complications
The stomach, intestines, and liver may be affected since these organs can move into the chest cavity. This displacement can cause problems with digestion and nutrient absorption.
Heart-Related Issues
Heart disease is common among CDH patients. The abnormal position of organs can put pressure on the heart or affect how it develops.
Increased Risk of Infections
Children with CDH may get more infections, especially respiratory ones, due to their compromised lung function.
Sensory Impairments
Some children experience hearing loss, which might require testing and possible intervention.
Musculoskeletal Changes
The physical structure of the chest and spine may be affected. Some children develop an unusual chest shape or scoliosis (curved spine).
Acid Reflux
Gastroesophageal reflux disease (GERD) occurs when stomach acid flows back into the esophagus. This is more common in CDH patients due to changes in the position of the stomach.
Growth Challenges
Many children with CDH have trouble with:
- Weight gain
- Normal growth patterns
- Nutrition absorption
Developmental Concerns
Some patients experience:
- Delayed development milestones
- Learning disabilities
- Cognitive challenges
Associated Birth Defects
CDH may occur alongside other congenital conditions that require additional treatment and monitoring.
Long-term care for CDH patients typically involves a team of specialists who monitor these potential complications. Regular check-ups are important to catch and address issues early.
The severity of complications varies widely between patients. Some children may have minimal long-term effects, while others might need ongoing medical support throughout childhood and beyond.
