Critical Congenital Heart Disease
Critical congenital heart disease (CCHD) represents a group of heart defects that cause serious, life-threatening symptoms and requires intervention within the first days or first year of life. CCHD is often treatable if detected early. It can encompass abnormalities in the rhythm of the heart, as well as a wide array of structural heart problems. These problems can range from mild (never requiring cardiac surgery), to severe (requiring multiple different stages of open heart surgeries). CCHD can involve abnormal or absent chambers, holes in the heart, abnormal connections in the heart, and abnormalities in the function or squeeze of the heart. Most congenital heart conditions affect patients from childhood through adulthood.
Some babies affected with CCHD can look and act healthy at first, but within hours or days after birth they can have serious complications. Pulse oximetry newborn screening is a non-invasive test that measures how much oxygen is in the blood and can help to identify babies that may be affected with CCHD before they leave the newborn nursery. If detected early, infants affected with CCHD can often be treated and lead longer, healthier lives.
Causes:
The causes of critical congenital heart disease (CCHD) among most babies are unknown. Genetic and environmental factors appear to play roles and studies into causes are continuing.
Approximately 10% of babies with heart defects have these conditions because of changes in their genes or chromosomes. Scientists have identified 10 genemutations, or changes, not involved with other birth defects that can impact congenital heart defects. Babies who are found to have CCHD may be evaluated by a clinical geneticist. This could help identify genetic syndromes associated with CCHDs. Some of the genetic conditions that are common in children with CCHD include Noonan syndrome, velecardiofacial syndrome, Down syndrome, and Turner syndrome. Not all children who have CCHD will also have a genetic condition.
Environmental factors, such as drugs, illnesses, or chemicals, that a pregnant women is exposed to during pregnancy can affect how the baby’s heart develops. Some examples include infection with Rubella (German Measles), smoking, maternal obesity, maternal diabetes, and use of Accutane (taken to treat acne), Dilantin (used to treat seizures) or cocaine. Exposure to certain substances in the environments, such as paints, chemical solvent, and pesticides can contribute to congenital heart defects.
Symptoms:
Signs of critical congenital heart disease in infants include:
- Loss of healthy skin color
- Cyanosis (a bluish tint to the skin, lips, and fingernails)
- Rapid or troubled breathing
- Swelling or puffiness in the face, hands, feet, legs, or areas around the eyes
- Shortness of breath or tires easily during feedings
- Sweating around the head, especially during feeding
- Poor weight gain
Treatment: Treatment for critical congenital heart disease (CCHD) depends on the type of heart defect present. If a CCHD is detected, you will meet with a pediatric cardiologist to talk about the findings and treatment options. Most heart defects can be corrected or improved with surgery, procedures and/or medications. The following are a few of the more common treatments used.
Catheter Procedures
Catheter procedures are easier and less invasive than surgery. This procedure involves threading a long tube, called a catheter, through the blood vessels to the heart. This allows the doctor to take measurements and repair the problem in the heart. Catheter procedures are used to repair simple heart defects, and the process varies with each defect.
Surgery
Surgery may be necessary if the heart defect cannot be fixed using catheter procedures. Sometimes one surgery is enough to repair the defect, but occasionally several surgeries are needed to fix the problem. Cardiac surgeons can use surgery to close holes in the heart, repair heart valves, widen arteries or openings to the heart valves, and repair other complex defects.
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