Some of the most common conditions of congenital heart disease are:
- Aortic Coarctation
- Atrial Septal Defect
- Bacterial Endocarditis
- Ebstein Anomaly
- Eisenmenger’s Syndrome
- Pulmonary Stenosis
- Tetralogy of Fallot
- Transposition of the Great Arteries
- Ventricular Septal Defect
Advances in surgery and medication mean that more and more children born with heart defects are surviving. In addition, minor congenital heart defects that don’t cause symptoms may not be diagnosed until a person is an adult or reaches middle age. It is estimated that 20,000 people with congenital heart disease reach adulthood every year in North America. Because people born with defects are most likely to pass on these defects to their children, it is likely that the prevalence of adults living with chronic defects will increase.
For some people with mild levels of disease, the only treatment necessary may be regular monitoring of the defect and extra precautions against infection during surgical or dental procedures. For others, treatment may range through various medication therapies up through heart and lung transplantation.
Ebstein anomaly is a rare defect in which the tricuspid valve, which prevents backflow of blood from the right ventricle into the right atrium, is deformed. The right side of the heart is where deoxygenated blood from the body is pumped into the lungs for oxygenation. Ebstein anomaly usually consists of the valve being displaced downward into the ventricle. The three flaps, or leaflets, that make up the valve opening are malformed or absent. This results in blood leaking back into the atrium.
In addition to the valve malformation, this condition also often includes:
- Atrial septal defect, a hole between the atrial chambers, in about half of patients
- Enlarged right heart chambers
- Irregular heart rhythm or arrhythmia
Babies born with Ebstein anomaly usually are treated surgically in infancy so most adults with the condition only have mild symptoms. Often, when Ebstein anomaly is first detected during adulthood, the condition is mild. More severe complications can result in heart failure and in cyanosis (the skin takes on a bluish tint due to a lack of oxygen). An adult may experience difficulty breathing, have problems with exercise, chest pain and fainting spells.
Eisenmenger’s syndrome, which is named after the doctor who first described it, is a combination of two conditions. First, it involves having a hole between two cardiac chambers that allows oxygenated blood to recirculate back into the right ventricle and to the lungs instead of flowing out of the left ventricle to the rest of the body. Over time, this extra blood flow to the lungs damages their vessels, causing high pressures or pulmonary hypertension that reverses the flow of blood, so the deoxygenated blood goes out to the rest of the body.
Eisenmenger’s syndrome refers to this combination of reversed blood flow with pulmonary hypertension. It results in cyanosis or low oxygen content in the blood and may eventually result in failure of the right ventricle. However, many patients live well into adulthood with the proper care.
The hole may be a ventricular septal defect, an atrial septal defect or a patent ductus arteriosus. A baby born with a single ventricle also may develop this condition.
Signs and symptoms of Eisenmenger’s syndrome include:
- Cyanosis, a blue tinge to the skin resulting from lack of oxygen
- High red blood cell count
- Fainting, called syncope
- Heart failure
- Arrhythmia or irregular heart rhythms
- Bleeding disorders
- Coughing up blood
- Swollen or clubbed finger tips
- Iron deficiency
- Kidney problems
Pulmonary stenosis is a narrowing of the pulmonary valve that regulates the flow of blood from the right ventricle to the lungs. This narrowing may force the heart to pump harder to send blood to the lungs and lead to enlargement of the heart.
The heart consists of four chambers. The two upper chambers, called atria, where blood enters the heart and the two lower chambers, called ventricles, where blood is pumped out of the heart. The flow between the chambers is controlled by a set of valves that act as one-way doors.
Blood is pumped from the right side of the heart up through the pulmonary valve to the pulmonary artery to the lungs, where the blood is filled with oxygen. From the lungs, the blood travels back down to the left atrium and left ventricle. The newly oxygenated blood is pumped through another big blood vessel called the aorta to the rest of the body.
The pulmonary valve has three leaflets or valves that work to open and close the valve. Stenosis occurs when the valve does not open fully and obstructs blood flow. Stenosis may occur because the valve is deformed with only one or two leaflets, or because the leaflets are stuck together.
People with pulmonary stenosis often have no symptoms. However, if the condition is severe, symptoms may include:
- Turning blue (cyanosis)
- Rapid breathing
- Low energy