A person who is born with a fault in the structure of the heart or the main arteries is said to have congenital heart disease, or a congenital heart defect. It is a common birth defect, and a leading cause of deaths linked to birth defects.
Congenital heart defect (CHD) may obstruct blood flow in the heart or nearby vessels, or it may cause blood to flow through the heart in an abnormal way.
Approximately 8 to 10 in every 1,000 babies are born with some kind of congenital heart disease or defect. Half will need surgery immediately after they are born, while the rest will likely need surgery at some time during childhood.
In the past, it was common for people born with CHD to die of related issues, but medical and technological advances mean that CHD is no longer an childhood disease. Recent research shows that as more people survive through childhood with the condition, it is becoming increasingly common among adults.
Those who receive treatment for CHD as children should continue to be followed up, and those with complex health needs might need life-long specialized care.
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Types of heart disease
There are over 30 different types of heart defect, and they can be classified as either cyanotic or acyanotic.
Congenital heart disease is present from birth and can affect the health at any age.
- In cyanotic heart disease, the defect causes low blood oxygen levels. Infants suffer from breathlessness, fainting, and fatigue, and they may have blue-colored toes, fingers, and lips.
- In acyanotic heart disease, there is enough oxygen in the blood, but the blood is not pumped around the body in a normal way.
In CHD, blood pressure is higher than normal, so the heart works harder to pump blood. This can weaken the heart. There may be pulmonary hypertension, or high blood pressure in the arteries of the lungs, leading to breathlessness, fatigue, dizziness, and fainting.
Symptoms of congenital heart disease
Signs and symptoms of cyanotic heart disease include:
- Breathing difficulties
- Chest pains
- Cyanosis or bluish lips, fingers, and toes
- Delayed growth
- Feeding difficulties, poor appetite
- Hypoxia, or low concentrations of oxygen in the body, leading to hyperventilation
- Sweating especially during feeding
- Small size or low body weight
Signs and symptoms of acyanotic heart disease include:
- Breathlessness - especially during exertion
- Chest pain
- Delayed growth
- Extreme fatigue
- Feeding difficulties and poor appetite
- Sweating, especially during feeding
- Low body weight.
An infant may have no symptoms at the time of birth, but problems emerge later in life.
Risk factors for congenital heart disease
CHD is usually the result of a problem in the early stages of development inside the womb.
Environmental risk factors that may contribute to the development of the condition include:
- Rubella, or German measles, in the mother during pregnancy
- Diabetes Types I or II in the mother, but not gestational diabetes
- Medications taken during pregnancy, for example isotretinoin, or Accutane
- Alcohol consumption/abuse during pregnancy
Certain genetic conditions may raise the risk of congenital heart disease; 1 in 3 children with Down syndrome have a heart defect.
The condition may run in families.
Reappearance of congenital heart disease in adulthood
Heart defects can be repaired during childhood so that heart function improves, but they are rarely cured, and problems can resurface later in life.
Children with CHD may need surgery and followup throughout their life.
Scar tissue from surgery during childhood sometimes remains in the heart, increasing the risk of arrhythmia, or abnormal heart rhythm.
A person with congenital heart disease later in life may experience:
- Arrhythmia, or abnormal heart rhythms
- Edema, or swelling of organs or body tissues
- Tiring easily after exertion.
Some children have signs and symptoms of CHD that are not serious enough to warrant repair, but these can worsen over time.
Diagnosing congenital heart disease
Before birth, a kind of ultrasound scan called a fetal echocardiography can test for CHD in the developing fetus by taking images of the fetal heart chambers. This is normally done around weeks 18 to 20 of pregnancy.
After birth, a newborn that has signs of cyanotic heart disease can be easily diagnosed. However, diagnosis of acyanotic heart disease may not happen until the age of 3 years.
Parents or caregivers should consult a physician if a child experiences breathlessness, problems with feeding, or other symptoms.
The physician will normally use an echocardiogram or electrocardiogram (ECG) to assess heart activity.
Echocardiography uses sound waves to produce a moving image of the heart. The image shows the size and shape of the heart, and how well the heart chambers and valves are functioning.
An ECG can highlight any areas of poor blood flow, or parts of the heart muscle that are not contracting properly. It can show whether or not poor blood flow has already caused injury to the heart muscle.
A chest X-ray can show whether the heart is too big, and whether there is too much blood in the lungs.
Pulse oximetry measures oxygen levels in arterial blood by putting a sensor on the patient's fingertip, ear, or toe.
Adults may undergo similar tests, in addition to an exercise stress test, in which the patient exercises on a treadmill, while measurements of heart activity and blood pressure are taken.
Treatment for congenital heart disease
Sometimes congenital heart disease improves without treatment, or the defect is so small that treatment is not needed.
Watchful waiting may show that a patient needs surgery, medications, or both. Treatment can be necessary at any age.
Antihypertensives are a kind of medication that lowers blood pressure. A range of techniques are now available.
Surgery can be carried out through a catheter, it can be open heart surgery, or a heart transplant or valve replacement may be needed.
To repair a valve, a balloon angioplasty may be carried out, in which a small balloon is passed through the catheter, and inflated, to widen the target valve. A stent, or metal coil, may be used to stop the valve from narrowing again.
Complications of congenital heart disease
Children with CHD may take longer to start walking or talking, and they may have learning difficulties.
Endocarditis is an inflammation of the heart lining, heart muscles, and heart valves. It can spread from another part of the body, such as on the skin or the gums. People with CHD are more susceptible to endocarditis.
Arrhythmias, or irregular heartbeats, can occur if the electrical impulses to the heart that coordinate heartbeats are not working properly. A fast heart beat is called tachycardia, and a slow heart beat is bradycardia. An irregular heartbeat is known as fibrillation.
A stroke can happen if a blood clot or ruptured artery or blood vessel interrupts blood flow to a part of the brain. A lack of oxygen and glucose, or sugar, flowing to the brain causes brain cells to die. This can lead to problems with speech, movement, and memory.
Heart failure happens when the heart is not pumping blood around the body efficiently. It can affect the left, the right, or both sides of the body. Symptoms depend on which side is affected and how severe the heart failure is. It can be serious.
Pulmonary hypertension means there is high blood pressure in the arteries in the lungs. If not treated properly, there can be permanent lung damage.