What is Congenital Heart Disease (CHD)?
CHD, or congenital heart disease, refers to problems or defects of the heart that happened while the heart was developing in a baby before birth. The heart defects vary and can affect the valves, the walls of the heart, or the blood vessels (veins and arteries) surrounding the heart. Congenital heart disease is the most common birth defect and occurs in about 1 in 100 babies.
Congenital Heart Disease (CHD) Symptoms
Symptoms of CHD will differ depending on the heart defect and the child’s age. Many congenital heart defects can be detected in a baby before birth, allowing doctors to plan for the care of a newborn after delivery. In other cases, doctors will note symptoms in a baby after birth, including:
- difficulty breathing
- abnormal oxygen levels that are too low
- abnormal color of the skin, fingernails or lips
- difficulty with feeding including breathing fast, fatigue with feeds, or not gaining enough weight
- abnormal heart rates or rhythms
- abnormal sounds of the heart (murmur)
Other children will not have any symptoms at birth and may develop these symptoms later in life, or a congenital heart condition may be diagnosed by a cardiologist based on other symptoms.
Types of Congenital Heart Disease (CHD)
There are many different types of congenital heart disease that can be grouped based on how they affect the child.
Too much blood flow to lungs
These heart conditions cause too much blood flow to the lungs, which can cause increased pressure and stress on the lungs. This can cause difficulty breathing, difficulty feeding or poor growth. Some children with these conditions may not have symptoms:
- Atrial Septal Defect (ASD)
- Atrioventricular Septal Defect (AVSD) or AV Canal
- Patent Ductus Arteriosus
- Ventricular Septal Defect (VSD)
Too little blood flow to lungs
These problems cause too little blood to flow to the lungs or cause “blue blood” (with less oxygen) to travel through the body. Children with these defects very often have lower oxygen levels and may appear cyanotic, which means they have a blue tint to skin, fingernails or lips.:
- Pulmonary Atresia
- Pulmonary Stenosis
- Tetralogy of Fallot
- Transposition of the Great Arteries
- Tricuspid Atresia
- Truncus Arteriosus
Too little blood flow to body
These problems lead to too little blood flow to the body as a result of small or blocked heart valves or blood vessels:
- Hypoplastic Left Heart Syndrome
- Interrupted Aortic Arch
- Coarctation of the Aorta
- Complex Single Ventricle
- Aortic Stenosis
Abnormalities of valves and vessels
Some congenital heart conditions stem from abnormalities of certain valves and vessels. These can have different effects on the child, depending on the heart defect:
- Anomalous Left Coronary Artery
- Anomalous Pulmonary Venous Return
- Bicuspid Aortic Valve
- Corrected Transposition of the Great Arteries
- Ebstein’s Anomaly
- Mitral Valve Prolapse
Causes of Congenital Heart Disease (CHD)
Most forms of congenital heart disease have no known cause. There are certain heart defects that can occur in multiple family members and likely have a genetic cause. Other heart defects are known to commonly accompany certain genetic syndromes such as down syndrome (Trisomy 21) or DiGeorge syndrome. Rarely, heart defects can be caused by certain medications that a mother may take during pregnancy or by a specific illnesses in the pregnant mother. But most of the time, there is no clear reason for the heart defect.
Diagnosis of Congenital Heart Disease (CHD)
In some cases, congenital heart disease can be diagnosed in babies before birth with fetal echocardiograms. After birth, certain defects in newborns will be diagnosed due to newborn screening. Other ways to diagnose heart defects in children include ultrasounds (echocardiogram of the heart), chest X-rays, or electrocardiograms (EKG). After the diagnosis of congenital heart disease, a pediatric heart specialist may decide to obtain more information about the heart defect using MRI or cardiac catheterization.
Treatments of Congenital Heart Disease (CHD)
Congenital heart disease can range from simple to very complex and will affect children in different ways. As a result, some defects will be simply watched by the child’s heart doctor and can be managed with medicines. Some of these defects become smaller or resolve as the child grows.
Other, more complex defects will require cardiac surgery — as early as the first week of life, or during other times in childhood. Some children with complex conditions will require multiple surgeries in their life. Some examples of these multiple surgeries include Norwood, Hemi-Fontan, and Fontan. There are other heart defects that can be treated with cardiac catheterization.
Long term outlook for Congenital Heart Disease (CHD) Patients
The outlook for children with congenital heart disease depends on the type of heart defect and if the child has any other birth defects. Overall, the survival for children with CHD has improved in the past 25 years. Most, if not all, children with congenital heart disease will need to be followed throughout their childhood by a pediatric heart specialist. As these children grow up, many will then be followed by specialists in adult congenital heart disease.