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What is Congenital Heart Disease? Types, Causes, Diagnosis, and Treatment


Congenital heart disease is a heart defect that occurs during fetal development. The defects can affect the heart muscle, valves, chambers, or arteries. Sometimes it can be detected before the baby is born, while other times, it is not identified until adulthood. Symptoms range from mild to life-threatening.

About Congenital Heart Disease

Congenital heart disease (CHD) is also called a congenital heart defect. The terms are used interchangeably, but since CHD is a malformation of the heart's structure and not a disease, it is more accurate to call it a heart defect.

The structural problems of a CHD can cause abnormal blood flow through the heart or affect the way the heart works. They can affect the heart muscle, chambers, valves, or arteries. CHD is the most common birth defect. In the United States, a CHD occurs in about 1% of live births. On occasion, more than one defect can be present.

Types

There are many types of CHD, including those described as critical. Of all children born with congenital heart disease, 1 in 4 has a critical congenital heart defect and will require surgery or another procedure before their first birthday.

Critical:

  • Coarctation of the aorta
  • Double-outlet right ventricle (DORV)
  • d-Transposition of the great arteries
  • Ebstein anomaly
  • Hypoplastic left heart syndrome
  • Interrupted aortic arch
  • Pulmonary atresia
  • Single ventricle
  • Tetralogy of Fallot
  • Total anomalous pulmonary venous return (TAPVR)
  • Tricuspid atresia
  • Truncus arteriosus

Other examples of CHD include:

  • Anomalous Left Coronary Artery from the Pulmonary Artery
  • Atrial septal defect (ASD)
  • Atrioventricular canal defect
  • Aortopulmonary window
  • Bicuspid aortic valve
  • Congenital mitral valve anomalies
  • Coronary artery fistula
  • Eisenmenger syndrome
  • Hemitruncus
  • Kabuki Syndrome
  • Long QT syndrome
  • Partial anomalous pulmonary venous return
  • Patent ductus arteriosus (PDA)
  • Patent foramen ovale
  • Transposition of the great arteries
  • Vascular rings
  • Ventricular septal defect (VSD)
  • Wolff-Parkinson-White (WPW) syndrome

Causes

The cause of congenital heart disease is not always readily known. Some are inherited and passed down from the parents or grandparents. If you or one of your parents had a CHD, your child has a higher risk of developing one.

Others occur from an illness the mother had while pregnant with the child, such as diabetes, Rubella, or certain viruses. The mother's diet or lifestyle during pregnancy can affect her developing baby as well; alcohol, smoking, or certain medications during pregnancy can increase the risk of CHD.

Certain chromosomal, or genetic, abnormalities carry an increased risk for heart defects; for example, a fetus with Down syndrome has an increased chance of developing certain heart defects.

Symptoms

Symptoms will vary based on the type, location, and defect severity. They may also be different if more than one defect is present. Some symptoms may be evident before the baby is born, and some may not show up until later in life.

Common symptoms seen in infants include:

  • Bluish tint to the skin, lips, and nails
  • Difficulty breathing or rapid breathing
  • Tiring quickly when feeding
  • Sleepiness

Common symptoms in adults include:

  • Heart arrhythmias
  • Heart murmur (unusual heart sounds)
  • Bluish tint to the skin, lips, and nails
  • Fatigue with activity
  • Shortness of breath
  • Swelling in the extremities

Diagnosing Congenital Heart Disease

Sometimes a CHD can be diagnosed using a fetal echocardiogram, an ultrasound that can visualize the baby's heart while still inside the uterus.

After the baby is born until adulthood, an echocardiogram, x-ray, or MRI can diagnose congenital heart disease.

Complications of Congenital Heart Disease

Congenital heart disease can range from mild to severe, depending on how many defects are present and how extensive each is.

Complications of CHD may include:

  • Arrhythmias (irregular heart rhythms)
  • Cardiomyopathy (problems with the heart muscle itself)
  • Endocarditis, heart infection
  • Heart failure
  • Pulmonary hypertension (high blood pressure in the artery that leads from the heart to the lungs)
  • Stroke
  • Death

Treatment of Congenital Heart Disease

Most people with congenital heart disease will need medical care for their entire life, even if it is just visiting their cardiologist at set intervals to follow up on their heart's health.

Treatment depends on the location, severity, and type of defect present.

  • Mild defects may only need monitoring or medications to control symptoms.
  • More severe defects may require medical procedures, such as cardiac catheterization, or one or more surgeries to repair the defect.
  • Critical congenital heart defects will require surgery or another procedure before a baby’s first birthday.
  • In very severe cases, the infant may need a heart transplant.

When to talk to your doctor

It’s important to regularly speak with your doctor if:

  • You are pregnant and have a congenital heart defect or family history of them. Your doctor can run tests on your baby before it is born to check for CHD. If one is detected, early monitoring and treatment can make a big difference.
  • You have a CHD and plan to become pregnant, talk to your cardiologist to determine if it is safe to put the added strain of pregnancy on your heart.
  • You were diagnosed with a congenital heart defect as an infant or child.
  • You are having new or troublesome symptoms.
  • You are having chest pain or difficulty breathing, call 9-1-1.

Key take-aways

  • Congenital heart disease is a broad term referring to heart malformations occurring during fetal development.
  • Some symptoms may be evident before the baby is born, and some may not show up until later in life.
  • Symptoms vary, depending on the type, location, and severity of the defect. They can be mild to severe, even fatal.
  • Treatment of CHD also varies based upon the severity of the CHD. A person with a congenital heart defect may require frequent monitoring, medication, surgery, or even a heart transplant.

References:

American Heart Association. (2022). About Congenital Heart Defects.

Boston Children's Hospital. (2022). Conditions and Treatments.

CDC. (2022). What are Congenital Heart Defects?

Mayo Clinic. (2022). Congenital heart disease in adults - Symptoms and causes.

National Heart, Lung, and Blood Institute. (2022). Congenital Heart Defects - What are Congenital Heart Defects?

Sun, RongRong, et al. (2015). Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

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