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Congenital Heart Disease: Symptoms, Causes, & Diagnosis


Congenital heart disease is a common term used for many birth defects (congenital disabilities) that affect regular heart functioning.

The word congenital means a condition that is present from birth. It is the most common type/form of congenital disability, almost affecting 1 in 100 babies in the UK. Congenital heart defects can affect the following body organs;

There are several types of heart defects, and CHD may vary from mild to moderate. Babies with critical congenital heart disease need surgery in the very first year of life.

Types of Congenital heart disease

Following are the different types of congenital heart disease;

1. Atrial septal defect in the heart

A hole in the wall separating the heart’s upper chamber that can vary in size and may be closed on its own or require surgery.

2. Atrioventricular septal defect

In this type of defect, holes may not work correctly between the right and left sides of the heart and the valves that control blood flow between chambers.

3. Ventricular septal defect

A congenital disability in the heart in which a hole appears in the heart wall that separates the two lower chambers of the heart. It is also called the ventricular septum.

Critical types of  Congenital heart disease

Following are the different critical types of congenital heart disease;

1. Coarctation of the aorta

Narrowing and constriction in the aorta force the heart to pump more challenging to get enough blood. The aorta is the body’s largest artery.

2. Double-outlet right ventricle

It appears when there is a wrong aorta connection with ventricles.

3. D-transposition of the great arteries

It occurs when two main arteries that carry blood throughout the heart (pulmonary artery and aorta) are switched together. It may require surgery or other procedures.

4. Ebstein anomaly

It is a rare heart defect. In this condition, the tricuspid valve is placed incorrectly, and blood may leak from the valves, making them inefficient.

5. Hypoplastic left heart syndrome

This condition refers to the wrong development of the left side of the heart affecting the normal blood flow through it.

6. Interrupted aortic arch

In this defect, the aorta doesn’t form correctly, which decreases the aorta’s oxygen-carrying capacity.

7. Pulmonary atresia

In this defect, the heart valves that control blood flow from the heart to the lungs don’t form correctly.

8. Single ventricle

In this defect, one or two ventricles of the heart have inefficient working. A chamber may be missing a valve.

9. Tetralogy of Fallot

In this defect, the baby’s heart doesn’t grow and develop properly during the pregnancy. It affects the normal blood flow of the heart.

10. Total anomalous pulmonary venous return

In this defect, oxygen-rich blood doesn’t return from the lungs to the heart’s left atrium.

11. Tricuspid atresia

Valves that control the blood flow from the heart’s right upper chamber to the right lower chamber don’t develop well or completely.

12. Truncus arteriosus

It refers to the poor connection between the aorta and the pulmonary artery.

Symptoms of Congenital Heart Disease

Signs and symptoms of congenital heart disease can vary according to the severity and type of the defect. The following symptoms are commonly observed and found;

  • Fats and trouble breathing
  • Blue-tinted lips and nails
  • Sleepiness
  • Tiredness
  • Low birth weight
  • Chest pain
  • Delayed growth
  • Feeding difficulties
  • Abnormal heart rhythms
  • Dizziness
  • Fainting
  • Fatigue
  • Swelling

Causes of Congenital heart disease

The defect can interfere with the normal blood flow through blood vessels of the heart, which can also affect other various functions of the body. Suspected causes of congenital heart defect are;

  • Genetics (family history).
  • Using certain drugs during pregnancy.
  • Using alcohol during pregnancy can increase the risk of heart defects.
  • Viral infection during the first trimester of pregnancy.

Diagnosis of Congenital heart disease

CHDs can be diagnosed/detected during pregnancy using a special ultrasound known as a fetal echocardiogram. An echocardiogram creates a clear picture of the developing baby’s heart.

If a congenital heart disease is seen by echocardiogram, doctors can do several tests for further diagnosis.

Risk factors of Congenital heart disease

Some environmental and genetic factors increase the risk of CHD, including;

  • Genes
  • German measles
  • Medications
  • Alcohol
  • Poor diet

Complications of Congenital heart disease

Complications might be developed after years of treatment, including;

Treatment of Congenital heart disease

Treatment of CHDs can vary according to the type and severity of the defect. Some affected children and infants need one or more surgeries to repair the blood vessels or heart.

1. Cardio Catheterization

Some infants can be treated without surgeries by using a procedure/treatment called cardiac catheterization. In this procedure, a long tube/catheter is used to treat the blood vessels.

Doctors can do measurements, tests, and pictures and then repair the heart. Sometimes the heart can’t be fully repaired by these procedures, but they can improve blood flow and functioning of the heart.


Many people with congenital heart disease cannot be cured completely, even if their heart defects have been repaired.

2. Medications

Several medicines are used to treat heart defects and improve their efficiency. Moreover, medicines can also prevent blood clots and control irregular heartbeat.

3. Implantable heart devices

Pacemakers and implantable cardioverter defibrillators are used to treat congenital heart defects. Pacemakers regulate the heart rate, and an implantable cardioverter-defibrillator is used to correct irregular heartbeats.

4. Open-heart surgery

If a cardio catheter procedure is not enough to treat the heart defects, it may need surgery. A surgeon can perform open-heart surgery too;

5. Heart transplant

In some cases, a heart transplant method is needed where it’s tough to treat congenital heart defects. In this procedure, a child’s defected heart is replaced by a healthy heart.

Prevention of Congenital heart disease

Here are some precautions that lower the risk of congenital heart defects in the newborn baby. Precautions for pregnant women or women who plan a pregnancy are as follows;

  • Discuss with your doctor over-the-counter medicines during pregnancy.
  • If you have diabetes, control your blood sugar level before becoming pregnant and manage diabetes during pregnancy.
  • Avoid diseases like rubella and German measles if you weren’t vaccinated.
  • Ask your doctor for genetic screening if you have a family history of congenital heart defects.
  • Avoid drinking alcohol during pregnancy. 


  • https://www.nhs.uk/conditions/congenital-heart-disease/ retrieved on April 09, 2022.
  • https://www.cdc.gov/ncbddd/heartdefects/facts.html retrieved on April 09, 2022.
  • https://www.healthline.com/health/congenital-heart-disease retrieved on April 09, 2022.
  • https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-causes/syc-20355456 retrieved on April 09, 2022.
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