Congenital Heart Defect: Symptoms, Causes, and Diagnosis

Congenital Heart Defect or Congenital heart disease is a collective term refers to heart condition or abnormality present at birth. The condition can affect the heart valves, heart walls, blood vessels. These defects usually disturb the flow of blood. There are many types of Congenital Heart Defects, some of them are simple and cause no symptoms others are complex and cause life-threatening and serious symptoms. In most of the cases, the symptoms are visible in adulthood.

Though there are many types of Congenital Heart Defects, it can be broadly divided into the following types:

  • Defects of Heart Valves: In heart valve disease, the heart valves (i.e. tricuspid valve, bicuspid valve, pulmonary valve, and aortic valve) which are responsible for blood flow may leak or close up. This disturbs the heart’s ability to properly pump the blood.
  • Defects of Heart Walls: In this type of defect, the heart walls that exist between the lower and upper chambers and right and left sides of the heart may not properly develop. This causes backward blood flow into the heart or accumulation of build-up which leads to putting pressure on the heart and makes it difficult for the heart to follow normal blood flow. The condition may further cause high blood pressure.
  • Defects of Blood vessels: In these defects, the veins and arteries that help in carrying blood to the heart and to the body may not work properly. This can cause a lack of blood supply and further lead to many other health conditions.

Congenital Heart Defects can also be classified as:

  • Cyanotic Congenital Heart Disease: In this condition, the heart is not able to pump the blood properly. The problem causes low levels of oxygen in the blood.
  • Acyanotic Congenital Heart Disease: In this condition, the is unable to pump the blood. But the difference is that it doesn’t lower the oxygen levels.

Examples of Congenital Heart Defects

  • Bicuspid aortic valve
  • d-Transposition of the Great Arteries
  • Congenital mitral valve anomalies
  • Atrial septal defect
  • Coarctation of the aorta
  • Double-outlet right ventricle
  • Ebstein anomaly
  • Pulmonary atresia
  • Atrioventricular Septal Defect
  • Interrupted Aortic Arch
  • Eisenmenger syndrome
  • Patent ductus arteriosus
  • Atrioventricular canal defect
  • Long QT syndrome
  • Partial anomalous pulmonary venous return
  • Hypoplastic left heart syndrome
  • Patent foramen ovale
  • Pulmonary atresia with intact ventricular septum
  • Pulmonary atresia with ventricular septum defect
  • Pulmonary valve stenosis
  • Total anomalous pulmonary venous return
  • Truncus arteriosus
  • Transposition of the great arteries
  • Tricuspid atresia
  • Vascular rings
  • Tetralogy of Fallot
  • Wolff-Parkinson-White (WPW) syndrome
  • Ventricular septal defect (VSD)

Some Common Facts of Congenital Heart Disease

  • Congenital Heart Defects (CHD) are one of the most common types of birth defects, according to the CDC.
  • The condition affects the structural and functioning of child’s heart.
  • According to the Centers for Disease Control and Prevention reports, about 1 in 4 children have congenital Heart Disease.
  • According to the report, about 40,000 birth in the United States have CHD every year.
  • In most cases, the symptoms are visible in adulthood. Sometimes, it needs surgery to cure the problem and in some cases, it can be cured by prescribed treatments.

Causes of Congenital Heart Defects


Congenital heart disease because of the premature development of the heart’s structure. It usually disturbs the normal blood flow through the heart, which further leads to breathing problems. Though researchers are unable to tell the cause of premature heart development, the expected causes include:

  • Family history of heart defects or heart disease.
  • Following many drugs during pregnancy increases the risk of a heart defect in a child.
  • Taking harmful substances or alcohol during pregnancy also increases the chances of a heart defect in a child.
  • Females who suffer from viral infection during the first pregnancy trimester are at higher risk of having a child with a heart defect.
  • Conditions like Diabetes may also affect the development of the heart.

Complication of Congenital Heart Defects

Symptoms of Congenital Heart Defects


Usually, these defects don’t show any warning signs or symptoms. However, symptoms mostly occur later in adulthood. These symptoms include:

  • Irregular heart rhythms (arrhythmias)
  • A bluish tint to the lips, fingernails, and skin (cyanosis)
  • Breathlessness
  • Tiring due to exertion
  • Swelling of organ and body tissues (edema)
  • Low birth weight
  • Delayed growth
  • Chest pain
  • Dizziness
  • Fainting
  • Fatigue

Diagnosis of Congenital Heart Defects


To diagnose congenital heart disease or whether it is causing health conditions, the doctor will perform a physical examination and ask for medical history. He may also check the heartbeat or rhythm with the help of a stethoscope. Other tests include:

  • Electrocardiogram (ECG): This test is performed to determine the electrical activity of the heart. It is also helpful in determining if the heart is enlarged.
  • Chest X-ray: This helps in creating the images of the heart and lungs so that the doctor can evaluate the condition.
  • Echocardiogram. With the help of sound waves, doctors can able to see the images of the moving heart so that they can identify the problem
  • Transesophageal Echocardiogram: This test also uses sound waves and doctors usually perform this test to know the additional information that may not be identified with the help of Echocardiogram.
  • Pulse oximetry: This test helps to check the amount/ levels of oxygen is in the blood.
  • Exercise stress test: This test helps in determining the functioning of the heart while a person is working or exercising
  • Cardiac CT scan or MRI: This test is also performed to create the pictures of heart with the help of radio waves.


The Congenital Heart Defect is a serious condition where a child is born with some kind of heart defect. Though doctors examine and check for these type of possibilities at the time of birth, in many cases, the condition shows no symptoms. Further, the symptoms are visible in adulthood. This is why it is always advisable to go for regular checkups when the child is young. This is because the condition can be easily cured if it is diagnosed early.

FAQ About Congenital Heart Defect

Congenital Heart Defect can enhance the chances of developing several medical conditions. A few Congenital Heart Defects produce more blood flow to the lungs, increasing pressure and makes the heart work harder. This eventually weakens the heart muscle and sometimes causes heart failure. 

Heart development during pregnancy is referred to as the fetal growth of the human heart. This process begins with the development of two endocardial tubes that unite to form the tubular heart, also named as primitive heart tube. About 21 days after fertilization, the human embryonic heart starts beating. 

Here are some steps to prevent Congenital Heart Disease:

  • If you are pregnant, inform the doctor before the intake of any medicines.
  • Consult the doctor regarding the medicines or substances that can be harmful to the baby.
  • If you have diabetes, get the sugar level under control.

The common symptoms to detect if the child has any heart disease are:

  • Pale skin
  • Blue color around the lips 
  • Blue skin (cyanosis)
  • Difficulty in feeding
  • Poor growth
  • Fatigue
  • Shortness of breath

Treatment and medication for Congenital Heart Defects involve:

  • Cardiac catheterizations
  • Care options 
  • Surgical procedures 
  • Heart transplants
  • Physical activity 


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