Congenital Heart Defect - Causes, Symptoms, Diagnosis, Prevention

Congenital Heart Defect

Dr.Sameer Dani profile Authored by Dr.Sameer Dani on 18 Nov 2014 - 15:27.

A congenital heart defect is a birth defect associated with the heart structure, including the protective wall of the heart (pericardium), heart valves, arteries and veins. Abnormality in any part of the heart structure mentioned above alters the normal blood flow through the heart by either slowing down the blood flow, blocking the flow completely or by diverting the flow to a wrong destination.  It is one of the most common birth defects that accounts for death in almost 8 out of every 1000 neonates.

These heart defects range from simple to complex, where in, simple defects go undiagnosed as they do not show any symptoms but complex defects have severe impact on health.

Types of Congenital Heart Defects:

The most common types of congenital heart defects and their consequences are:

Defect in heart valves: Narrowing of the valves or blockage that restricts the blood flow. Another defect of valves may cause backward leaking of blood as they can’t close properly.

Atrial and ventricular septal defects :Presence of a hole between the different chambers of the heart. It may cause mixing of the blood from the left (oxygenated blood) and right chambers (deoxygenated blood).

There is no established cause of congenital heart defects till date. However, several factors are believed to be associated with heart defects and these can also be considered as risk factors, which are:

  • Several drugs consumed during pregnancy, including retinoic acid (prescribed for acne).
  • Exposure to certain chemicals during pregnancy
  • Consumption of excessive alcohol or illegal drugs by expecting mothers
  • Certain infections during the initial pregnancy. Ex. Rubella infection
  • Poor management of diabetes, especially during pregnancy
  • Gene alteration in child causing Down syndrome
  • The risk is almost double if any one of the parent or sibling has congenital heart defect.

As discussed, simple heart defects may get fixed on its own without showing any sign or symptom. It should also be noted that, though it is a birth defect, it may not show any sign or symptom until the child grows quite older.

However, complex defects are severe with signs symptoms such as:.

  • Altered breathing, too fast with difficulty in breathing
  • Bluish discoloration of the skin, toe and nails (cyanosis)
  • Fatigue
  • Alteration in normal blood circulation
  • Difficulty in feeding
  • Low birth weight
  • Restricted growth
  • Fainting due to lack of oxygen
  • Chest Pain
  • Swelling
  • Tiredness

When to see a doctor?

Consult your doctor immediately if:

  • You have symptoms of infection during pregnancy like fever, rashes, or sore throat.
  • If a newborn is resistant to feeding
  • The child has chest pain
  • Skin discoloration (bluish) including nails and toes and swelling
  • Retarded child growth

In most of the cases, congenital heart disease is diagnosed in ultrasounds during pregnancy. In rest of the cases, the heart defect can be detected either soon after the birth or later in life. While in the womb, the doctor suspects congenital heart defect based on the heart murmur that is heard and other examinations which identify and confirm the defect in the heart. Further investigations may include Echocardiogram or Transesophageal Echocardiogram (TEE), Cardiac catheterization, X-ray, ECG and MRIdepend upon the type of murmur produced by the fetus heart.

Diagnosis of suspected heart defect in new borns or adults:

Physical Exam: It includes physical examination and other symptoms like bluish discoloration, retarded growth or signs of heart failure.

Echocardiograph: Records moving picture of the heart with the help of ultrasound waves. This test is done to unborn babies with suspected heart defect (fetal echo).

Electrocardiogram: Records the heart’s activity in terms of electrical impulses which signifies the functioning of the heart. It is mainly used to identify the enlargement of the heart chambers.

X-ray: To detect any defect of the heart and blood flow to the lungs.

Pulse Oximetry: To estimate the amount of oxygen in the blood with the help of sensor that is often attached to the finger.

Cardiac Catheterization: Observes the blood flowing through the heart and veins and also measures oxygen pressure in the heart. It is performed with the help of a catheter that is inserted into the vein going to the heart.

In most cases those who don’t develop symptoms, usually don’t need any treatment but the rest need effective and timely approach to save the life. Treatment approaches may include various medicines, catheter or surgical procedures, or may be a heart transplant. The selection of right approach often involves age, size and overall health.

Drugs and medications: Some patients overcome defective problems with just medications while some may need additional procedures.

Catheter procedures: It is easy and a quick procedure to repair the heart defect with the help of thin, flexible tube (catheter) inserted in the heart. It is often used to treat simple heart defects like atrial septal defect (ASD), pulmonary valve stenosis, etc.

Surgical procedures: When a catheter procedure fails to fix the defect, the doctor may choose a surgical option which is often an open heart surgery. Open heart surgery aims to:

  • Close the holes in the heart
  • Correct heart valve defect
  • Replace the valves
  • Widen arteries and remove blockage
  • Correct the location of blood vessels in the heart

In most of the cases,the defect is repaired during open heart surgery, buta few may need more surgeries, over time.


Complications associated with congenital heart disease may include:

  • Pulmonary hypertension
  • Various infections affecting the heart
  • Stroke
  • Heart failure

Heart transplant: Rarely some may have multiple defects in the heart that is too complex to repair and may demand a heart transplant.

Unfortunately, treatment of congenital heart disease does not assure complete cure. So defects treated in childhood may reappear or invite some other problems in adulthood. Especially, scar tissue developed during the initial repair may lead to arrhythmias.

Alternative medicines:Heart defects mostly require procedures to correct them; no alternative treatment can assure the cure. However, many approaches including, herbs, Ayurveda, yogasanas, etc. may help to keep the heart healthy.

Diet recommendations:

Those who have heart defect often needs extra calories as they get tired easily.To meet the need, it is important to take healthy diet. Here are the recommendations:

  • Eating plenty of fresh fruits and vegetables
  • Including cereals in your diet
  • Including dairy products like milk, cheese, curd and so on
  • Eating fish and chicken
  • Including nuts and pulses in your diet plan
  • Avoiding foods rich in fat (processed foods, fried foods, and snacks)
  • Avoiding high salt diet

None of the preventive measures can work once the baby is born. So, all the measures that can prevent the congenital heart disease should be implemented during the pregnancy aspart of good prenatal care. These may include:

  • Avoiding alcohol
  • Avoiding smoking
  • Taking medications prescribed by doctor
  • Go for regular / periodic heart health checkup
  • Keep the blood sugar under control
  • Going for genetic screening
  • Good dental care
*Disclaimer This is not medical advice. The content is for educational purposes only. Please contact your doctor for any health care issues.