Congenital Heart Defect

Overview of Congenital Heart Defect

Congenital Heart Defect Meaning in Urdu

یہ ایک پیدائشی بیماری ہے جو کہ دل کو متاثر کرتی ہے۔ اس بیماری کی وجہ سے نومولود کے دل کی ساخت متاثر ہوتی ہے۔ اس کے علاوہ دل کی خون پمپ کرنے کی صلاحیت میں بھی فرق آتا ہے۔ نومولود بچوں میں اس بیماری کی علامات مختلف ہوتی ہیں، تاہم کئی بچوں میں یہ بیماری ہونٹوں یا ناخنوں کے نیلے پن، سانس لینے میں مشکلات، تھکاوٹ، اور غنودگی کی وجہ بن سکتی ہے۔ کچھ بچوں میں اس بیماری کی تشخیص الٹرا ساؤنڈ کے ذریعے ماں کے پیٹ میں ہی ہو جاتی ہے۔ کچھ بچوں کو اس بیماری سے نجات حاصل کرنے کے لیے سرجری کی ضرورت ہوتی ہے جب کہ کئی بچوں میں دوسرے طریقہ علاج کی مدد سے اسے کنٹرول کرنے کی کوشش کی جاتی ہے۔

Congenital Heart Defect Meaning

A congenital heart defect (CHD) is a heart abnormality that is present at birth. It happens due to structural problems with the heart or blood vessels near the heart that occur during fetal development. The severity of CHD can vary greatly. Some babies have mild CHD that may not cause symptoms or require treatment, while others have severe CHD that can be life-threatening and require immediate medical attention.

Prevalence of Congenital Heart Defect:

Congenital Heart Defect is the most common birth anomaly, affecting approximately 1 in every 100 babies born worldwide and accounting for one-third of all congenital anomalies. In Pakistan, the estimated prevalence of Congenital Heart Disease is 11/1000

Signs and Symptoms of Congenital Heart Defect

Congenital heart defect symptoms depend on the type and severity of the defect. Some common symptoms of congenital heart defects include:

  • A bluish tint to the skin, lips, and nails (cyanosis) – It is caused by a lack of oxygen in the blood.
  • Rapid breathing or shortness of breath – It can be a sign of heart failure or other complications.
  • Fatigue and Weakness – This is a sign that the heart cannot pump enough blood to meet the body's needs.
  • Poor feeding or No weight gain – Infants with congenital heart defects may have difficulty feeding and gaining weight at a normal ratio. 
  • Sweating – Infants with congenital heart defects may sweat more than normal, especially during feedings.
  • Swelling – Congenital heart defects can cause fluid to build up in the body, leading to swelling in the legs, abdomen, or other body parts. 
  • Abnormal heart rhythm – Some congenital heart defects can cause an irregular heart rhythm, leading to palpitations or fainting.

It's important to note that not all congenital heart defects cause symptoms, and some defects may not get detected until later in life.

Types of Congenital Heart Defect

There are many congenital heart defect types, which are structural abnormalities of the heart present at birth. Some common types of congenital heart defects include:

  • Atrial Septal Defect (ASD) - a hole in the wall between the two upper chambers of the heart
  • Ventricular Septal Defect (VSD) - a hole in the heart wall between the two lower chambers of the heart
  • Patent Ductus Arteriosus (PDA) - a blood vessel that normally closes after birth and remains open in PDA, causing too much blood to flow to the lungs
  • Tetralogy of Fallot - a combination of four heart defects that result in decreased oxygen flow to the body
  • Transposition of the Great Arteries - the two main blood vessels leaving the heart get switched, causing oxygen-poor blood to get pumped into the body
  • Coarctation of the Aorta - a narrowing of the aorta, which can cause high blood pressure and heart damage
  • Hypoplastic Left Heart Syndrome - the left side of the heart is underdeveloped, leading to poor blood flow and cardiac arrest.
  • Aortic Stenosis - a narrowing of the aortic valve, which can lead to heart failure if severe
  • Pulmonary Valve Stenosis - a narrowing of the pulmonary valve, which can lead to breathing difficulties and heart failure if severe

The specific type and severity of the defect will determine the course of treatment.

Causes of Congenital Heart Defect

The exact causes of CHDs remain unknown, but several factors can increase the risk of developing these conditions. Some of the Congenital Heart Defects causes include:

  • Genetics: CHDs can occur due to inherited genetic factors. Certain genetic disorders, such as Down Syndrome, Turner Syndrome, and Marfan Syndrome, are associated with a higher risk of CHDs.
  • Environmental Factors: Exposure to certain environmental factors during pregnancy, such as alcohol, tobacco smoke, and some medications, can increase the risk of CHDs.
  • Maternal Health: Certain maternal health conditions, such as poorly controlled diabetes, obesity, and infections during pregnancy, can increase the risk of CHDs.
  • Problems with Fetal Development: CHDs can occur when the heart doesn't develop properly during fetal development. It can happen due to several factors, including genetic mutations, environmental exposures, and problems with blood flow in the developing fetus.
  • Unknown Factors: In many cases, the exact cause of CHD remains unknown. However, researchers continue to study these conditions to identify new causes and potential treatments.

Risk Factors of Congenital Heart Defect

Some of the congenital heart defect risk factors include:

  • Genetics: Certain genetic conditions can increase the risk of CHD, such as Down syndrome, Turner syndrome, and Marfan syndrome.
  • Environmental factors: Exposure to certain chemicals or toxins during pregnancy, such as alcohol, tobacco, and certain medications, can increase the risk of CHD.
  • Maternal health: Maternal health conditions, such as diabetes, lupus, and obesity, have been associated with an increased risk of CHD.
  • Infections during pregnancy: Certain infections during pregnancy, such as rubella, cytomegalovirus, and toxoplasmosis, can increase the risk of CHD.
  • Age: Women having children at an older age may be at a higher risk of having a baby with CHD.
  • Poor Nutrition: A lack of essential nutrients during pregnancy like folic acid, can increase the risk of CHD.

Congenital Heart Defect Complications:

The complications of CHD can vary depending on the type and severity of the defect. Here are some of the common complications:

  • Heart Failure: CHD can cause the heart to work harder than normal, leading to heart failure. It happens when the heart cannot pump enough blood to meet the body's needs.
  • Arrhythmias: CHD can cause abnormal heart rhythms or arrhythmias. These can range from mild to life-threatening.
  • Cyanosis: Cyanosis is a bluish discoloration of the skin, lips, and nails. It occurs when there is not enough oxygen in the blood. Some CHDs can cause cyanosis.
  • Stroke: CHD can increase the risk of stroke, particularly in people with certain types of defects, such as atrial septal defects or patent foramen ovale.
  • Pulmonary Hypertension: Some CHDs can cause pulmonary hypertension, which is high blood pressure in the blood vessels that supply the lungs. It can lead to heart failure and other complications.
  • Endocarditis: CHD can increase the risk of endocarditis, an infection of the lining of the heart and its valves.
  • Delayed Growth and Development: Infants and children with CHD may experience delayed growth and development due to poor oxygenation and increased energy expenditure.

It's important to note that not all people with CHD will experience complications, and the severity of complications can vary. Treatment and management of CHD can help reduce the risk of complications and improve outcomes.



It’s difficult to prevent all Congenital Heart Defects. However, some steps can reduce the risk of having a baby with CHD:

  • Get Prenatal Care: Attend regular prenatal appointments with your healthcare provider. It allows for early detection and treatment of any potential problems.
  • Avoid harmful substances: Avoid smoking, alcohol, and drugs during pregnancy because these can increase the risk of CHD.
  • Manage chronic health conditions: If you have diabetes, epilepsy, or other chronic health conditions, work closely with your healthcare provider to manage them during pregnancy.
  • Screen for infections: Certain infections during pregnancy, such as rubella or cytomegalovirus, can increase the risk of CHD. Get screened for these infections and take steps to avoid them.
  • Take folic acid: Taking folic acid before and during pregnancy can reduce the risk of certain CHDs.
  • Get genetic counseling: If you or your partner have a family history of CHD or other genetic conditions, consider getting genetic counseling before becoming pregnant.

It's important to remember that some CHDs cannot be prevented, even with these steps. However, by taking these measures, you can reduce your risk and increase your chances of having a healthy baby.



Congenital heart defects are usually diagnosed during pregnancy or soon after birth. Here are some diagnostic methods for congenital heart defects:

  • Fetal Ultrasound: This test is performed during pregnancy to check the heart of the developing fetus.
  • Echocardiogram: This test uses sound waves to produce images of the heart and its structures. It can be performed on newborns and children.
  • Electrocardiogram (ECG): This test records the electrical activity of the heart and can identify abnormalities in heart rhythms.
  • Chest X-ray: This test uses radiation to produce images of the heart and lungs and can help detect abnormalities in heart size and shape.
  • Cardiac Catheterization: This is an invasive test, that involves inserting a catheter into a blood vessel and guiding it to the heart. This procedure can help identify the type and severity of the congenital heart defect.
  • Magnetic Resonance Imaging (MRI): This test uses magnetic fields and radio waves to produce detailed images of the heart and its structures.

Specific diagnostic methods for congenital heart defects may vary depending on the individual case. Your doctor or Cardiologist will determine the best course of action based on your medical history, symptoms, and other factors.

Treatment of Congenital Heart Defect | When to Consult a Doctor

Congenital heart defect treatment depends on the specific type and severity of the defect. Some defects may not require treatment, while others may need medication, procedures, or surgery. The treatment goal is to improve symptoms, prevent complications, and improve the person's quality of life.

  • Medications: Some congenital heart defects are manageable with medication. Medications may help improve heart function, regulate heart rhythm, or prevent blood clots.
  • Procedures: Some defects can get treated with minimally invasive procedures. Examples include catheter-based procedures or interventions to close holes in the heart.
  • Surgery: Some defects may require surgery. Surgical procedures may involve repairing or replacing heart valves, closing holes in the heart, or rerouting blood vessels.
  • Heart Transplant: In some cases, a heart transplant may be necessary if the heart is severely damaged.
  • Regular Check-ups: People with congenital heart defects may require lifelong monitoring and treatment by a cardiologist to prevent complications and ensure that the heart is functioning properly.

It's essential to work closely with a healthcare provider to develop a treatment plan appropriate for the specific congenital heart defect. The healthcare provider may refer to a Cardiologist or a congenital heart disease specialist for further evaluation and management.