Imagine being born with a heart that has its own unique blueprint—one that beats a little differently from others. That’s the reality for people with congenital heart disease (CHD), a condition where the heart’s structure doesn’t develop as expected before birth. Some are mild and remain undetected for years, while others require immediate medical attention. Many affected by covered conditions, however, live full and active lives owing to medical advancements. 

So, what is CHD, and how does it affect those born with it? Let us delve into it and understand the causes, effects, treatments and more.

Introduction to Congenital Heart Disease

Congenital heart disease (CHD) is an umbrella term that describes structural defects of the heart arising from birth. These defects may cause an abnormal flow of blood from the heart, leading to inadequate pumping action by the heart to circulate blood through the body. While the severity of the condition can vary, it is a critical aspect of understanding and treating CHD.

Congenital Heart Disease Classifications

Not all CHDs are the same. Some cause a lack of oxygen in the blood (cyanotic CHD), while others disrupt blood flow without affecting oxygen levels (Acyanotic CHD). Let’s break down the types of Congenital Heart Diseases:

Cyanotic Congenital Heart Disease

This refers to conditions where there is a lack of oxygen in the blood. This leads to cyanosis, a bluish tint on the skin. Examples include:

  • Tetralogy of Fallot: This involves a combination of four heart defects.
  • Transposition of the Great Arteries: This occurs when the arteries are connected incorrectly to the heart.
  • Tricuspid Atresia: A condition in which the tricuspid valve is missing or underdeveloped.
  • Ebstein's Anomaly: A condition in which the tricuspid valve is malformed.

Acyanotic Congenital Heart Disease

In this form, oxygen levels typically remain normal, but blood flow may still be abnormal. Examples include:

  • Ventricular Septal Defects (VSD): This is a hole between the ventricles.
  • Atrial Septal Defects (ASD): A hole between the atria.
  • Patent Ductus Arteriosus (PDA): An opening between the aorta and pulmonary artery that doesn't close after birth.
  • Coarctation of the Aorta: Narrowing of the Aorta.
  • Pulmonary Stenosis: Narrowing of the pulmonary valve.
  • Aortic Stenosis: Narrowing of the aortic valve.

Critical Congenital Heart Disease

It is a condition of high severity demanding emergent medical intervention. The expediency of diagnosis is imperative here.

Congenital Heart Disease Risk Factors and Causes

Doctors don’t always know why CHD happens. While the exact cause of congenital heart disease is unknown, several factors can predispose its occurrence:

  • Genetics: A family history of congenital heart disease increases the likelihood of having a heart-defective baby. This, however, does not necessarily mean that it is inherited.
  • Diabetes: Both pre-existing and gestational diabetes raise the risk.
  • Infections while Pregnant: Rubella can be a factor associated with an increase in risk.
  • Certain Drugs: Some drugs, most especially during the first trimester, can present a risk.
  • Environmental Factors: Consumption of alcohol, tobacco, and/or certain drugs can also have a negative effect on fetal heart development. 
  • Chromosomal Abnormalities: Conditions such as Down Syndrome, Turner Syndrome, and DiGeorge Syndrome are often associated with congenital heart defects.
  • Lifestyle Choices: Choices such as the diet and weight of a pregnant woman.

Signs and Symptoms of Congenital Heart Disease

Symptoms of congenital heart disease depend upon the type and severity of the defect. Symptoms may develop very soon after birth in a few cases and, in others, may happen later in life. Commonly observed signs are: 

  • Rapid Breathing: Rapid breathing or shortness of breath.
  • Poor Weight Gain: Poor weight gain or difficulty feeding in infants is a common symptom for babies, as they have a hard time feeding.
  • Fatigue and Low Energy Levels: Both children and adults experience this.
  • Cyanosis (bluish skin): This is more common in cyanotic heart disease.
  • Swelling: Swelling in the legs, abdomen, or around the eyes is an indicator that something is wrong.
  • Heart Murmurs: Often heard during physical exams, they may be associated with heart defects.
  • Congenital Heart Disease Symptoms in Adults: It may include arrhythmias (irregular heartbeat), dizziness, high blood pressure, chest pain, exercise intolerance and fainting (syncope)

How is Congenital Heart Disease Diagnosed?

Early diagnosis is crucial for managing congenital heart disease effectively. Doctors use a variety of tests, including:

  • Echocardiogram: An ultrasound of the heart that helps detect structural defects. It can also measure the heart's pumping function.
  • Electrocardiogram (ECG): Measures the heart's electrical activity and can detect abnormal heart rhythms.
  • MRI and CT Scans: Provide detailed images of the heart and blood vessels.
  • Cardiac Catheterization: This is an invasive procedure where a thin, flexible tube is inserted into a blood vessel, usually in the leg or arm, and guided to the heart. It allows doctors to measure blood pressure and oxygen levels in the heart chambers and blood vessels and to visualise the heart's structure.
  • Pulse Oximetry: Checks oxygen levels in the blood.
  • Genetic Testing: Determines whether a genetic disorder is linked to the defect.
  • Fetal Echocardiogram: This is done during pregnancy to detect heart defects in the developing fetus.
  • Chest X-rays: Can show the size and shape of the heart and lungs, as well as the presence of extra fluid in the lungs.

Treatment Options

Here’s the great news—medical advancements have dramatically improved life expectancy for people with CHD. Many individuals now live full, active lives thanks to early detection and proper treatment. However, a few factors influence long-term health:

Medication

Medication to manage symptoms, prevent complications, and reduce the workload of the heart: such medications may include 

  • Diuretics remove excess fluid or reduce swelling. 
  • ACE Inhibitors and ARBs: To lower blood pressure and reduce the workload on the heart.
  • Beta-blockers: To slow the heart rate and lower blood pressure.
  • Anticoagulants: To prevent blood clots.
  • Antiarrhythmics: To regulate irregular heartbeats.

Catheter-based Procedures

A minimally invasive way to repair defects without open-heart surgery. These procedures involve inserting a catheter into a blood vessel and guiding it to the heart. Procedures may include:

Surgery

Required for more complex heart defects, such as critical congenital heart disease.

  • Open-Heart Surgery: Involves making an incision in the chest and stopping the heart to repair the defect.
  • Heart Valve Repair or Replacement: This may be necessary for damaged or malformed valves.
  • Fontan Procedure: A surgical procedure for complex heart defects.
  • Heart Transplant: In rare cases where the heart defect is too severe for repair.
  • Pacemakers and Implantable Cardioverter-Defibrillators (ICDs): Pacemakers and ICD may be needed to regulate the heartbeat in people with arrhythmias.

pacemaker

Congenital Heart Disease Life Expectancy and Outlook

The life expectancy of individuals with CHD has improved significantly over the years. The combination of treatment innovations and early detection has allowed others to live a normal and rewarding life. Some of the other points that affect around-the-clock life expectancy include:

  • Type and severity of heart defect are variable.
  • Timing of the medical supply (care) needs to be informed as early as possible.
  • Avoiding smoking and excessive alcohol consumption.
  • Routine physical exercise. 
  • Control over what goes into the body. 
  • Control over smoking and drinking habits.
  • Keeping fit. 
  • Regular doctor visits. 

Once treated properly, a person can manage the condition of cyanotic heart disease correctly, thus considerably reducing the chance of developing complications. The prognosis is relatively good, and many families of these children lead full, normal lives; however, they remain aware of the complications that might arise and seek consultation with their doctor whenever new symptoms occur. 

Congenital heart disease is a lifelong condition, but it doesn’t have to define someone’s future. Thanks to modern medicine, early intervention, and lifestyle adjustments, people with CHD can thrive. Whether it’s you or a loved one, knowledge is power—understanding the condition, staying proactive with medical care, and making heart-healthy choices can make all the difference.

Dr. Manjinder Sandhu for Heart Health

If you or a loved one has been diagnosed with congenital heart disease—or if you simply want expert guidance on heart health—Dr. Manjinder Sandhu is here to help. With years of experience in cardiology and a commitment to patient-centred care, he ensures you get the best possible treatment tailored to your needs.

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Max Hospital, B Block, Sushant Lok 1, Near Huda City Centre MF Husain Marg Near Huda City Centre, Sector 43, Gurugram, Haryana 122001

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Max Smart Super Speciality Hospital, Press Enclave Marg, Saket District Centre, Saket, New Delhi, Delhi 110017

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