What is Congenital Heart Disease (CHD)

The human heart is a remarkably intricate system. However, sometimes, this intricate system
doesn’t develop as it should, leading to congenital heart disease (CHD). Congenital heart
disease refers to a group of structural and functional abnormalities in the heart that are present
at birth. In this blog, we will delve into the world of congenital heart disease, exploring its
causes, symptoms and treatment options.

What Causes Congenital Heart Disease?

Congenital heart disease occurs during fetal development when the heart does not form
properly. While the exact cause of CHD is often unknown, several factors can contribute to its

  • Genetic Factors: A family history of heart defects can increase the risk of CHD. Some
    genetic syndromes, like Down Syndrome or Turner Syndrome, are also associated with
    an increased risk of CHD.
  • Environmental Factors: Exposure to certain medications, infections (such as rubella)
    during pregnancy, or maternal health conditions like diabetes can increase the risk of
    CHD in a baby.
  • Chromosomal Abnormalities: Changes in the number or structure of chromosomes can
    lead to heart defects.
  • Unknown Factors: In many cases, the cause remains unknown, suggesting a complex
    interplay of genetic and environmental factors.
    Common Types of Congenital Heart Disease:
    Congenital heart disease can take various forms, each with its unique characteristics. Here are
    some common types:
  • Atrial Septal Defect (ASD): This defect involves a hole in the wall (septum) that
    separates the heart’s upper chambers (atria). It allows oxygen-rich and oxygen-poor
    blood to mix.
  • Ventricular Septal Defect (VSD): A hole in the septum between the heart’s lower
    chambers (ventricles), allowing blood to flow between them can lead to VSD.
  • Tetralogy of Fallot: This complex congenital heart defect includes several abnormalities,
    such as VSD, pulmonary stenosis, right ventricular hypertrophy and an overriding aorta.
  • Transposition of the Great Arteries: In this condition, the aorta and pulmonary artery are
    switched, causing oxygen-poor blood to be pumped back into the body.
  • Coarctation of the Aorta: A narrowing or constriction in the aorta which impedes blood
    flow to the lower part of the body.
    Symptoms of Congenital Heart Disease:

The symptoms of CHD vary depending on the type and severity of the defect. Some common
signs and symptoms include:

  • Cyanosis (bluish tint to the skin, lips, or nails) due to inadequate oxygen supply.
  • Rapid breathing or shortness of breath, especially during feeding or physical activity.
  • Poor weight gain or failure to thrive in infants.
  • Fatigue or easily becoming tired during activities.
  • Swelling in the legs, ankles and feet due to fluid retention.
    Diagnosis and Treatment:
    Congenital heart disease is typically diagnosed through a combination of prenatal screening,
    physical exams and imaging tests such as echocardiography and cardiac catheterization.
    Treatment options depend on the specific type and severity of the defect but may include:
  • Medications: Some medications can help manage symptoms and improve heart
  • Catheter Procedures: Minimally invasive procedures can repair certain heart defects
    using catheters inserted through blood vessels.
  • Surgery: Complex heart defects often require open-heart surgery to correct the
  • Heart Transplant: In severe cases where the heart cannot be repaired, a heart transplant
    may be necessary.
    Congenital heart disease is a challenging condition that affects thousands of infants and
    children worldwide. Early diagnosis and appropriate treatment are crucial for improving the
    quality of life for those born with CHD. As medical advancements continue, the prognosis for
    individuals with CHD continues to improve, offering hope for a healthier future.