Understanding Congenital Heart Disease: Causes, Symptoms, and Treatment

Posted April. 15, 2024 by Dr. Aniruddha Dharmadhikari

Congenital heart disease (CHD) refers to a range of structural defects in the heart that are present at birth. It is one of the most common types of birth defects, affecting approximately 1% of newborns worldwide. While the exact cause of CHD is often unknown, various factors, including genetic and environmental influences, can contribute to its development.

Causes:

The causes of congenital heart disease are diverse and can involve genetic, environmental, and multifactorial factors. Genetic factors play a significant role, with certain genetic conditions and chromosomal abnormalities increasing the risk of CHD. Environmental factors such as maternal infections, exposure to toxins during pregnancy, and maternal health conditions like diabetes can also contribute to the development of CHD. Additionally, certain lifestyle factors and medications taken during pregnancy may increase the risk.

Types of Congenital Heart Disease:

CHD encompasses a wide range of structural abnormalities in the heart, ranging from mild to severe. Some common types include:
Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Tetralogy of Fallot
Transposition of the Great Arteries
Coarctation of the Aorta
Hypoplastic Left Heart Syndrome
Each type of CHD involves specific defects in the heart's structure, leading to different symptoms and complications.

Symptoms:

The symptoms of congenital heart disease vary depending on the type and severity of the defect. In some cases, symptoms may be mild and go unnoticed for years, while in others, they can be life-threatening from birth. Common symptoms may include:

Rapid breathing
Poor feeding and inadequate weight gain in infants
Fatigue
Shortness of breath, especially during physical activity
Heart murmurs
bluish discoluration of skin

Diagnosis:

Diagnosing congenital heart disease typically involves a combination of prenatal screening, physical examinations, and diagnostic tests. Prenatal ultrasounds can sometimes detect heart abnormalities before birth. After birth, a pediatrician may detect signs of CHD during a physical exam, such as abnormal heart sounds or murmurs. Diagnostic tests such as 2D echocardiograms, electrocardiograms (ECG), Spo2 monitoring and cardiac catheterization may be performed to confirm the diagnosis and assess the severity of the defect.

Treatment:

Treatment for congenital heart disease depends on the type and severity of the defect. Mild cases may require no treatment or only periodic monitoring by a cardiologist. In more severe cases, treatment options may include:
Catheter-based interventions, such as balloon angioplasty or valve repair.
Surgical procedures to repair or correct the structural defects.
Heart transplant in cases of severe or life-threatening defects.
Pin hole surgeries/ Device closures

Conclusion:

Congenital heart disease is a complex condition that requires careful diagnosis and management. Advances in medical technology and treatment have greatly improved outcomes for individuals with CHD, allowing many to lead healthy and fulfilling lives. However, ongoing research is needed to better understand the causes of CHD and develop more effective treatments for this challenging condition. Early detection, proper medical care, and support are essential for individuals living with congenital heart disease and their families.