Congenital Heart Disease (CHD) refers to one or more structural abnormalities of the heart or blood vessels that are present at birth. These defects occur due to improper development of the heart during early fetal growth, usually within the first few weeks of pregnancy. CHDs are the most common type of birth defect, affecting about 1 in every 100 live births.Symptoms of CHD vary depending on the severity of the defect. Mild forms may go unnoticed in childhood and only be discovered in adulthood, while severe defects often present early in infancy with signs such as rapid breathing, poor feeding, cyanosis (bluish skin/lips), fatigue, and poor weight gain. In some cases, CHDs can lead to complications like heart failure, arrhythmias, or pulmonary hypertension if untreated.
There is a wide spectrum of congenital heart defects, ranging from mild conditions that may not require treatment to severe, life-threatening malformations. Some common types include ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), tetralogy of Fallot (TOF), transposition of the great arteries (TGA), and coarctation of the aorta.The exact cause of CHD is not always known, but several factors may contribute, including genetic mutations, chromosomal abnormalities (such as Down syndrome), maternal infections during pregnancy (like rubella), certain medications or alcohol use during pregnancy, uncontrolled diabetes, and family history of heart defects.
Diagnosis is typically made through physical examination (detecting heart murmurs), followed by imaging techniques like echocardiography, chest X-ray, ECG, cardiac MRI, and sometimes cardiac catheterization. Many CHDs are now detected before birth via fetal echocardiography.Treatment depends on the type and severity of the defect. Some small defects may close on their own, while others require medical management, interventional procedures (like catheter-based repair), or open-heart surgery. In some complex cases, heart transplantation may be needed. Lifelong follow-up with a cardiologist is often necessary.