Congenital Heart Disease Symptoms and Their Clinical Presentation

Cyanotic vs. Acyanotic Congenital Heart Defects

Cyanotic heart defects are typically associated with right-to-left shunting of blood, which results in lower-than-normal oxygen levels in the bloodstream. Examples include Tetralogy of Fallot and transposition of the great arteries. In contrast, acyanotic defects may involve no shunting at all or left-to-right shunting, such as in pulmonary stenosis, aortic coarctation, atrial septal defect, ventricular septal defect, and patent ductus arteriosus.

Symptoms of Cyanotic Congenital Heart Disease

One of the most noticeable signs of cyanotic CHD is visible bluish discoloration of the lips, cheeks, and fingertips shortly after birth. Infants may experience shortness of breath or episodic breathing difficulties, especially during crying or physical exertion. Toddlers often exhibit a squatting behavior to relieve breathlessness. In severe cases, episodes of hypoxia may occur, presenting with pallor, limb weakness, fainting spells, and even seizures.

Symptoms of Acyanotic Congenital Heart Disease

Children with acyanotic CHD are more prone to frequent respiratory infections, including colds, bronchitis, and pneumonia, which can sometimes progress to heart failure. Feeding difficulties such as poor sucking, intermittent feeding, refusal to eat, or coughing while eating are common. As the child grows older, symptoms may evolve into developmental delays, failure to gain weight, chronic fatigue, and swelling in various body parts.

Importance of Early Detection and Treatment

If left untreated, acyanotic heart defects may eventually lead to secondary cyanosis, indicating irreversible damage and potentially eliminating surgical options. Early diagnosis through tools like echocardiography, cardiac catheterization, or angiography is crucial for timely intervention and improved long-term outcomes.