Congenital Heart Disease Definition and Symptoms

What Causes Congenital Heart Disease?

What is Congenital Heart Disease?
Congenital heart disease (CHD) is a condition that affects the heart’s structure and function, and it is present at birth. It is a common birth defect, affecting approximately 1% of live births worldwide. The severity of the condition can vary, ranging from mild defects that do not cause symptoms to life-threatening conditions that require immediate treatment. This article will provide an overview of CHD, including its diagnosis, signs and symptoms, and how it can be detected in infants.

What is Congenital Heart Disease?

Diagnosis of CHD
The diagnosis of CHD is often made in infancy or even before birth. In some cases, the condition may be detected during routine prenatal ultrasound screening. This allows doctors to monitor the baby’s heart development and plan for appropriate management and treatment after birth. Newborns with CHD may exhibit a range of symptoms, depending on the type and severity of the defect.

Signs and Symptoms of CHD
Common signs and symptoms of CHD may include irritability, inconsolable crying, rapid breathing, excessive sweating, and difficulties in feeding and gaining weight. Some babies may also have bluish discoloration of the skin (cyanosis), water accumulation in the chest, leg swelling, and an absent or rapid pulse. In older children and adolescents, CHD may affect growth and development and produce weakness, fatigue, and shortness of breath during normal activities and exercise. Some children may also experience chest pain, dizziness, or fainting spells.

What’s a Heart Murmur?
During a physical examination, a doctor may detect a heart murmur, which is an abnormal sound caused by turbulent blood flow through the heart. This may indicate the presence of a heart defect and prompt further diagnostic testing for CHD.

Diagnosis of Congenital Heart Disease
To confirm a diagnosis of CHD, several basic investigations may be recommended, including echocardiography, chest X-ray, and electrocardiography (ECG). These tests help to evaluate the structure and function of the heart and identify any abnormalities. In some cases, additional tests such as CT scan, MRI scan, and cardiac catheterization may be necessary to supplement the diagnosis and plan for treatment.

How can CHD be Detected in Infants?
In recent years, advances in medical technology have made it possible to diagnose some heart defects even before a baby is born. Fetal echocardiography, a specialized ultrasound test, can be performed between 16-24 weeks of pregnancy to evaluate the developing baby’s heart structure and function. This early detection allows doctors to plan for appropriate management and treatment after birth, which can significantly improve outcomes for affected infants.

What is Congenital Heart Disease?

Types of Congenital Heart Disease
There are several types of CHD, including:

Atrial Septal Defect (ASD)
ASD is a hole in the wall that separates the two upper chambers of the heart. This defect can cause blood to flow between the chambers, causing the heart to work harder than normal.

Ventricular Septal Defect (VSD)
VSD is a hole in the wall that separates the two lower chambers of the heart. This defect can cause blood to flow between the chambers, leading to increased workload on the heart.

Tetralogy of Fallot (TOF)
TOF is a combination of four heart defects that affect the structure of the heart and its ability to pump blood efficiently. This condition is characterized by a hole in the heart, a narrowing of the pulmonary valve, thickening of the right ventricle, and an aorta that is shifted to the right.

Pulmonary Stenosis (PS)

(PS) is a type of congenital heart disease (CHD) that affects the pulmonary valve, which controls blood flow from the heart to the lungs. In PS, the pulmonary valve is narrowed or blocked, which restricts blood flow and increases pressure in the right side of the heart.

PS can range in severity from mild to severe, depending on the degree of valve narrowing. Mild PS may not cause any symptoms and may not require treatment. However, severe PS can lead to complications such as heart failure, arrhythmias, and infective endocarditis.

Diagnosis of PS typically involves a physical exam, echocardiography, and other diagnostic tests such as electrocardiography (ECG), chest X-ray, and cardiac catheterization. Treatment may involve watchful waiting, medications, or surgical intervention such as balloon valvuloplasty or valve replacement.

Early diagnosis and appropriate management are crucial for improving outcomes for individuals with PS. Regular follow-up care and monitoring are also important to ensure optimal heart function and prevent complications.

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