What is Congenital Heart Disease?
Reviewed By Dr. Seth Lichtenstein, MD
If you are concerned about your heart health, it is important to consult with a physician to understand any potential risks or conditions. One such condition is Congenital Heart Disease (CHD), which is an abnormality in structure or function that is present at birth. In this blog post, we will discuss what congenital heart disease is, its causes, types, symptoms, and treatment options.
What is Congenital Heart Disease?
Congenital heart disease is defined as an abnormality in the hearts structure or function that is present at birth, even if it is discovered much later. It is one of the most common birth defects, involving approximately 1% of live births. These abnormalities usually result from a change in the development of a normal structure of the heart or failure of such a structure to progress beyond an early stage of embryonic or fetal development. The patterns created by these defects can in turn, significantly influence the structural and functional development of the heart. These defects can vary in severity, from deficiency (or lack) of tissue (‘small holes’) between the heart chambers to complex structural abnormalities that affect the flow of blood through the heart and to the rest of the body. Some forms of congenital heart disease may require medical treatment to manage symptoms while other severe forms may require surgical interventions.
What Causes Congenital Heart Disease
There are several factors that can lead to the development of congenital heart disease, including genetic and environmental considerations.
Genetics – A single genetic mutation (an abnormality or change in the DNA sequence of a cell) can be a causative form for some congenital heart defects.
Smoking/Alcohol Use/Certain Medications – Pregnant women who smoke, consume alcohol, or take certain medications are at a higher risk of having a child with congenital heart disease.
Diabetes Mellitus- Pregnant woman with diabetes can be at a higher risk of having a child with congenital heart disease.
Viruses like Rubella or Cytomegalovirus – when contracted during pregnancy may pose a risk for congenital heart disease.
Types of Congenital Heart Disease or Defects
There are many different types of congenital heart disease. Some of the most common are:
Atrial septal defect (ASD): A deficiency in the central thin tissue or a ‘hole in the wall (septum)’ that separates the upper chambers of the heart (atria).
Ventricular septal defect (VSD): A deficiency in tissue or a ‘hole in the wall (septum)’ that separates the lower chambers of the heart (ventricles).
Patent ductus arteriosus (PDA): A blood vessel that continues to remain open after birth and allows blood to flow from the upper section of the aorta to the pulmonary artery.
Coarctation of the aorta: A narrowing in the upper portion of the aorta, a major blood vessel that carries oxygen-rich blood from the heart to the body.
Tetralogy of Fallot: A combination of four heart defects (or malformations) that can create low oxygen levels in the blood. This can lead to cyanosis, which is the change of body tissue color to a bluish-purple hue. Tetralogy of Fallot is the most common form of the cyanotic congenital heart diseases.
The specific type of CHD, as well as its severity, can impact the symptoms, treatment options, and prognosis for a patient.
Signs & Symptoms of Congenital Heart Disease
Congenital heart disease is a diverse group of conditions that affects the structure and function of the heart. Some common aspects of CHD and symptoms that may manifest in patients with CHD include:
Abnormal heart structure: CHD can result in a variety of structural abnormalities of the heart, such as deficient tissue in the heart, narrow or blocked blood vessels, or an improperly formed heart valve.
Poor blood flow: Many types of CHD can result in poor blood flow, either due to restricted blood flow in the heart or blood vessels, or due to blood flowing in the wrong direction.
Cyanosis: Some types of CHD can result in a blue tint to the skin, lips, and nail beds due to a lack of oxygen in the blood.
Fatigue: Children with CHD may experience fatigue and shortness of breath, especially during physical activity.
Rapid breathing: Rapid breathing and breathing difficulties may be present in patients with CHD, especially in severe cases.
Chest pain: Chest pain, although uncommon, may occur in patients with CHD, particularly if the condition affects the heart valves or blood vessels.
Swelling: Swelling in the legs, ankles, and feet may occur in patients with CHD, especially in those with heart failure.
It is important to note that the symptoms of CHD can vary widely depending on the type and severity of the condition, and not all patients with CHD will experience all of these symptoms.
Diagnosing & Treating Congenital Heart Disease
Diagnosing and treating congenital heart disease can be complex and may involve multiple healthcare professionals.
Diagnosis of Congenital Heart Disease
CHD is often diagnosed before or shortly after birth, but in some cases, it may not be diagnosed until later in life. The diagnostic process for CHD typically involves a medical history review, a detailed physical examination, and imaging tests such as an electrocardiogram (ECG), chest radiography (chest x-ray), echocardiogram, cardiac computed tomography (CT), and cardiac magnetic resonance imaging (MRI). These tests can help to determine the type and severity of CHD, as well as the best course of treatment.
Treatment of Congenital Heart Disease
Treatment for CHD varies, depending on the type and severity of the condition. In some cases, medication or lifestyle changes may be sufficient to manage CHD. In other cases, surgery may be required to repair or replace heart structures or to improve blood flow. Some types of CHD may also require ongoing monitoring and management to ensure that the condition is well-controlled. In some severe cases, CHD may require multiple surgeries or other treatments over the course of a lifetime. Regardless of the specific treatment, the goal of CHD treatment is to help improve the quality of life for the patient and to prevent or minimize complications associated with the condition.
In conclusion, Congenital Heart Disease can be a serious condition that affects the heart’s structure and function from birth. Understanding the causes, types, symptoms, and treatment options is crucial in managing this condition and maintaining good cardiovascular health. If you have any concerns about your heart health, do not hesitate to schedule an appointment at Saint John’s Physician Partners. Call us 7 days a week from 9 am – 5 pm at 424-900-8394, or if you prefer, visit the following link to schedule your appointment today.
About Dr. Seth Lichtenstein, MD
Dr. Lichtenstein was born and raised in Oradell, NJ. He graduated Cum Laude from Rutgers University in New Brunswick, NJ with a B.A in Biological Sciences. He received his M.D from Rutgers University- The New Jersey Medical School in Newark, NJ. He completed his internship and residency in Internal Medicine from Rush University Medical Center in Chicago, IL. He completed his Cardiovascular Disease fellowship at Harbor-UCLA Medical Center in Torrance, CA. During his ¬final year of training, Dr. Lichtenstein served as Chief Cardiology Fellow.