Symptoms, Types, Diagnosis and Treatment Methods of Congenital Heart Diseases

What are Congenital Heart Diseases?

Congenital heart disease (CHD) is a general term used for a range of birth defects that affect the normal functioning of the heart. The underlying cause of heart-related abnormalities present at birth is the failure of the baby's heart to develop healthily during pregnancy. Congenital heart conditions are among the most common birth defects. Conditions occurring in the heart can impair its blood-pumping function. Due to the impaired blood-pumping function, the speed of blood flow may be very slow, blood flow may not work as it should and blood may be pumped in the wrong direction, or blood flow may be completely blocked. There are many types of congenital heart defects depending on the condition they create in the heart. They can affect one or more parts of the heart.

What Are Congenital Heart Diseases?

Congenital heart disease or congenital heart defect refers to heart conditions encountered in babies during the birth process. Some CHD cases are simple and may not cause any serious discomfort in the baby. However, certain types of heart conditions can be life-threatening and may require treatment during infancy. Heart conditions can affect organs or tissues such as heart walls, heart valves and blood vessels. The most serious congenital heart defects are called critical congenital heart disease. Some babies born with severe heart abnormalities may need surgical intervention. However, possible symptoms of milder heart defects may not appear until childhood and adulthood.

In most cases, the cause of the disease cannot be determined. Many factors may play a role. Among these, a viral infection experienced by the mother or a genetic predisposition may cause this condition. Additionally, some congenital heart defects may be the result of harmful substance use during pregnancy, such as smoking, alcohol or drug use. A hole between the two chambers of the heart is a very common example of a congenital heart defect.

What Are the Types of Congenital Heart Disease?

Different types of congenital heart diseases can be seen in babies. These conditions may affect a part of the heart or cause abnormalities in multiple sections. The most common types are:

Cyanotic Congenital Heart Diseases

This condition can be seen when the heart reduces the amount of oxygen in individuals. Babies born with this disease may require surgery. The reason for this is insufficient oxygen levels. Oxygen levels are usually low and they require surgery. It can cause cyanosis, a condition that manifests itself with a blue discoloration of the tissues and skin. Some cyanotic congenital heart diseases include:

Obstructive lesions in the left heart: These types of conditions occur when blood flow between the heart and the rest of the body is reduced. Conditions include hypoplastic left heart syndrome, where the left side of your heart is very small, and interrupted aortic arch (absence of the aorta).

Obstructive lesions in the right heart: These reduce blood flow between your heart and your lungs (pulmonary blood flow). Examples include tetralogy of Fallot (a group of four abnormalities), Ebstein's anomaly, pulmonary atresia and tricuspid atresia (valves do not develop properly).

Blood flow problems: In this condition, the systemic and pulmonary blood flow directions may be different. An example of this is transposition of the great arteries. This condition occurs when the two main arteries leaving the heart are in the wrong place. Another condition is truncus arteriosus, where your heart has only one main artery instead of two to carry blood to the body.

Acyanotic Congenital Heart Disease

In this type of heart defect, the blood contains a sufficient amount of oxygen, but this oxygen is pumped abnormally throughout the body. Some acyanotic congenital heart diseases include:

Aorta problems: These conditions occur with structural or functional abnormalities of the aorta. For example, coarctation of the aorta is a condition that occurs with the narrowing of the aorta and can lead to complications such as high blood pressure and heart failure by restricting blood flow. Another example is aortic stenosis. In this case, the aortic valve narrows and makes it difficult for the heart's left ventricle to pump blood into the aorta. Symptoms of aortic stenosis may include shortness of breath, chest pain, dizziness, feeling faint and getting tired easily. Aortic atresia occurs when the aortic valve closes completely, which blocks blood flow.

Hole in the heart: There may be an abnormal opening in one of the walls of the heart. Conditions are named according to the location of the hole. Some of these conditions are atrial septal defect, atrioventricular canal, ventricular septal defect or patent ductus arteriosus. Symptoms can vary depending on the size, location of the hole and other factors, but generally may include symptoms such as respiratory distress, rapid breathing, poor weight gain, low oxygen levels, bluish skin discoloration (cyanosis), rapid heartbeat and getting tired easily.

Problems related to the pulmonary artery: The pulmonary artery is the vessel that carries blood from the right side of the heart to the lungs to receive oxygen. The condition where this artery is too narrow is called pulmonary stenosis. Degrees of pulmonary stenosis are generally classified as mild, moderate, severe and critical. Symptoms of pulmonary stenosis can include blue lips and skin (cyanosis), shortness of breath, fatigue.

What Are the Symptoms of Congenital Heart Diseases?

Congenital heart disease symptoms may start as soon as the baby is born or may not appear until later times. Some of the symptoms may include:

Bluish skin, lips and nails

Excessive sleepiness

Rapid breathing and difficulty breathing

Excessive fatigue

Heart murmur

Poor blood circulation

Weak pulse or pounding heartbeat

How Do Congenital Heart Diseases Occur?

Congenital heart diseases are innate heart abnormalities and stem from the failure of heart development to complete normally during the embryonic period. Although the exact cause of the condition is unknown, some risk factors may include:

Having abnormal chromosomes or genetics inherited from parents or occurring randomly

Using harmful substances such as alcohol and cigarettes during pregnancy

Some medication effects taken during pregnancy

Having metabolic diseases such as diabetes or phenylketonuria, or viral infections such as rubella during pregnancy

Additionally, inadequate or poor nutrition during pregnancy can affect embryonic heart development and contribute to the formation of congenital heart diseases.

How Is Congenital Heart Disease Diagnosed?

In some cases during pregnancy, an expert physician may detect any problems related to the circulatory system during routine checks. In such cases, the doctor may request certain tests for a more detailed examination. Additionally, routine physical examinations of babies and children after birth can help doctors detect heart anomalies. Doctors evaluate the patient's heart health by listening to heart sounds or observing symptoms such as cyanosis. In addition to the physical examination, the following tests may be ordered by the doctor to aid in diagnosis:

Chest X-ray: A chest X-ray takes internal pictures of your chest to reveal structural abnormalities.

Electrocardiogram (ECG): An electrocardiogram (ECG) measures the electrical activity of the heart.

Echocardiogram (ECHO): The ECHO test method uses ultrasound to create images of the heart valves and chambers.

Cardiac catheterization: Cardiac catheterization is an invasive medical procedure used to evaluate and treat the internal structure of the heart and blood vessels. With this test method, the doctor can understand how well the heart pumps and circulates blood.

Magnetic resonance imaging (MRI): An MRI for heart disease can create detailed pictures of your heart.

How Is Congenital Heart Disease Treated?

Congenital heart disease treatment can vary depending on the type and severity of the congenital heart defect. Some congenital heart problems do not require any treatment. For example, small holes in the heart usually close on their own as the child grows. Possible treatments may include:

Cardiac catheterization to repair simple defects such as a small hole in the inner wall of the heart

Medication therapy to help your heart work more efficiently or manage blood pressure

Surgical intervention in severe cases, such as repairing a large septal defect, opening a narrowed valve or vessel, or correcting the anatomical structure of the heart

Heart transplantation in severe cases

Frequently Asked Questions

Cyanotic congenital heart diseases are serious heart conditions that cause changes in skin color in babies, and their types include conditions such as tetralogy of Fallot, pulmonary atresia and pulmonary stenosis. Congenital heart screening is a test performed by an expert physician after birth to detect possible heart defects in babies. During the test, a device called a pulse oximeter is used. Congenital heart failure is a condition where the heart cannot pump blood effectively enough as a result of congenital heart abnormalities. Heart disease is not directly passed from mother to child. However, having a family history of the disease can increase the risk of developing the condition. Heart disease causing cyanosis is generally known as a condition called tetralogy of Fallot. In this disease, the imbalance of circulation between the right and left sides of the person's heart and insufficient oxygenation of the blood are observed.

If you observe symptoms of congenital heart disease in your child, early diagnosis and correct treatment are of great importance. Hisar Hospital Intercontinental Pediatric Cardiology and Cardiac Surgery Specialists serve with modern methods in the diagnosis and treatment of congenital heart diseases.

Make an appointment immediately or contact our cardiology outpatient clinic to receive support from our health team.