The most prominent symptoms of congenital heart disease are bruising, frequent breathing, extreme fatigue when breastfeeding and failure to gain weight, which can now be treated with a high success rate with options ranging from interventional methods such as angioplasty to open heart surgery. These congenital malformations of the heart and vascular system are the most common anomalies. While the symptoms of congenital heart disease are sometimes mild and may not be recognized until adulthood, in some cases they require emergency intervention soon after birth. When these heart disease symptoms are recognized, early diagnosis and proper treatment make it possible to live a healthy life.
What is Congenital Heart Disease and What Should Families Know?
Dear parents, the news that your baby may have a heart condition is undoubtedly worrying. However, you should know that you are not alone in this journey and that there are many solutions available through modern medicine. Congenital heart disease is a structural problem that occurs as a result of a defect in the development of the baby’s heart or major blood vessels in the womb, usually in the first 8 weeks. This is not a “mistake” or a “defect” but a developmental difference.
What causes this condition? In the vast majority of cases it is difficult to find a clear cause. However, there are some factors that can increase the risk. Sometimes there may be a genetic predisposition, meaning that a family history of a similar condition may slightly increase the risk. Some genetic syndromes, such as Atrioventricular Septal Defect (AVSD), the most common heart disease, especially in Down syndrome, tend to be associated with certain heart anomalies. Certain infections that the mother had during pregnancy (such as measles) or chronic conditions such as uncontrolled diabetes can also be a factor. Some medications or alcohol consumption used without doctor’s advice can also negatively affect this process.
It is important to underline, however, that often there is no apparent cause. It is important to understand that it is not related to something you did or did not do. The important thing is to diagnose this condition early and draw the right treatment roadmap. Today, a significant number of these diseases can be detected in the womb with fetal echocardiography, even before the baby is born. This early diagnosis gives the baby the best chance of a good start by ensuring that the birth is planned in a fully equipped center and that the baby receives the special care it needs as soon as it is born.
How are Congenital Heart Diseases Divided?
In simple terms, the heart’s main task is to collect contaminated blood from the body, pump it to the lungs to be cleaned, and distribute the clean blood enriched with oxygen in the lungs back throughout the body. Congenital heart disease upsets the balance in this perfect system. We can more easily understand diseases by dividing them into two main groups based on the effect they have on the body.
Diseases that do not cause bruising (Pink): In this group, there is enough oxygen in the blood supply to the body, so the baby or child does not show typical bruising. The problem usually occurs in two ways.
Holes in the Heart (Ascites): High-pressure, clean blood from the left side of the heart mixes with dirty blood from the right side through a hole between the chambers or vessels (such as an ASD or VSD). This increases the amount of blood going to the lungs far above normal. The lungs are almost “flooded” with blood. To meet this extra load, the heart has to work overtime and over time it tires and symptoms of heart failure appear.
Stenosis of Vessels or Valves: This is when a pathway through which blood must pass is narrow, for example a valve or a main artery (such as a coarctation of the aorta). The heart has to contract with enormous force to push the blood through this narrow passage. This is similar to the strain on a motor trying to force water through a garden hose with a tightened end. Over time, the heart muscle thickens and can then become tired and stop working.
Diseases that cause bruising (cyanotic): This is a more serious group. The main problem here is that dirty blood enters the lungs and mixes with the clean blood going directly to the body without being cleaned. This leads to insufficient oxygen supply to the body.
In diseases like Tetralogy di Fallot, there is both a stenosis in the pathway to the lungs and a large hole between the ventricles. Instead of taking the narrow path, the dirty blood takes the easy way out, jumps through the hole to the side where the clean blood is and enters the body.
In cases such as Transposition of the Great Arteries (TGA), the vessels leaving the heart are completely reversed. Dirty blood from the right side of the heart goes back into the body and clean blood from the left side goes back to the lungs. The body is constantly supplied with dirty blood. This situation is incompatible with life if there is no mixing between the two circulations.
Understanding this basic distinction is important for the next step, which is to understand the symptoms and treatment options.
What are the Most Important Symptoms of Congenital Heart Disease in Infants and Children?
Depending on the severity and type of the underlying problem, symptoms of congenital heart disease can appear from the moment of birth or remain silent for years. Parents’ knowledge of these symptoms is vital for early diagnosis.
- Things to Consider in the Newborn and Infancy Period
- Symptoms are more pronounced, especially in the first few months of life. Here are some things to watch out for in babies with heart disease:
- Bruising (cyanosis): A bluish or grayish color on the baby’s lips, tongue and nail beds, especially when crying or feeding. This is one of the most urgent and important signs.
- Rapid and labored breathing: rapid breathing as if the baby is constantly running, opening and closing the wings of the nose while breathing.
- Feeding Strength: Sucking is very tiring for these babies. They get tired quickly while sucking, rest often, and cold sweat appears on their foreheads and heads. Therefore, they cannot eat enough.
- Weight Gain and Growth Retardation: A baby who does not get enough nutrition and spends most of his/her energy on overworking his/her heart may not gain weight compared to his/her peers and may fall behind in development.
- Restlessness and Constant Crying: The baby may be constantly restless because of the distress it is experiencing.
Symptoms Seen in Older Children
- Symptoms may appear later in children with milder heart disease.
- Getting tired quickly: Tires more quickly than his/her friends when playing or running and feels the need to sit down and rest.
- Visual Pain: May complain of chest pain, especially during exertion.
- Fainting (Syncope): Fainting on exertion or suddenly is a very serious warning sign, especially in occlusive diseases such as aortic stenosis, and requires immediate medical attention.
- Palpitations: May indicate that your heart is beating very fast or irregularly.
- Frequent Recurrent Lung Infections: Too much blood in the lungs can lead to infections such as bronchitis and pneumonia.
The presence of any of these symptoms requires evaluation by a pediatric cardiologist. Sometimes a “murmur” heard by a doctor during a routine examination, sometimes without any symptoms, can also be the first sign of an underlying heart disease.
What are the Symptoms of Heart Disease in Adulthood and Why is it Important?
Thanks to successful heart surgery in childhood, today a very high proportion of people with congenital heart disease reach adulthood. This is a great victory for medicine. But it does not mean that these people are completely “cured”. A repaired heart works differently from a normal heart and can develop its own problems over time. this group of patients, called “Adult Congenital Heart Disease” (ACHD), requires special monitoring and treatment.
Symptoms of heart disease that occur in adulthood are usually the result of problems that have gradually developed over the years. These symptoms may include:
Arrhythmias (Arrhythmia): The most common problem. It occurs when years of abnormal blood flow or scar tissue from old surgeries affect the heart conduction system. It can cause symptoms such as palpitations, a feeling of light-headedness, dizziness or fainting.
Heart Failure: Over time, the heart muscle, which has worked for years at an abnormally high load, can tire and lose its pumping power. This condition manifests itself with symptoms such as shortness of breath, which increases especially during exertion, pain in the legs and abdomen, and waking up at night with shortness of breath.
Cover Problems: Valves that have been repaired or replaced may deteriorate, narrow or start to leak over time. Failure of the pulmonary valve, especially after Tetralogy di Fallot surgery, can lead to enlargement and dysfunction of the right ventricle in later years, necessitating a new operation.
Pulmonary Hypertension: A persistent increase in pressure in the arteries of the lungs. This is a serious and difficult-to-treat late complication of untreated large holes, especially in childhood.
Clot Formation and Risk of Stroke: Abnormal structures or rhythm disturbances inside the heart can predispose to clot formation inside the heart. If this clot breaks off into the brain, it can cause a stroke (paralysis).
For these reasons, it is vital that every person who has had heart surgery as a child, even if he or she has no complaints, is regularly followed up for life in a specialized cardiology center.
How is Congenital Heart Disease Diagnosed?
The first and most important step to successful treatment of congenital heart disease is an accurate and complete diagnosis. Thanks to the high-tech product imaging methods we use today, we can evaluate the structure and functions of the heart down to the finest detail and draw a treatment plan tailored to each patient.
The main methods used in the diagnostic process are as follows:
Echocardiography (ECHO): This is the cornerstone of the diagnosis. It is a painless and radiation-free method of obtaining live, moving images of the heart using ultrasound, or sound waves. It is performed by moving the probe through a gel applied to the child’s chest. It gives invaluable information about the heart chambers, valves, holes, stenosis and the force of the heart’s contraction.
Fetal Echocardiography: This is a specialized echocardiogram performed from the mother’s abdomen while the baby is still in the womb, usually between 18-24 weeks. It allows serious heart disease to be detected before birth, allowing the birth to be planned and the baby to be treated as quickly as possible.
Electrocardiography (ECG): A simple test that records the electrical activity of the heart. It helps to show rhythm disturbances and enlargements of the heart chambers.
Lung X-ray (Telecardiogram): It is an X-ray that shows the size and shape of the heart in the chest and whether blood flow to the lungs has increased.
Cardiac Magnetic Resonance (MRI): A method that creates highly detailed, three-dimensional images of the heart using a strong magnetic field and radio waves. It is the gold standard for measuring the volume and function of structures that are difficult to evaluate with ECHO, especially the right ventricle. Because it does not contain radiation, it can be safely used repeatedly in patients requiring lifelong follow-up. In young children, a mild anesthesia (sedation) is usually required to immobilize them during the procedure.
Computed Tomography (CT) Angiography: A test that uses X-rays and intravenously administered contrast material to show the heart and especially its vascular structures (coronary arteries, aorta, lung vessels) with very high resolution. It is especially valuable before complex surgeries, for example to see the course of the vessels and their relationship with the airways. The process is very fast but involves radiation:
Cardiac Catheterization and Angiography: Although no longer used for diagnostic purposes, it is indispensable in some cases. A thin tube (catheter) is inserted through a vein in the groin to the heart, direct pressure measurements are made and a film (angiogram) of the vessels is taken with contrast material. It is especially used to determine precisely whether the pulmonary artery pressure is suitable for surgery. Today, it is mostly used for therapeutic purposes (such as balloon valve dilatation, stenting, hole closure).
Is it Possible to Treat the Most Common Congenital Heart Disease?
A hole in the walls between the atria (ASD) or ventricles (VSD) of the heart is the most common group of congenital heart defects. Fortunately, these holes can now be treated quite successfully. The treatment method depends on the location of the hole, its size and how much strain it puts on the heart.
Hole Between the Ears (Atrial Septal Defect – ASD) Treatment
ASD is a hole between the atria, the two upper chambers of the heart. This hole increases blood flow to the lungs, fatiguing the right side of the heart. If left untreated, it can lead to serious rhythm disturbances and right heart failure in later life.
Treatment options are as follows:
Angioplasty Closure: This is currently the first choice for ASDs of appropriate structure. A catheter is inserted through the vein in the groin and a special umbrella-like device is passed through the hole and opened to close the hole. After this procedure, the patient is usually discharged within a day and no surgical scar remains on the chest.
Surgical Repair: If the hole is not amenable to angioplasty (it is too large or has insufficient edges), surgery is required. In surgery, the hole is closed either directly with sutures or, more commonly, with a patch made from the patient’s own heart membrane (pericardium) or a synthetic material. This surgery can now be performed not only through the chest bone, but also through small incisions in the armpit or under the breast (minimally invasive surgery). This gives better results both aesthetically and allows the patient to recover faster.
Interventricular Hole (Ventricular Septal Defect – VSD) Treatment
A VSD is a hole between the ventricles, the lower two chambers of the heart. Small VSDs usually cause no problems and most close on their own in infancy, so they are only monitored. However, large VSDs can cause severe heart failure and growth retardation in infants. In this case, the puncture must be closed before permanent damage to the pulmonary vessels occurs.
The gold standard for VSD treatment is surgical repair. The operation is performed using a heart-lung machine. The hole is closed with a synthetic patch. The most important and delicate point in this surgery is to protect the main conduction pathway of the heart (AV node and His bundle), which runs very close to the edge of the hole. Stitches in this area are sutured with the utmost care to prevent the patient from needing a permanent pacemaker. VSD closure by angiography is only performed in very special and selected cases because of the risk of damage to the heart’s conduction system.
What is the Treatment Process for Cyanotic Heart Disease?
Seeing bruising (cyanosis) in your baby is one of the most frightening experiences a family can have. It is a sign that not enough oxygen is getting to the body and often indicates a complex heart disease. But don’t despair, there are highly effective surgical methods that have been developed to treat these diseases.
Tetralogy di Fallot (ToF) Treatment
It is the most common heart disease with bruising. Basically, it has two major problems: a large hole between the ventricles (VSD) and a severe narrowing of the blood vessel that carries blood to the lungs. Because of this stenosis, dirty blood, instead of going to the lungs, passes through the hole and spreads throughout the body, causing bruising.
Treatment can be planned in two ways depending on the condition of the baby.
Complete Correction Surgery: Today, most babies are completely corrected with a single operation at 3 to 6 months of age. In this surgery, the VSD is closed with a patch and the stenosis in the lung vessel is removed. To remove the stenosis, the narrow artery is usually widened with a patch. This procedure completely eliminates bruising and saves lives. However, the patch usually disrupts the function of the lung valve, leading to some degree of valve insufficiency. This is a consciously recognized condition that may result in the patient needing a new intervention for this valve in future years.
Asant Surgery: In babies with very low birth weight, very small lung vessels or very poor general condition, full correction surgery can be risky. In this case, a temporary “ascent” is first performed to increase blood flow to the lungs. This involves inserting a small synthetic vein between one of the body’s main veins (usually the arm vein) and the lung vein. This procedure gives the baby time to grow and strengthen. Once the baby is fit, the actual full correction surgery is performed a few months later.
Transposition of the Great Arteries (TGA) Treatment
In this disease, the main vessels coming out of the heart (aorta and pulmonary artery) are reversed. This creates two separate and unmixed blood circulations and is incompatible with life without immediate intervention.
Treatment is urgent and stepwise.
First Postpartum Intervention: As soon as the baby is born, medication (prostaglandin) is started to keep the “ductus arteriosus” open, which was open in the womb and provides some mixing between the two circulations. Then, in the angiography laboratory, the wall between the earpieces is widened with a balloon (Rashkind procedure) to allow the blood to mix better.
Arterial Switch Surgery (ASO): This is the surgery that provides a complete anatomical correction of the disease and is usually done in the first two weeks of the baby’s life. In this surgery, the inverted vessels are cut and sewn back into the correct places where they should be. The most delicate and skillful part of the operation is the removal of the very thin coronary vessels that supply the heart and their transfer to the new aorta. After this operation, the baby has a completely normal blood circulation and can lead a healthy life.
How Long Do Congenital Heart Patients Live and Why Lifelong Follow-up is Necessary?
This is the question most often asked and wondered by parents: “Will my baby be able to lead a normal life, how long will he or she live?” The answer to this question has changed in an incredibly positive way thanks to advances in medicine over the last 30-40 years. We can now confidently answer the question “how long do congenital heart patients live?” with “they can live a very long and full life”. Today, more than a third of children born with congenital heart disease reach adulthood.
However, this success brings a new reality: These patients are not “cured” but “successfully treated”. A repaired heart will never be exactly like a normal heart. Initial surgeries are life-saving, but they are often only the first step in a journey that can last a lifetime. This is why lifelong monitoring is the most important part of this journey.
Why is lifelong monitoring so important?
Need for Second or Third Surgery: Over time, the artificial valves, patches or vessels (conduli) used can wear out, become narrower or lose their function. For example, if a failure of the pulmonary valve after Tetralogy di Fallot surgery causes the right ventricle to become very large years later, this valve needs to be replaced. Regular follow-up is essential to time such reoperations correctly and to intervene before permanent damage to the heart muscle occurs.
Arrhythmias: Over the years, rhythm disturbances can occur due to old surgical scars or the heart working under abnormal load. Their early diagnosis and treatment (with drugs, ablation or pacemakers) is vital.
Development of Heart Failure: The pumping power of the heart muscle can decrease over time. With regular check-ups, this condition can be detected early and the patient’s quality of life can be improved with heart failure medication.
Protection of Other Organs: Especially in complex heart disease, abnormal circulation can eventually affect other organs such as the liver and kidneys. Regular monitoring aims to protect these organs as well.
These patients should be followed up not only by pediatric cardiologists but also by a team of surgeons, cardiologists and other specialists in specialized “Adult Congenital Heart Disease” (ACHD) centers when they reach adulthood. During this process, taking into account the patient’s condition and quality of life, issues such as the issuance of a congenital heart disease disability report to benefit from social rights are also managed together with their doctors. Remember, regular follow-up is the key to a long and healthy life.