Congenital Heart Disease: Symptoms, Causes, and Treatment

Congenital heart diseases are abnormalities in the structure, valves, or blood vessels of the heart that develop while a baby is still in the womb. Symptoms of heart conditions in infants typically manifest as a bluish tint to the skin, feeding difficulties, and rapid breathing. Thanks to modern medicine, structural issues can be detected before birth using methods like fetal echocardiography, allowing a postnatal treatment plan to be put in place without losing any precious time.

• About one in every 100 live births involves a congenital heart anomaly.
• A diagnosis can be safely made in the womb using fetal echocardiography.
• A bluish tint (cyanosis) around the lips and nail beds is one of the most prominent warning signs.
• Many small heart holes (VSD, ASD) can close on their own over time.
• With early diagnosis and modern surgical approaches, the vast majority of patients go on to live a healthy adult life.

What is Congenital Heart Disease?

The heart takes shape and acquires its basic structure during the first eight weeks of development in the womb. Any disruption during this critical formative stage leads to structural defects in the heart's chambers, valves, or the major blood vessels connected to it. Known in medical terms as congenital heart disease, this condition prevents blood from being pumped or oxygenated correctly throughout the body.

The severity of the disease varies greatly. While some babies may only have a tiny hole in the heart that goes unnoticed for years without causing any symptoms, others may present with highly complex conditions requiring urgent intervention, such as one half of the heart failing to develop at all. These structural issues, which are quite common in the general population, rank among the most frequent birth anomalies seen in childhood. Thanks to advancing surgical and cardiological techniques, many cases that seemed hopeless in the past are now successfully treated.

Causes and Risk Factors

For the majority of congenital heart diseases, an exact cause cannot be pinpointed. However, medical research shows that a combination of genetic predispositions and environmental factors sets the stage for this condition. The mother's health status before and during pregnancy directly affects the baby's heart development.

Among genetic factors, chromosomal abnormalities like Down syndrome, Turner syndrome, and DiGeorge syndrome stand out. Babies with these syndromes have a much higher risk of having a heart anomaly. Additionally, if the mother, father, or previous children have a history of congenital heart disease, the risk increases for the new baby.

Environmental and maternal risk factors are quite diverse. A rubella (German measles) infection during the early months of pregnancy can severely impair the baby's heart development. A mother having uncontrolled diabetes, using certain medications during pregnancy without a doctor's approval, and consuming alcohol or tobacco products are also major factors that can lead to structural defects in the heart.

Common Types

Congenital heart diseases are categorized based on the location of the problem and how it affects blood flow. Knowing the most common types in broad terms is helpful for understanding the process.

Heart Holes (ASD and VSD)

This refers to an opening in the wall (septum) separating the right and left chambers of the heart. A hole between the upper chambers (atria) is called an Atrial Septal Defect (ASD), while a hole between the lower chambers (ventricles) is known as a Ventricular Septal Defect (VSD). These holes cause oxygen-rich and oxygen-poor blood to mix, increasing the amount of blood flowing to the lungs and potentially leading to heart failure over time.

Valve Narrowing (Stenosis) and Insufficiency (Regurgitation)

This occurs when the heart valves do not open fully (stenosis) or do not close completely (insufficiency). It is most commonly seen in the pulmonary valve and the aortic valve. In the case of valve stenosis, the heart has to work much harder than normal to pump blood, causing the heart muscle to thicken and tire out.

Major Blood Vessel Anomalies

These are complex conditions where multiple anomalies exist together, such as the major blood vessels leaving the heart being reversed (Transposition of the Great Arteries) or Tetralogy of Fallot. In such diseases, the body usually does not receive enough oxygen, and a severe bluish tint (cyanosis) appears as soon as the baby is born.

Symptoms of Heart Disease in Babies

Depending on the type and severity of the problem, symptoms of heart disease in babies may appear immediately after birth or months, even years, later. Parents observing their babies while feeding and sleeping is highly valuable for noticing early signs.

The most common symptom in newborns and infants is feeding difficulty. Suckling requires significant effort for a baby and acts almost like an exercise stress test. A baby with a heart problem tires quickly while feeding, frequently stops to rest, and may break out in beads of sweat on their forehead. When the body isn't getting enough oxygen, a bluish tint (cyanosis) around the lips, on the tongue, and at the nail beds becomes noticeable.

Rapid and labored breathing, wheezing, and a halt in weight gain are other important signs. The lungs of babies with heart failure are more susceptible to infections. Especially during the winter months, recurrent respiratory tract infections (for example, the RSV virus) can aggravate heart failure symptoms, and the recovery process takes much longer compared to healthy babies.

Diagnosis: How is it Diagnosed in the Hospital?

Congenital heart diseases can be diagnosed as early as the pregnancy period. The most effective and reliable method is fetal echocardiography, which examines the baby's heart in detail while still in the womb. Usually performed between the 18th and 24th weeks of pregnancy, this sound wave (ultrasound) test clearly shows the heart's structure, chambers, and blood vessel connections. For babies diagnosed before birth, delivery is planned in a fully equipped hospital, ensuring a pediatric cardiologist can intervene as soon as the baby is born.

In the postnatal period, the first suspicion usually arises if a pediatrician hears a heart murmur (an abnormal sound) during a routine examination. A pulse oximetry screening (measuring oxygen levels in the blood) performed before discharge from the hospital is lifesaving for catching some critical, asymptomatic heart conditions.

In suspected cases, a pediatric echocardiogram (children's heart ultrasound) is performed for a definitive diagnosis. This procedure is completely painless, involves no radiation, and instantly displays all anatomical details of the baby's heart and blood flow speed on a screen. When necessary, an ECG (electrocardiogram) and chest X-ray are also added to the diagnostic process.

Treatment Options

Not every congenital heart disease requires immediate surgery. The treatment plan is determined collaboratively by pediatric cardiology and pediatric cardiovascular surgery teams, based on the baby's age, weight, the type of disease, and overall health status.

Small heart holes (especially VSDs in the muscular part and small ASDs) often close on their own within the first few years as the baby grows. During this time, the baby is simply monitored with regular echocardiograms. For babies with signs of heart failure, diuretics and medications to support the heart muscle are administered to lighten the heart's workload and reduce fluid buildup in the lungs.

When intervention is required, two main methods stand out. The first is angiography (catheterization). By inserting a thin tube through the groin, some heart holes can be closed with umbrella-like devices, or narrowed valves can be widened with a balloon, all without opening the chest cavity. The second is open-heart surgery. For complex anomalies, large holes, or reversed blood vessels, a surgical operation is mandatory. Although the postoperative recovery period varies from patient to patient, babies generally return to their normal feeding and growth routines within a few weeks.

Complications and Risk Groups

Untreated or delayed congenital heart diseases lead to serious health problems in later years. Permanent high blood pressure in the lung vessels (pulmonary hypertension), irregular heart rhythms (arrhythmias), and chronic heart failure are the most common complications.

Additionally, children with structural heart defects have a higher-than-normal risk of endocarditis (inflammation of the heart's inner lining and valves). Because of this, preventive antibiotics may be necessary, especially before dental treatments or certain surgical procedures. Maintaining oral and dental hygiene is vital for children in this risk group. Premature babies, those with genetic syndromes, and low-birth-weight infants are at a higher risk for heart diseases and must be monitored much more closely.

When to See a Doctor

Keeping up with your baby's routine monthly check-ups is the most fundamental step for catching a potential heart problem early. However, if you observe any of the following symptoms, you should consult a pediatrician or a pediatric cardiologist:

• If your baby tires very quickly while feeding and sweats excessively on their forehead,
• If their weight gain has stopped or fallen far behind their peers,
• If they frequently suffer from lower respiratory tract illnesses like pneumonia or bronchitis,
• If their breathing is constantly rapid and labored.

In the following situations, you should call 112 (the emergency number in Türkiye) or go to the nearest emergency room without losing any time:

• Sudden, severe blueness (cyanotic or "tet" spells) developing on the baby's lips, tongue, or entire body,
• Extreme lethargy, unresponsiveness to surroundings, or inability to wake up,
• Extreme difficulty breathing, with severe pulling in of the chest (retractions),
• Sudden fainting (syncope) spells.

The Process at BHT CLINIC

At our hospital's Pediatric Cardiology department, all heart health processes of newborns, children, and young adults are meticulously monitored, starting from the fetal period in the womb. Babies diagnosed early via fetal echocardiography are placed under the care of our neonatal intensive care and pediatric cardiology specialists from the moment of birth.

With our advanced echocardiography equipment and experienced medical staff, even the slightest structural issues in the heart are quickly identified, and personalized treatment plans are created. For cases requiring urgent intervention, we stand by our patients with our 24/7 emergency department and fully equipped intensive care units. You can confidently book an appointment for all evaluations regarding your child's heart health.

Frequently Asked Questions

Can a hole in a baby's heart close on its own?

Yes, particularly small holes located in the muscle tissue between the lower chambers (muscular VSD) and small openings between the upper chambers (ASD) mostly close on their own within the first 1-2 years as the baby grows. During this time, your doctor will monitor the status of the hole with regular ultrasound follow-ups.

When is a fetal echo performed?

The most ideal time frame for a fetal echocardiogram is between the 18th and 24th weeks of pregnancy. During these weeks, the baby's heart structures can be evaluated most clearly via ultrasound. However, in high-risk situations or in cases of suspicion, this procedure can also be performed in the later weeks of pregnancy.

Is hearing a heart murmur always dangerous?

No, not every murmur heard by pediatricians indicates a heart disease. Sounds heard due to the speed of blood flow, without any structural defect in the heart—known as an 'innocent murmur' in childhood—are quite common. The definitive distinction is made through an echocardiogram performed by a pediatric cardiologist.

Can children with congenital heart disease play sports?

This depends entirely on the type and severity of the disease, as well as the treatment applied. The vast majority of patients can participate in many sporting activities just like their peers, following the evaluation and approval of a pediatric cardiologist. Competitive sports may only be restricted in cases of certain severe rhythm disorders or significant valve narrowing.

Do medications taken during pregnancy affect the baby's heart?

Taking certain medications unknowingly during pregnancy, especially in the first three months (the period of organ development), can negatively affect the baby's heart development. Therefore, from the moment you plan a pregnancy or throughout your pregnancy, you should absolutely not use any medication or herbal supplement without consulting your doctor.

This article is for informational purposes only; please consult your physician for diagnosis and treatment.