
HEART DISEASES IN NEWBORNS AND CHILDREN
Heart Anomalies in Newborns
The development of the heart and major blood vessels is completed by the eighth week of intrauterine (in the womb) life. Any harm that acts in early pregnancy can lead to abnormalities in the development of the cardiovascular system. Although the cause of congenital heart anomalies is not yet well understood, about 90% of cases are attributed to multiple factors arising from the interaction of genetic and environmental factors.
Having a child with a congenital heart anomaly in the family increases the risk of the condition in a second child. A congenital heart anomaly in the mother or father also increases the risk. Therefore, when any family member has heart disease, examining the fetal heart with echocardiography during pregnancy is beneficial for the early detection of a congenital heart anomaly and for taking the necessary precautions at delivery.
What Is Congenital Heart Disease (CHD)?
These are conditions, mostly structural abnormalities of the heart, that arise for various reasons while the baby's heart is forming in the womb.
What Causes Congenital Heart Disease?
Although exactly why it occurs is not fully known, the following factors play a role in some cases:
1. Genetic Factors
- Chromosomal abnormalities (such as Down syndrome and Turner syndrome; CHD can be seen in about 50% of cases in both.)
- Single-gene mutations
2. Environmental Factors
- Intrauterine infections: Infections passed to the baby during the mother's pregnancy (rubella, mumps, etc.)
- Such as certain medications taken by the pregnant mother without a doctor's advice, smoking, alcohol use, diabetes in the mother, and connective tissue diseases.
3. Familial Factors: It is more common in the babies or siblings of people with a family history of congenital heart disease, especially in first-degree relatives (mother, father or a sibling).
In people with a genetic predisposition, environmental triggers such as certain viruses or medication use increase the frequency of congenital heart disease.
What Are the Symptoms of Congenital Heart Disease?
A child with heart disease is often brought to the doctor with complaints such as:
- Cyanosis (bluish discoloration),
- Shortness of breath,
- Rapid breathing,
- Tiring quickly,
- Excessive sweating,
- Palpitations,
- Chest pain,
- Feeding difficulties,
- Frequent respiratory tract infections,
- Fainting.
Sometimes there may be no symptoms other than a heart murmur. Congenital heart diseases may be detected incidentally during an examination performed for reasons such as a sports physical, an irregular heart rhythm, a heart murmur being heard or abnormal heart sounds.
Sometimes there may be no symptoms other than a heart murmur.
How Is Congenital Heart Disease Diagnosed?
The most important diagnostic method is a detailed review of the complaints and a physical examination. The tests then ordered usually include:
- Blood tests (complete blood count and special tests depending on the suspected diagnosis)
- ECG
- Chest X-ray, if necessary
- Echocardiography
- Depending on the echocardiography result:

Catheter angiography
Computed tomography
Other tests such as MRI may also be ordered.
What Are the Congenital Heart Diseases?
Structural congenital heart diseases are classified
By the presence of a shunt (mixing of blood): With shunt – Without shunt
By the presence of cyanosis (bluish discoloration): Cyanotic – Acyanotic
| Congenital heart diseases without cyanosis (bluish discoloration) | Those with cyanosis (bluish discoloration) (common ones) | ||
| • Those without a shunt (mixing of blood) • Those presenting with isolated stenosis (most common in childhood) • – Pulmonary artery stenosis (the artery to the lungs) • – Coarctation of the aorta (narrowing of the main artery) • – Aortic valve stenosis • – Tricuspid stenosis • – Mitral valve stenosis (very rare in childhood) ¥ • Heart muscle diseases ¥ Heart tumors | Those with a shunt (mixing of blood) (most common) Ventricular Septal Defects (VSD), Atrial Septal Defects (ASD), Patent Ductus Arteriosus (PDA), Atrioventricular Septal Defect (AVSD) | Conditions with increased pulmonary blood flow Transposition of the great arteries Truncus arteriosus Single ventricle without pulmonary stenosis Total anomalous pulmonary venous return | Conditions with decreased pulmonary blood flow (common ones) Tetralogy of Fallot (blue baby syndrome) Pulmonary atresia with VSD Pulmonary atresia without VSD Tricuspid atresia Single ventricle with pulmonary stenosis |
***Cyanosis in a newborn requires urgent diagnosis and treatment. It must be determined urgently whether the cyanosis originates from the lungs or the heart.
How Is It Treated?
Congenital heart diseases have various classifications. Based on these classifications, treatment is planned individually for each child according to their diagnosis.
Today, depending on the type and severity of the condition, these treatments include:
- Only regular (periodic) checkups after the family has been given the necessary information
- For some patients, only general recommendations such as special vaccinations, nutrition and activity restrictions.
- Medication
- Treatments tailored to the individual are planned according to the diagnosis. (with methods such as catheter angiography or surgery)
The information on our website is not intended to direct individuals to any treatment. Do not take any diagnostic or treatment steps without consulting your doctor. The content does not contain information about İzmir Can Hastanesi's therapeutic healthcare services.



