Congenital cardiovascular diseases

Causes and Risk Factors

ECCs can be caused by a combination of genetic and environmental factors. Among the main causes are:

• Genetic factors: Some heart defects can be inherited from parents to children, and in many cases are associated with genetic syndromes such as Down syndrome or Turner syndrome.
• Spontaneous mutations: Sometimes, ECCs occur without a family history due to random genetic changes during fetal development.
• Environmental factors: Exposure to certain substances during pregnancy, such as alcohol, tobacco, certain medications, or viral infections (such as rubella), may increase the risk of developing CDI.

Maternal diseases: Conditions such as uncontrolled diabetes can influence the development of the fetus's heart.

Types of Congenital Cardiovascular Diseases

There are different types of ECC, which vary in severity and treatment. Some of the most common include:

• Defects in the walls of the heart: Such as ventricular or atrial septal defects, which cause abnormal blood flow between the chambers of the heart.
• Valvular stenosis: When the heart valves are too narrow, hindering blood flow.
• Tetralogy of Fallot: A complex defect that combines four heart abnormalities and can cause poor blood circulation.
• Transposition of the great arteries: A condition in which the aorta and pulmonary artery are switched, affecting the normal flow of oxygen in the body.

Common Symptoms

The symptoms of CHD vary depending on the severity of the defect. In the most severe cases, signs may appear shortly after birth and include:

• Bluish discoloration of the skin and lips (cyanosis) due to a lack of oxygen in the blood.
• Difficulty breathing or rapid breathing.
• Extreme fatigue, especially during feeding in infants.
• Slow growth and problems gaining weight.
• Palpitations or irregular heart rhythms.

In milder cases, symptoms may not appear until childhood or even adulthood, presenting as fatigue, fainting, or difficulty performing physical activities.

Diagnosis and Treatment

Early diagnosis is key to successful treatment. Doctors can detect ECC by:

• Fetal echocardiography: Allows visualization of the baby's heart during pregnancy.
• Echocardiogram and electrocardiogram: These help evaluate the structure and rhythm of the heart after birth.
• Magnetic resonance imaging and cardiac catheterization: These are used in more complex cases to obtain detailed images of the heart.

Treatment depends on the type and severity of the disease. Some CDDs may resolve on their own as the child grows, while others require interventions such as:

• Heart surgery: To correct serious structural defects.
• Cardiac catheterization: A minimally invasive procedure to repair certain defects without open surgery.
• Medications: To control symptoms and improve heart function.

Pacemaker or heart transplant: In severe cases where other options are not effective.

Thanks to medical advances, many people with ECC can lead normal lives with proper treatment and follow-up. However, some patients may require lifelong medical care to prevent complications.

Early diagnosis, advances in surgery, and specialized care have significantly improved the life expectancy and quality of life for those born with these conditions.