Author : Vânia Ribeiro What are congenital heart diseases? Congenital heart diseases are c ardiac malformations that occur during the development of the fetus heart in the pregnant uterus . These malformations are present at birth, although they may be diagnosed later, during childhood or even in adulthood. Congenital heart diseases may present by cyanosis (bluish skin), heart failure, heart murmur or arrhythmias. There are different congenital heart diseases, some complex, other simpler. Overall, they are divided into two main groups: Cyanotic heart diseases , when there is a tendency for bluish skin; Acyanotic heart diseases when this tendency is not present. Most frequent cyanotic congenital heart diseases Fallot tetralogy; Transposition of the great vessels; Tricuspid atresia; Ebstein anomaly; Complete auriculoventricular septal defect; Total anomalous pulmonary venous drainage. Most frequent congenital acyanotic heart disease Interventricular communication; Interauricular communication; Persistent ductus arteriosus; Coarctation of the aorta; Aortic stenosis. Causes In many cases, the exact cause of a congenital heart disease is unknown . However, it is known that the use of some medications, exposure to radiation, diseases such as rubella during pregnancy and also chronic diseases such as diabetes can be associated with the development of congenital heart diseases in the fetus. Some genetic syndromes are also associated with congenital heart disease, for example Down (trisomy 21), Turner, Williams or Noonan syndromes. There is also some hereditary relationship in these diseases, with recurrence in the offspring, especially when the mother is the carrier of the disease. In general, the risk is about 2% -4%, although it may be higher in certain congenital heart diseases or in genetic syndromes. Life expectancy of patients with congenital heart disease Currently, about 85% of children born with congenital heart disease reach adulthood . The technical advances and excellent medical-surgical care provided since the neonatal period by pediatrics, pediatric cardiology and cardiothoracic surgery have allowed more and more patients with congenital heart diseases to reach adulthood. The population with congenital heart disease grows by about 5% per year and there are now more adults with congenital heart diseases than pediatric patients. Follow-up of congenital heart diseases in adults The medical follow-up of patients with congenital heart diseases throughout life is very important. Up to the age of 18, this follow-up is done by pediatric cardiology; From the age of 18, patients should be followed by adult cardiologists with differentiation and experience in congenital heart diseases. Even when adult patients with congenital heart diseases underwent, when children, surgery or percutaneous interventions (via cardiac catheterization) to resolve their disease, they cannot, in most cases, be considered completely cured. They often have residual injuries, sequelae or other complications resulting from the procedures, that require follow-up. Also, re-interventions in adulthood may be necessary to avoid problems of terminal heart failure, compromising quality of life and longevity. For a correct and timely identification of problems a regular medical follow-up is essential . Thus, adult patients with congenital heart diseases should be followed up in a specialized consultation, performed by cardiologists with experience in the clinical, analytical, and imaging surveillance of this population. This follow-up should be regular and careful since many of these patients only have symptoms in a late stage of their disease and these are often irreversible. In addition to the disease follow-up, patients with congenital heart diseases have particularities that require medical advice , for example related with: Sport and physical activity; Professional activity; Family planning; Monitoring of pregnancy; Bacterial endocarditis prophylaxis. Like the general population, patients with congenital heart diseases are at risk of developing other acquired heart diseases, such as coronary heart disease (angina pectoris and myocardial infarction). Cardiovascular risk factors , such as smoking, high blood pressure, diabetes, high cholesterol, physical inactivity, overweight must be promptly corrected. It is very important for those who have a congenital heart disease: To be well aware of their disease and the consequences it can have; Comply with the medical follow-up recommended for their disease; Maintain a close doctor-patient relationship that allows them to have the safety, understanding and advice necessary to have a good quality of life. Meet the cardiology team from Hospital da Luz network and book your consultation or exam The content published in the Health Guide is intended for the general public and is provided for informational and educational purposes only. It does not replace individual medical assessment, diagnosis, or personalized clinical advice from a qualified healthcare professional. The content is produced or reviewed by physicians and other healthcare professionals at Hospital da Luz and is based on the knowledge available at the time of publication or the most recent update, as indicated at the beginning of each item.