What are the other Names for this Condition? (Also known as/Synonyms)

• CHDs (Congenital Heart Defects)
• Congenital Heart Anomalies

What are Congenital Heart Defects? (Definition/Background Information)

Congenital Heart Defects (CHDs) are relatively common birth defects that affect the function and structure of the heart. These include faulty heart valves, holes in the inside walls of the heart, and complex malformations. The exact cause of the development of CHDs is not well-understood. These may develop from a combination of genetic and environmental factors. It is also believed that what the expectant mother consumes, such as food, drink, or some medications, may be contributive.

Severe Congenital Heart Defects are easily diagnosed through the early manifestation of signs and symptoms. However, moderate to mild cases may be detected much later (sometimes even into adulthood). Since CHDs are congenital in nature, children are generally affected at birth.

The signs and symptoms noted, the complications that may develop, and the treatment (surgical) approach that is considered/planned, are all chiefly related to the specific type of heart defect noted in the affected individual. Managing a Congenital Heart Defect almost always involves surgically correcting the defect and providing long-term symptomatic treatment.

Presently, there are no available measures to prevent these defects. Detecting early signs and symptoms, combined with a timely diagnosis, is key to managing the condition. A late recognition of Congenital Heart Defects and lack of appropriate treatment may lead to complications and adverse outcomes.

Congenital Heart Defects encompass a variety of specific conditions. Information is constantly being added through research, better documentation, and increased awareness. The following subtypes of CHDs are recognized:

Atrial Septal Defect (ASD): It is a congenital heart defect characterized by an abnormal opening in the wall (septum) between the two upper chambers of the heart (atria). This allows blood to flow from the left atrium to the right atrium, causing increased blood flow to the lungs. The signs and symptoms may vary but can include fatigue, shortness of breath, recurrent respiratory infections, and heart palpitations. Treatment options depend on the size and severity of the defect but may involve monitoring, medication, or surgical repair.

Atrioventricular Septal Defect (AVSD): It is a congenital heart defect where there is an abnormality in the development of the septum between the atria and the ventricles, as well as the valves between them. This leads to a mixture of oxygenated and deoxygenated blood flow, causing strain on the heart. The signs and symptoms may include difficulty breathing, poor feeding, slow growth, and frequent respiratory infections. Treatment usually requires surgical repair to close the defect and reconstruct the affected valves.

Coarctation of the Aorta (CoA): It is a congenital heart defect characterized by a narrowing of the aorta, the main artery that carries oxygenated blood from the heart to the body. This narrowing obstructs blood flow and causes increased pressure before the narrowing and reduced blood flow beyond it. Symptoms may include high blood pressure in the arms, weak or absent pulses in the lower extremities, and heart murmur. Treatment often involves surgical correction or catheter-based interventions to widen the narrowed segment and restore normal blood flow.

D-Transposition of the Great Arteries (d-TGA): It is a congenital heart defect where the positions of the two main arteries leaving the heart, the pulmonary artery and the aorta, are switched. This leads to the circulation of deoxygenated blood to the body and oxygenated blood back to the lungs, resulting in inadequate oxygen supply to the body. Newborns with d-TGA typically present with cyanosis (bluish skin color), difficulty breathing, and poor feeding. Early treatment involves stabilizing the newborn and then surgically correcting the abnormality.

Hypoplastic Left Heart Syndrome (HLHS): It is a congenital heart defect characterized by underdevelopment or absence of structures on the left side of the heart, including the left ventricle and the mitral and aortic valves. This leads to an inability to pump oxygenated blood to the body effectively. Newborns with HLHS may appear blue, have difficulty breathing, poor feeding, and weak pulses. Treatment usually involves a series of three surgeries known as the Norwood procedure, the Glenn procedure, and the Fontan procedure, or heart transplantation as a final option.

Pulmonary Valve Atresia: It is a congenital heart defect where the pulmonary valve, which allows blood to flow from the right ventricle to the lungs, is completely blocked or absent. This prevents blood from reaching the lungs to receive oxygen. Symptoms may include cyanosis (bluish skin color), difficulty breathing, and poor growth. Treatment options depend on the severity and associated abnormalities but may involve surgical interventions to create a pathway for blood flow to the lungs.

Tetralogy of Fallot (TOF): It is a complex congenital heart defect characterized by four specific abnormalities: a ventricular septal defect (hole in the wall separating the ventricles), pulmonary valve stenosis (narrowing of the pulmonary valve), right ventricular hypertrophy (thickening of the right ventricle), and an overriding aorta (aorta positioned over the ventricular septal defect). This leads to the mixing of oxygenated and deoxygenated blood. Symptoms can include cyanosis, difficulty breathing, and poor weight gain. Treatment usually involves surgical repair to correct the abnormalities and improve blood flow to the lungs.

Total Anomalous Pulmonary Venous Return (TAPVR): It is a congenital heart defect where the pulmonary veins, which carry oxygenated blood from the lungs to the heart, connect abnormally to the right atrium or other nearby veins instead of the left atrium. This results in oxygen-rich blood flowing back to the lungs instead of being pumped to the body. Symptoms may include cyanosis, rapid breathing, and poor feeding. Surgical intervention is necessary to redirect the abnormal connections and restore normal blood flow.

Tricuspid Atresia: It is a congenital heart defect where the tricuspid valve, which controls blood flow between the right atrium and right ventricle, is either missing or abnormally developed. This prevents blood from properly flowing from the right atrium to the right ventricle and to the lungs. Symptoms can include cyanosis, difficulty breathing, and poor growth. Treatment typically involves staged surgical procedures to improve blood flow and ensure proper oxygenation.

Truncus Arteriosus (TA): It is a congenital heart defect where the pulmonary artery and the aorta fail to separate during fetal development, resulting in a single large vessel that receives blood from both ventricles. This leads to the mixing of oxygenated and deoxygenated blood. Symptoms may include cyanosis, poor feeding, and difficulty breathing. Surgical intervention is required to separate the pulmonary artery and aorta and to reconstruct the affected vessels.

Ventricular Septal Defect (VSD): It is a common congenital heart defect characterized by a hole in the wall (septum) separating the two lower chambers of the heart (ventricles). This allows blood to flow from the left ventricle to the right ventricle, causing increased blood flow to the lungs. Symptoms can vary depending on the size of the defect but may include rapid breathing, poor weight gain, and frequent respiratory infections. Treatment options range from observation to surgical repair, depending on the size and location of the defect and the presence of associated complications.

This article is a resource with links to other, more specific conditions. Information on each Congenital Heart Defect may be viewed by clicking on the respective subtypes (above).

Information to join DoveMed’s patient forum called MyCircles to learn and manage the condition is also included. We are adding more information to this page periodically. Please bookmark this page for future reference and visit for updated content.

You can join the Congenital Heart Defects MyCircles patient forum by visiting here: https://www.dovemed.com/mycircles/circles/all