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A congenital heart defect is a condition that occurs when the heart – or blood vessels near the heart – do not develop normally before birth. Congenital heart defects are one of the most common birth defects, occurring in approximately one in 100 newborn infants. As a result of dramatic improvements in surgical and medical management of these conditions, it is estimated that there are approximately one million adults living in the United States with congenital heart disease (CHD).
Atrial septal defect (ASD) – An abnormal opening between the two upper chambers of the heart causes abnormal blood flow through the heart. Some atrial septal defects still require surgical repair. Some atrial septal defects are appropriate for transcatheter (non-surgical) procedures to close certain types of some atrial septal defects.
Bicuspid aortic valve – Bicuspid aortic valve is a defect of the aortic valve that results in the formation of two flaps instead of the normal three flaps. This occurs in one to two percent of the general population. In many cases, this condition does not cause any problems. Later in life, a murmur of stenosis or regurgitation can occur.
Coarctation of the aorta (CoA) – The aorta is narrowed or constricted, obstructing blood flow to the lower part of the body and increasing blood pressure above the constriction. Usually there are no symptoms at birth, but symptoms may develop rapidly depending on the degree of aortic narrowing. Treatment includes surgical repair in the infant. In the unrepaired coarctation of the aorta in an adolescent or young adult, treatment may include transcatheter procedures.
Congenital aortic stenosis (AS) – This congenital heart defect involves the aortic valve (e.g., instead of having the normal three flaps, the valve only has one or two) that results in an incomplete opening of the valve, making it more difficult for the heart to pump blood to the body. Management depends on age at diagnosis, severity of the obstruction and symptoms. In children, treatment may include balloon or surgical valvotomy.
Ebstein's anomaly – This defect of the tricuspid valve involves displacement of the valve toward the apex of the heart. Symptoms depend on the degree of displacement of the tricuspid valve and the presence of associated defects, such as atrial septal defect. Some patients may require repair or replacement of the tricuspid valve.
Hypoplastic left heart syndrome – In this condition, the left side of the heart is underdeveloped. Babies who have this condition often seem normal at birth, but the condition will become noticeable within a few days of birth as the patent ductus arteriosus closes (essentially an arterial shutdown). Babies will become ashen, have diminished pulse in the legs, have difficulty breathing and are unable to feed. Treatment may include complex surgery or a heart transplant.
Subvalvar aortic stenosis (AS) – Patients with subvalvar aortic stenosis represent the most diverse group of patients. Patients with subvalvular aortic stenosis are either born with or develop a ridge of muscle or tissue below the aortic valve. This obstructs the flow of blood from the left ventricle to the aorta. Symptoms and associated valve disease may be an indication for surgical repair.
Tetralogy of Fallot – This is the most common defect causing cyanosis (a condition where blood pumped to the body contains less than normal amounts of oxygen causing a bluish tint to the skin). The condition is characterized by four components:
Transposition of the great arteries – This condition involves abnormal arrangement of the primary arteries. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. Complete transposition is recognized early in the first day of life, presenting with a “blue baby.” Surgical intervention is required.
Tricuspid atresia – This defect results in the absence of the tricuspid valve, so no blood flows from the right atrium to the right ventricle. This condition is diagnosed in infancy due to cyanosis (a bluish tint to the skin). A staged, palliative surgical approach is required.
Ventricular septal defect (VSD) – A hole between the two lower chambers of the heart causes blood from the left ventricle to flow across into the right ventricle. This is one of the most common congenital heart defects. It occurs in isolation and with other defects. Early symptoms depend on the size of the ventricular septal defect and age of the patient.
Rare defects include:
In most cases, the cause of a congenital heart defect is not known. There is increasing evidence that genetics plays a role in certain congenital heart defects.
Adults with CHD require coordinated care at regional or national adult CHD centers throughout their lives. The Ohio State University Wexner Medical Center specializes in providing this lifelong care – from birth to adulthood. The Columbus Ohio Adult Congenital Heart Disease (COACH) Program at the OSU Wexner Medical Center consolidates specialized resources required for the care of adult congenital cardiac patients, and offers educational opportunities to cardiologists and other physicians.
The COACH program focuses on:
Due to improvements in technology, congenital heart defects are now detected before the baby is born via fetal ultrasound. Severe heart defects are often detected shortly after a baby is born. Other forms of mild congenital heart disease may not be detected until childhood, late adolescence or adulthood.
Tests physicians use to diagnose heart defects include:
Some congenital heart defects can be treated with minimally invasive procedures via cardiac catheterization, for example. Defects that can now be treated with catheter-based procedures include atrial septal defects (treated with transcatheter closure) and pulmonary valve stenosis (treated with balloon valvuloplasty).
Innovations in the catheterization suite have led to numerous developments in transcatheter interventions. Other congenital heart defects require open heart surgery, and sometimes require multiple surgeries.
In very rare cases, a baby’s heart defect is so complex that repair is not possible and a heart transplant may be necessary.
Not long ago women with heart problems were often discouraged from giving birth, but thanks to advances in medicine, that's changing. Watch Nikki's story.