ABIM ACHD key terms

The proportion of a population living with structural heart defects present from birth. In adults it has risen as surgical survival improves, making acquired and residual issues common.

A genetic condition caused by missing DNA on chromosome 22. It commonly causes conotruncal heart defects, low calcium, immune problems, and cleft palate.

The chance that a congenital heart defect will occur again in another family member. It is higher when a parent or sibling is affected and varies by lesion type.

A clinical service that explains inheritance patterns, recurrence risks, and testing options to families. It helps patients with congenital heart disease plan pregnancies and understand possible syndromes.

A test measuring oxygen saturation in newborns to detect critical congenital heart disease before symptoms appear. Low readings prompt urgent echocardiography and evaluation.

Heart defects that cause persistently low blood oxygen, often from right-to-left shunting or mixing. Patients may have clubbing, exercise limitation, and risk of paradoxical embolism.

Abnormal blood flow from the systemic circulation to the pulmonary circulation through a defect. It increases pulmonary blood flow and can cause heart failure or pulmonary vascular disease over time.

The ratio of pulmonary to systemic blood flow calculated during cardiac catheterization. A value above 1.5 suggests a significant left-to-right shunt that may benefit from closure.

Pulmonary vascular disease caused by a long-standing left-to-right shunt that reverses to right-to-left flow. It causes cyanosis and limits exercise; closure of the defect is contraindicated.

The resistance that blood meets when flowing through lung vessels. It rises with chronic high pulmonary blood flow or pressure and determines whether a shunt can safely be closed.

A hole between the upper heart chambers that allows blood to flow left to right. It may cause right heart enlargement, arrhythmia, and pulmonary hypertension if left untreated.

A hole between the lower heart chambers. Small defects often close spontaneously, while large ones cause heart failure, pulmonary overcirculation, and possible pulmonary vascular disease.

A persistent fetal connection between the aorta and pulmonary artery after birth. It causes a left-to-right shunt and may require closure, especially if large or associated with pulmonary hypertension.

A congenital lesion with four features: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy. It causes cyanosis and requires surgical repair, often in infancy.

Leakage of the pulmonary valve allowing blood to flow backward into the right ventricle. It is common after Tetralogy of Fallot repair and can lead to right ventricular enlargement and failure.

A defect where the aorta arises from the right ventricle and the pulmonary artery from the left. Survival depends on mixing between circulations, and arterial switch surgery is standard.

A condition with both atrioventricular and ventriculoarterial discordance, so blood flow is physiologically corrected. The morphologic right ventricle supports the systemic circulation and may fail over time.

A right ventricle that pumps blood to the body, as in congenitally corrected transposition or after atrial switch surgery. It is prone to dysfunction, arrhythmia, and tricuspid regurgitation.

A surgical arrangement directing systemic venous blood to the pulmonary arteries without a subpulmonary ventricle. It palliates single-ventricle hearts but causes chronic venous pressure elevation and multiorgan complications.

Liver injury and fibrosis caused by chronic elevated central venous pressure in Fontan patients. It can progress silently and requires surveillance with imaging and laboratory tests.

Loss of protein into the intestine causing low albumin, edema, and immune deficiency. It is a serious complication of Fontan circulation and requires specialized management.

A narrowing of the aorta, usually near the ductus arteriosus. It causes upper extremity hypertension, weak femoral pulses, and risk of aneurysm or recurrent narrowing.

A valve with two leaflets instead of three. It commonly causes stenosis or regurgitation and is associated with aortic dilation and dissection risk.

High blood pressure in the pulmonary arteries from increased resistance or flow. In congenital heart disease it may be reversible after shunt closure or fixed in Eisenmenger syndrome.

Ultrasound imaging of heart structure and function. It assesses shunts, valve disease, ventricular function, and pulmonary pressures, and is first-line in congenital heart disease.

Magnetic resonance imaging that quantifies ventricular volumes, flows, and scar without radiation. It is essential for surveillance after Tetralogy of Fallot repair and in systemic right ventricles.

An invasive procedure using catheters to measure pressures, oxygen saturations, and shunts, and to perform interventions. It assesses operability and pulmonary vascular resistance in congenital heart disease.

Catheter-based treatment of congenital heart lesions, such as device closure of septal defects or stenting of narrowed vessels. It avoids surgery for selected patients.

A test measuring oxygen uptake, ventilation, and heart rhythm during exercise. It objectively assesses functional capacity and prognosis in adults with congenital heart disease.

Continuous or intermittent recording of heart rhythm outside the hospital. It detects paroxysmal arrhythmias, guides anticoagulation, and evaluates symptoms such as palpitations or syncope.

Antibiotics given before certain dental or invasive procedures to prevent infection of heart valves or prosthetic material. It is recommended only for the highest-risk congenital heart disease patients.

Medication that reduces blood clotting risk. In congenital heart disease it is used for atrial arrhythmias, mechanical valves, or Fontan complications, with careful bleeding risk assessment.

A device that monitors heart rhythm and delivers shocks or pacing to treat dangerous ventricular arrhythmias. It is considered in congenital heart disease patients at high sudden death risk.

A clinical syndrome of symptoms and signs from impaired cardiac output or congestion in adults with congenital heart disease. It may involve systemic ventricles, subpulmonary ventricles, or Fontan circulation.

Management of pregnancy in women with structural heart disease, requiring pre-pregnancy risk assessment and multidisciplinary care. Risks include heart failure, arrhythmia, and hypertension.

Discussing safe and effective birth control options with congenital heart disease patients. Certain estrogen-containing methods increase thrombosis risk, so individualized choices are essential.

A planned process moving adolescents with congenital heart disease from pediatric to adult-centered services. It improves continuity, education, and engagement in lifelong care.

A tear in the aortic wall causing blood to flow within its layers. Adults with bicuspid aortic valve, coarctation, or connective tissue disease are at increased risk and need urgent imaging.

Unexpected death from a cardiac cause, often due to ventricular arrhythmia. In congenital heart disease it is associated with repaired Tetralogy of Fallot, systemic right ventricle, and aortic disease.

A sudden worsening of cyanosis and hypoxia in a child with Tetralogy of Fallot, often after crying or feeding. It is an emergency requiring positioning, oxygen, and sometimes beta-blockade.