The names and abbreviations in Congenital Heart Disease are complicating and confusing. Most parents are unfamiliar with these terms and abbreviations. This list is an attempt to gather in one place as many of the recognized CHDs as we can, with their abbreviations and a laymans explanation of what they are. This list was created by searching the internet for sites about CHDs and then simplifying and combining all the information into one page. This list is for informational purposes only and does not constitute a treatment plan or protocol for your child.
Click on the name of the defect to go to the description.
Aortic stenosis is a narrowing of the aortic valve or a narrowing of the aorta directly above (supravalvar) or below (subaortic) the aortic valve. Normally, oxygen-rich blood is pumped from the left ventricle, through the aortic valve, into the aorta and then out to the body. With aortic stenosis, it makes it very hard for the heart to pump blood to the body. Depending on the severity of the stenosis, open heart surgery may be needed to correct the defect. Another option may be a balloon valvuloplasty.
Subaortic stenosis refers to a narrowing of the left ventricle just below the aortic valve, which blood passes through to go into the aorta. This stenosis limits the flow of blood out of the left ventricle. This condition may be congenital or may be due to a particular form of cardiomyopathy known as “idiopathic hypertrophic subaortic stenosis” (IHSS).
Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta which can occur as a congenital defect itself or as one component of Williams syndrome.
Congenital aortic stenosis occurs in 3 to 6 percent of all children with congenital heart defects. Relatively few children are symptomatic in infancy, but the incidence of problems increases sharply in adulthood. Congenital aortic stenosis occurs four times more often in boys than in girls.
Atrial Septal Defect (ASD)
The septum is the wall that separates the right and left sides of the heart. A hole in the wall between the two upper chambers is called an atrial septal defect, or ASD. This is one of the least complex forms of congenital heart defect, and was one of the first types to be repaired surgically. Normally, low-oxygen blood entering the right side of the heart stays on the right side, and oxygen-rich blood stays on the left side of the heart, where it is then pumped to the body. When a defect or “hole” is present between the atria (or upper chambers), some oxygen-rich blood leaks back to the right side of the heart. It then goes back to the lungs even though it is already rich in oxygen. Because of this, there is a significant increase in the blood that goes to the lungs.
There are different kinds of ASDs. The most common form of ASD is the secundum defect which usually occurs as an isolated defect. The primum ASD is associated with a cleft in the mitral valve which may also cause the valve to leak. The third kind of ASD is the sinus venosus defect, located in the superior portion of the atrial septum and typically associated with abnormal drainage of the right upper pulmonary vein.
Atrial septal defects can vary greatly in size. Some ASDs will close on their own and no surgery is needed. Some ASDs are closed in the catheterization lab and do not require open-heart surgery. Certain devices such as the Amplatzer Occluder, the CardioSEAL, Helex, and Clamshell Device are currently being used or have been used in the past. Some ASDs will need to be corrected with open heart surgery to restore normal blood circulation and/or to repair subsequent damage which has occurred in the heart. Many ASDs are not detected until adulthood. Left untreated for decades, potential problems include lung disease, exercise intolerance, heart rhythm abnormalities, shortened life expectancy and the increased risk of a stroke.
Atrial septal defects occur in 5 to 10 percent of all children born with congenital heart disease. For unknown reasons, girls have atrial septal defects twice as often as boys.
Atrioventricular Septal Defect (also known as atrioventricular canal defect, or AV canal)
This complex defect is best described as a large hole in the middle of the heart. It results from a lack of separation of the atria and the ventricles into separate chambers, and a lack of separation of the mitral and tricuspid valves into two separate valves. This results in a large connection between the two atria, between the two ventricles, and a single atrioventricular (or AV) valve where there should be separate mitral and tricuspid valves. In the most complex form of this defect, not only are there holes between the atria, the ventricles, and the mitral/tricuspid valves, one of the ventricles may not be properly formed, the valves may be ‘over-riding’ or ‘straddling’, or there may be an obstruction to the aorta. Because of the large amount of extra blood going to the lungs (through the septal defects), high blood pressure may occur and over time this can damage the blood vessels. In addition, the valve between the upper (atrial) and lower (ventricular) chambers might not close properly. Blood then leaks backward from the ventricular chambers to the atrial chambers. This leak is referred to as regurgitation or insufficiency of the valve. When the valve leaks, the heart has to pump more blood. This can lead to enlargement of the heart.
This defect is usually corrected in infancy with open heart surgery to restore normal blood circulation through the heart. Surgical repair consists of separation of the common AV valve into two valves, along with closure of the VSD and ASD. Some children, however, may have too complex a defect to correct in infancy, and would initially require a pulmonary artery banding. This will decrease blood flow and reduce the high pressure in the lungs. When the child is older, the band will be removed and the defect corrected with open heart surgery.
Atrioventricular canal occurs in two out of every 10,000 live births, and equally in boys and girls.
Bicuspid aortic valve
The normal aortic valve has three flaps (cusps) that open and close. A bicuspid valve has only two cusps. There may be no symptoms in childhood, but by adulthood (often middle age or older), the valve can become narrowed, making it harder for blood to pass through it, or it may start allowing blood to leak backward through it. Treatment depends on how well the valve works.
Bicuspid aortic valve is the most common congenital cardiac anomaly occurring in 1-2% of the population with males affected 4 times more frequently than females.
DCRV: Double (or Dual) Chamber Right Ventricle DCRV is a rare defect (0.5 – 2% CHD patients have this one) where there is, basically, extra muscle in the right ventricle that causes it to function as 2 ventricles. It almost always presents with a VSD.
Complete heart block (Complete AV block)
In this defect, the heart’s electrical signal doesn’t pass from the heart’s own natural pacemaker in the atrium to the lower chambers. When this occurs, an independent pacemaker in the lower chambers takes over. The ventricles can contract and pump blood, but at a slower rate than the atrial pacemaker. Complete heart block is most often caused in adults by heart disease or as a side effect of drug toxicity. Heart block also can be present at birth. This is called congenital heart block. It also may result from an injury to the electrical conduction system during heart surgery. When the pacemaker in the ventricles isn’t fast enough or reliable enough, an artificial pacemaker is put in. Heart block can be of varying degrees:
Congenital heart block, when detected at or before birth in a structurally normal heart, is strongly associated with autoantibodies reactive with certain proteins.
Congenitally Corrected Transposition of the Great Arteries (CCTGA)
This is an uncommon defect occurring in less than 1% of all people with congenital heart defects. Many people with this defect may live into adulthood before the defect is diagnosed and before symptoms occur.
Coarctation of the Aorta
The aorta is the main artery that sends oxygen-rich blood from the heart to the body. Coarctation of the aorta is a constricted segment of the aorta that obstructs blood flow to the body. The left ventricle has to pump harder because the pressure is high. Because of this, the heart may enlarge. Coarctations most often occur as isolated defects, but may occur with a ventricular septal defect, subaortic stenosis, or complex congenital heart defects. Surgery may be needed to correct the defect, depending on the severity of the coarctation and the presence of other congenital defects. Another option may be a balloon angioplasty.
Coarctation of the aorta occurs in about 6 to 8 percent of all children with congenital heart disease. Boys have the defect twice as often as girls do.
Coronary Artery Abnormalites
The coronary arteries arise from the aorta and supply the heart with oxygen rich blood.
Most common congenital Cardiac Anomaly is called ALCAPA.
ALCAPA is a congenital coronary artery anomaly in which the left coronary artery arises from the pulmonary artery rather than its usual origin from the aorta. This condition is one cause of poor cardiac function in infancy. It stands for Anomalous Left Coronary Artery from the Pulmonary Artery. It is very rare and surgery is needed to correct it. Sometimes the mitral valve is also not working well in patients with this anomaly and may require repair or replacement. Without surgery, most babies don’t survive their first year. With timely surgery, most babies do well and live a normal life
Coronary cameral fistulas, meaning connections between the coronary arteries and the heart chambers are another form of congenital coronary anomalies. These can cause heart failure and most can now be managed angiographically.
Coronary artery aneurysms are rare anomalies in which the coronary arteries are dilated and become aneurysmal and this usually occur in the setting of Kawasaki’s disease.
Dextrocardia litterally means “heart on the right”. If the developing heart tube bends to the left instead of the right, then the heart is displaced to the right and develops in a mirror image of its normal state. It is interesting to note that identical twins are sometimes “mirror images” of each other, one having organs in the normal positions and one having them on the opposite side of the body. This is a condition called situs inversus.
Having dextrocardia does not mean the heart is defective, it just means that it is on the right instead of the left side of the body. Assuming there are no associated vascular abnormalities, then the heart functions normally.
In cases where the heart is the only organ which is transposed, known as isolated dextrocardia, there are usually other severe cardiac abnormalities. Dextrocardia can complicate heart defect treatments in that it can make surgery even more difficult, and heart transplants for patients with dextrocardia are more difficult since the anatomy of the donor and recipient don’t match.
DiGeorge syndrome is a complex birth defect. In most cases there is a chromosomal defect on chromosome 22. DiGeorge consists of a particular group of symptoms frequently occurring together, including the following:
In the 1980s, the technology was developed to identify underlying chromosome defects of three similar syndromes. It was determined that over 90 percent of all patients with features of DiGeorge, Shprintzen, and velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11. In other words, this was the same syndrome, but because several different researchers in different areas of expertise had described it, the syndrome carried multiple names. Many physicians and researchers today use the term 22q11 deletion syndrome because it describes the underlying chromosome problem, or velo-cardio-facial syndrome (VCFS) because it describes the main body systems involved.
Approximately 10 percent of individuals who have the features velo-cardio-facial syndrome (VCFS) do not have a deletion in the chromosome 22q11 region. Other chromosome defects have been associated with these features, as have maternal diabetes, fetal alcohol syndrome, and prenatal exposure to Accutane® (a medication for cystic acne).
Double Aortic Arch
The ascending aorta splits into 2 “arches” which pass to the right and left of the trachea and esophagus. The two arches rejoin behind the esophagus to form the descending aorta. There are two types:
Double Outlet Right Ventricle (DORV)
Normally, a ventricle has just ONE outlet. For the left ventricle, this is the aorta. For the right ventricle it is the pulmonary artery. In DORV, both of these “outlet” blood vessels – aorta and pulmonary artery -arise from the RIGHT VENTRICLE, either totally or to a great extent. Most cases of DORV have a VSD. DORV is classified based on the relationship between the VSD and the blood vessels. If the VSD is right under the aorta, it is called DORV with Sub-Aortic VSD. If it lies under the pulmonary artery, it becomes DORV with Sub-Pulmonary VSD – also called the TAUSSIG-BING anomaly. If the VSD is under both the arteries, it is called DORV with Doubly Committed VSD. Sometimes, the VSD is farther away from the arteries, and is known as DORV with Non-Committed VSD. When in addition to this, there is narrowing of the pulmonary valve (Pulmonary Stenosis), the condition is similar to Tetralogy of Fallot (ToF). If the VSD is below the pulmonary valve, the features are just like those of Transposition of Great Arteries (TGA). When the VSD is doubly committed or non committed, clinical features are variable.
This defect is a downward displacement of the tricuspid valve (located between the heart’s upper and lower chambers on the right side) into the heart’s right bottom chamber (or right ventricle). It’s usually associated with an atrial septal defect. While there is free flow of blood forward across the tricuspid valve to the right ventricle, the deformed tricuspid valve allows a large amount of blood to flow backwards from the right ventricle to right atrium when the right ventricle contracts. About 10% of cases are associated with chronic maternal lithium use. The treatment of this disorder depends on whether or not the person with it has any symptoms. Surgery is sometimes required early in life. On the other hand, people may have a normal life expectancy. Irregular and fast heartbeats (arrhythmia) frequently accompany this condition.
Endocardial Fibroelastosis (EF)
Endocardial Fibroelastosis is a rare heart disorder that affects infants and children. It is characterized by an abnormal thickening of heart tissue, especially around the valves, causing abnormal enlargement of the heart (cardiac hypertrophy), especially affecting the left ventricle. Impaired heart and lung function can eventually lead to congestive heart failure. It can cause valve failure and sudden death. Endocardial Fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked or autosomal recessive genetic trait.
Eisenmenger’s complex is a ventricular septal defect combined with pulmonary high blood pressure, the passage of blood from the right side of the heart to the left (right to left shunt) and an enlarged right ventricle. It may also include a malpositioned aorta that receives blood from both the right and left ventricles (an overriding aorta). Without early surgical correction of the underlying defect, such changes may cause progressive damage small blood vessels in lung tissue (pulmonary vascular disease).
Disorder characterized by distinctive malformations of the bones of the thumbs and forearms (upper limbs) and/or abnormalities of the heart.
Hypertrophic Cardiomyopathy (HCM, HOCM, IHSS)
The main feature of Hypertrophic Cardiomyopathy is an excessive thickening of the heart muscle. Heart muscle may thicken in normal individuals as a result of high blood pressure or prolonged athletic training. In Hypertrophic Cardiomyopathy (HCM), however, the muscle thickening occurs without an obvious cause. The condition has been known by a number of other names including “hypertrophic obstructive cardiomyopathy” (HOCM), “idiopathic hypertrophic sub-aortic stenosis” (IHSS) and “muscular sub-aortic stenosis” The general term “hypertrophic cardiomyopathy” is now the most widely used and recommended. Cardiomyopathy differs from many of the other disorders of the heart in several ways, including the following:
See The Cardiomyopathy Association for more information.
Hypoplastic Left Heart syndrome (HLHS)
Hypoplastic left heart syndrome, or HLHS for short, means that the left side of the heart did not develop normally. Therefore, the mitral and aortic valves are usually tiny or absent, as are the the left ventricle and the first part of the aorta. Perhaps the most critical defect in HLHS is the small, underdeveloped left ventricle. In a normal heart, this chamber is very strong and muscular so it can pump blood to the body. When the chamber is small and poorly developed, it will not function effectively and cannot provide enough bloodflow to meet the body’s needs. For this reason, an infant with HLHS will not live long without surgical intervention. Parents are given a number of options depending on when the diagnosis is made potentially including — abortion of the fetus, compassionate care (no surgical intervention which results in the baby passing away usually within the first two weeks of life) or one of a number of surgical option.
There are two, possibly three, surgical options; one is cardiac transplantation, in which the heart is replaced by a donated heart,; another is a 3-staged surgical procedure and the last surgical option is only available for a subset of HLHS patients and is called a biventricular repair.
The three-step procedure is called “the Norwood” because the first operation is called the Norwood Procedure. The Norwood is done very soon after birth, usually within the first few days of life. The second step is called the hemi-Fontan (which is frequently a bi-directional Glenn operation). It sends half of the blood returning from the body to the lungs, reducing the workload on the heart. This second step is part of the preparation to transform the HLHS heart into a two-chamber pumping heart which will only function to pump blood to the body (after the third operation, all of the blood will travel passively to the lungs). The third operation is called the Fontan operation. In this operation, the other half of the blood returning from the body to the heart is sent instead to the lungs. In what used to be a uniformly fatal disease, consider the following statistics from the very best facilities treating HLHS:
These statistics are not representative of EVERY facility treating HLHS, so it is imperative parents ask their children’s doctors for information BEFORE a treatment facility is chosen — if there is time. This is one of the advantages of finding out about the HLHS diagnosis in utero.
Most patients who get through the three stages do quite well. They are able to lead a fairly normal life with few restrictions. Most patients have to be on some kind of anticoagulant (like baby aspirin), many need Digoxin, some kind of diuretic (at least for some time post-operatively) and/or medications to control blood pressure. Of course they have to take antibiotics prophylactically, as do other children with severe, congenital heart defects.
The biventricular repair is only available for a small subset of HLHS infants whose left ventricle is small, but not too small. The biventricular repair is actually a series of operations which must be performed in stages, like the Norwood Procedure; however, instead of converting the heart into a two-chamber pumping heart, the bi-ventricular repair encourages growth of the small left ventricle so that ultimately the child will have a fully functional, four-chamber pumping heart. Not as many facilities have experience performing this fairly new procedure, so some research on the part of the parents may be needed to find the ideal facility for their child.
Hypoplastic left heart syndrome occurs in up to four out of every 10,000 live births. It is one of the top three heart abnormalities to cause problems in the newborn. HLHS occurs slightly more often in boys than in girls.
Hypoplastic Right Heart Disease (Pulmonary Atresia)
This defect consists of a complete obstruction of the right ventricle outflow tract due to a hypoplastic (narrowed) pulmonary artery. When the ventricular septum is intact the PDA and / or bronchial collateral arteries provide the only source of pulmonary blood flow. There are two types of this defect: A small right ventricle with a thick wall and a small but working tricuspid valve. This is the most common. The other type is to have a normal right ventricle with a complete but malfunctioning tricuspid valve.
Interupted Aortic Arch (IAA)
In this defect, part of the aorta is absent and this leads to severe obstruction to blood flow to the lower part of the body. In the immediate newborn period blood flows through the ductus into the descending aorta and reaches the lower part of the body. As the ductus closes after birth, blood pressure in the lower circulation becomes inadequate and severe symptoms develop. Most affected infants develop severe symptoms (difficulty breathing and impaired kidney function) in the first week of life and need urgent surgery.
Isolated Non-Compaction of Left Ventricular Myocardium (INLVM)
The left ventricle is made up of embryonic tissue that stopped developing completely in gestation and never finished “forming.”
Kawasaki disease is fairly common in the US. According to the American Heart Association, the illness is a major cause of heart disease in children. About 1,800 new cases are diagnosed in the US each year, and the incidence is on the rise. Kawasaki disease has replaced acute rheumatic fever as the leading cause of acquired heart disease in children in the US and Japan.
Kawasaki disease occurs more often in Japan than in any other country. In the US, children of Asian or Asian-American heritage are affected more often than other races, although Kawasaki disease can occur in any racial or ethnic group. The vast majority of children who develop Kawasaki disease are under age 5. The average age child seen with the illness is 2 years old. It occurs in boys twice as often as in girls.
Left Ventricular Outflow Tract Obstruction (LVOTO)
The occurrence of subvalvar LVOTO, coarctation and mitral stenosis (parachute mitral valve and supramitral ring) is known as Shone’s syndrome.
Long QT syndrome (LQTS)
A deficiency of fibrillin in connective tissue creates the abnormalities in organs and body structures that may be seen with Marfan syndrome. Other symptoms may be noted that contribute to the certainty of the diagnosis. Each child may experience symptoms differently. Non-heart related symptoms may include:
Major Aorta/Pulmonary Collateral Arteries (MAPCAs)
Mitral Valve Proplaspe (MVP)
This defect is very common in its mild form, and requires minimal medical attention. In the severe form, it usually leads to heart failure and requires surgical repair or replacement of the mitral valve. Occasionally, MVP leads to a condition known as mitral regurgitation or insufficiency. This means a large amount of blood is leaking backward through the defective valve instead of continuing in the normal direction. Mitral regurgitation can result in the thickening or enlargement of the heart wall, caused by the extra pumping the heart must do to compensate for the backflow of blood. Mitral regurgitation sometimes causes fatigue or shortness of breath. The condition can usually be treated with medication, but a few people require surgery to repair or replace the defective valve.
Although MVP affects 5% to 7% of the population, the cause is unknown. Mitral valve prolapse occurs more often in women than men; it often occurs in people who have no other heart problems, and the condition may be inherited.
Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows. Many infants with Noonan syndrome also have heart defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, mild mental retardation, and/or other symptoms.
In some affected individuals, Noonan syndrome appears to result from spontaneous genetic mutations. In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24).
Partially Anomalous Pulmonary Venous Return (PAPVR)
Patent Ductus Arteriosus (PDA)
Patent ductus arteriosus is the sixth most common congenital heart defect, occurring in 5 to10 percent of all children with congenital heart disease. Patent ductus arteriosus occurs twice as often in girls as in boys.
Pulmonary atresia (PA)
Pulmonary atresia occurs in about one out of every 10,000 live births.
Pulmonary Stenosis (PS)
Depending on the severity of the pulmonary stenosis, open heart surgery may be needed to correct the defect. Another option may be a balloon valvuloplasty. This procedure is done in the cardiac catheterization lab.
Pulmonary stenosis is the second most common congenital heart defect, comprising 5 to 10 percent of all cases. It is a component of half of all complex congenital heart defects.
Right Ventricular Outflow Tract Obstruction (RVOTO)
Single Ventricle (SV)
In a single ventricle heart, there are two normal atria. These open into the ventricle through an atrio-ventricular (AV) valve. There might be two AV valves, both opening into the ventricle – a condition called Double Inlet Ventricle, or there may be one AV valve only, the other one being absent (atretic). The single ventricle connects with the aorta and pulmonary artery. These two great arteries may be normal or interchanged in position. Some patients have obstruction of the great arteries – pulmonary stenosis and sub-aortic stenosis.
The main problem with a single ventricle is the mixing of blood inside the ventricular chamber. Unoxygenated blood from the veins enters the right atrium and from there reaches the single ventricle. Oxygenated blood returning from the lungs flows into the left atrium and into the single ventricle. Inside the ventricle, both mix together. From here, the mixed blood flows into the aorta and pulmonary artery.
Patients with single-ventricle defects often need multiple operations. These include shunts such as Blalock-Taussig (B-T) or Glenn, placing a band on the pulmonary artery, or the Fontan operation. The Fontan operation largely separates the heart into two circulations. This lets oxygen-poor blood go to the lungs and oxygen-rich blood go to the body. The Fontan operation substantially reduces the mixing of blue and red blood and produces a normal or near-normal oxygen supply to the body. It also reduces the risk of a stroke or other complications, and decreases the workload on the single ventricle. A Fontan operation can’t be done if you have pulmonary hypertension (high blood pressure in the lungs).
Tetralogy of Fallot (TOF)
The ventricular septal defect is usually large and blood flows from the right ventricle through this VSD into the left ventricle. This occurs because of the resistance of blood flow through the pulmonary valve. Once the blood flows into the left ventricle, it is ejected into the aorta and delivers de-oxygenated blood into the body. Because there is de-oxygenated blood being delivered to the body, these babies may appear cyanotic, or “blue”. Open heart surgery is needed to correct this defect.
Tetralogy of Fallot occurs in about two out of every 10,000 live births. Tetralogy of Fallot occurs equally in boys and in girls.
Transposition of the Great Arteries (or Vessels) (TGA/TGV)
TGA occurs in 5 to 7 percent of all congenital heart defects. Sixty to 70 percent of the infants born with the defect are boys.
Total anomalous pulmonary venous drainage (TAPVR)
There are three main types of TAPVR, depending on where the pulmonary veins drain. There are referred to as supracardiac, intracardiac, and infracardiac. There may also be a mixed type, in which two or more types may coexist. Open heart surgery is needed in early infancy. The surgery involves removal of the pulmonary veins from the right atrium and attaching them left atrium. The ASD is also closed, along with any abnormal connections that may be present.
TAPVR occurs in one out of every 15,000 live births. It occurs in boys just as often as in girls.
Truncus arteriosus occurs in less than one out of every 10,000 live births. It makes up 1 percent of all cases of congenital heart disease.
Tricuspid atresia occurs in two out of every 10,000 live births. It makes up 1 to 2 percent of all cases of congenital heart disease. TA occurs equally in boys and girls.
Ventricular Septal Defect (VSD)
The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvar aortic stenosis or SVAS), or narrowing in the pulmonary arteries (Pulmonary Stenosis). There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary. See The Williams Syndrome Foundation for more information.
Here is a list of links to sites with information on other syndromes that may include heart problems:
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