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CONGENITAL HEART DISEASE (wikipedia) A congenital heart defect (CHD) is a defect in the structure of the heart and great

vessels of a newborn. Most heart defects either obstruct blood flow in the heart or vessels near it or cause blood to flow through the heart in an abnormal pattern, although other defects affecting heart rhythm (such as long QT syndrome) can also occur. Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths. Overview A congenital heart defect is one that develops in the womb and is present at birth. After birth, congenital heart defects can be broadly categorised into two groups: acyanotic heart defects ("pink" babies) and cyanotic heart defects ("blue" babies). Epidemiology Affecting approximately one in every 125 babies born, congenital heart defects are the most common birth defect (March of Dimes)[1]. Forty thousand people are born each year with a CHD; 4,000 will not survive their first year(The Children's Heart Foundation). Twice as many children die each year from a CHD than all forms of Pediatric Cancers combined (The Children's Heart Foundation). The eight most common defects account for 80% of all congenital heart diseases, while the remaining 20% consist of many independently infrequent conditions or combinations of several defects. Ventricular septal defect (VSD) is generally considered to be the most common type of malformation, accounting for about 1/3 of all congenital heart defects. The incidence is higher when a parent or a sibling has a heart defect (45%), in stillborns (34%), abortuses (1025%), and premature infants (2%). The number of adults with problems connected to a congenital heart defect is rising, passing the number of children with congenital heart defects in most Western countries. This group is referred to as grown-up congenital heart disease (GUCH) patients. Etiology The cause of most congenital heart defects is unknown. Where a cause is known, it may be of a multifactorial origin and/or a result of genetic predisposition and environmental factors. Known genetic causes of heart disease includes chromosomal abnormalities such as trisomies 21, 13, and 18, as well as a range of newly recognised genetic point mutations, point deletions and other genetic abnormalities as seen in syndromes such as CATCH 22, familial ASD with heart block, Alagille syndrome, Noonan syndrome, and many more. Known antenatal environmental factors include maternal infections (Rubella), drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).

Relation of congenital heart defects with sex According to "Teratological rule of sexual dimorphism" (V. Geodakian, 1970), inborn anomalies that have atavistic nature appear more frequently among females, and futuristic anomalies appear among males. This rule was applied to explain differences in sex ratio observed for congenital heart defects.[1][2] In the 32,000 diagnoses of "female" malformations, those relating to the heart of the embryo and to the phylogenetic human predecessors predominated (Table). The most well-defined female's defects are patent ductus arteriosus (1 : 2.72), Lutembacher disease (1 : 2.1), and ostium secundum (1 : 1.84). Most well-defined "male" congenital heart defects are: aortic stenosis (2.66 : 1), coarctation of the aorta (2.14 : 1), transpositions of the great arteries (1.90 : 1), a total anomalous pulmonary venous connection (1.39 : 1), and coarctation of aorta with an open arterial channel (1.37 : 1). None of the male's components of congenital heart defects have a corresponding similar formation at normal embryo or at phylogenetic predecessors of the humans. They can be considered as unsuccessful tests of the evolution process. Other congenital heart defects are of a neutral type. The frequency of occurrence is about the same for both sexes. Among them it is also possible to allocate simple (Potts/Waterston-Cooley shunt and ostium primum) and complex (partial and full atrioventricular canal, Ebstain's anomaly and tricuspid atresia) defects. Simple defects of this group, as well as female defects, can be considered atavistic. The difference between them is that these defects, contrary to female ones, represent a return to the far past in the onthogenetic and phylogenetic sense. They can be considered as a consequence of a block in heart development at early stages of embriogenesis (the first 2-3 months of the embryo's life during which the anatomic formation of the heart occurs), and at earlier (in comparison to female defects) stages of phylogenesis. For complex defects of the neutral group, the sex ratio depends on which of their components prevailfemale or male. Rokitansky (1875) explained congenital heart defects as breaks in heart development at various ontogenesis stages.[3] Spitzer (1923) treats them as returns to one of the phylogenesis stages. [4] Krimsky (1963), synthesizing two previous points of view, considered congenital heart diseases as a stop of development at a certain stage of ontogenesis, corresponding to this or that stage of the phylogenesis. [5] Hence these theories can explain atavistic heart diseases only (feminine and neutral, according to our classification), and no explanation has been found for masculine defects. The concept allows considering sex of the patient as a diagnostic symptom. This symptom is stable and cheap and does not harm the patient compared to some invasive diagnostic procedures. Major categories Patent ductus arteriosus The ductus arteriosus is a temporary pathway in the foetal heart between the pulmonary artery and aorta, which allows blood to bypass the fetus's nonfunctioning lungs until birth. Normally, the ductus closes within a few hours or days of birth; when it does not, the result is patent ductus arteriosus. This defect is common in premature infants but rare in full-term infants.

Hypoplasia Hypoplasia can affect the heart, which typically results in the failure of either the right ventricle or the left ventricle to develop adequately, leaving only one side of the heart capable of pumping blood to the body and lungs. Hypoplasia of the heart is rare but is the most serious form of CHD; it is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome when it affects the right side of the heart. In both conditions, the presence of a patent ductus arteriosus (and, when hypoplasia affects the right side of the heart, a patent foramen ovale) is vital to the infant's ability to survive until emergency heart surgery can be performed, since without these pathways blood cannot circulate to the body (or lungs, depending on which side of the heart is defective). Hypoplasia of the heart is generally a cyanotic heart defect. Obstruction defects Obstruction defects occur when heart valves, arteries, or veins are abnormally narrow or blocked. Common obstruction defects include pulmonary valve stenosis, aortic valve stenosis, and coarctation of the aorta, with other types such as bicuspid aortic valve stenosis and subaortic stenosis being comparatively rare. Any narrowing or blockage can cause heart enlargement or hypertension. Septal defects The septum is a wall of tissue which separates the left heart from the right heart. It is comparatively common for defects to exist in the interatrial septum or the interventricular septum, allowing blood to flow from the left side of the heart to the right, reducing the heart's efficiency. Ventricular septal defects are collectively the most common type of CHD, although approximately 30% of adults have a type of atrial septal defect called patent foramen ovale. Septal defects may or may not cause cyanosis depending on the severity of the defect. Cyanotic defects Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration of the skin due to a lack of oxygen in the body. Such defects include persistent truncus arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot, transposition of the great vessels, and tricuspid atresia. Other defects

Ebstein's anomaly Brugada syndrome Marfan syndrome DiGeorge Syndrome

Signs and Symptoms Symptoms and signs are related to the type and severity of the heart defect. Some children have no signs while others may exhibit shortness of breath, cyanosis, chest pain, syncope, sweating, heart murmur, respiratory infections, underdeveloping of limbs and muscles, poor feeding, or poor growth. Most defects cause a whispering sound, or murmur, as blood moves through the heart causing some of

these symptoms. All of these symptoms occur at a young age of a child or infant and are typically found during a physical examination. Treatment Sometimes CHD improves with no treatment necessary. At other times the defect is so small and does not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the baby in eliminating water, salts, and digoxin and in strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to repair as much as possible to restore circulation back to normal. In some cases, multiple surgeries are needed to be performed to help balance the circulation. Interventional cardiology now offers patients minimally invasive alternatives to surgery. Device closures can now be treated with a standard transcatheter procedure using a closure device mounted on a balloon catheter.


Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth. Congenital means present at birth. Causes Congenital heart disease (CHD) can describe a number of different problems affecting the heart. According to the American Heart Association, about 35,000 babies are born each year with some type of congenital heart defect. Congenital heart disease is responsible for more deaths in the first year of life than any other birth defects. Many of these defects need to be followed carefully. Some heal over time, others will require treatment. While congenital heart disease is present at birth, the symptoms may not be immediately obvious. Defects such as coarctation of the aorta may not cause problems for many years. Other problems, such as a small ventricular septal defect (VSD), may never cause any problems, and some people with a VSD have normal physical activity and a normal life span. Some congenital heart diseases can be treated with medication alone, while others require one or more surgeries. The risk of death from congenital heart disease surgery has dropped from about 30% in the 1970s to less than 5% in most cases today. Congenital heart disease is often divided into two types: cyanotic (blue discoloration caused by a relative lack of oxygen) and non-cyanotic. The following lists cover the most common of the congenital heart diseases: Cyanotic:

Tetralogy of Fallot Transposition of the great vessels Tricuspid atresia Total anomalous pulmonary venous return Truncus arteriosus Hypoplastic left heart Hypoplastic right heart Some forms of total anomalous pulmonary venous return Ebstein's anomaly


Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Aortic stenosis Pulmonic stenosis Coarctation of the aorta Atrioventricular canal (endocardial cushion defect)

These problems may occur alone or together. The majority of congenital heart diseases occurs as an isolated defect and is not associated with other diseases. However, they can also be a part of various genetic and chromosomal syndromes such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, Ellis-van Creveld syndrome. No known cause can be identified for most congenital heart defects. Congenital heart diseases continue to be investigated and researched. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.

Ventricular septal defect describes one or more holes in the wall that separates the right and left ventricles of the heart. Ventricular septal defect is one of the most common congenital (present from birth) heart defects. Causes Before a baby is born, the right and left ventricles of its heart are not separate. As the fetus grows, a wall forms to separate these two ventricles. If the wall does not completely form, a hole remains. This hole is known as a ventricular septal defect, or a VSD. It is estimated that up to 1% of babies are born with this condition. The baby may have no symptoms, and the hole can eventually close as the wall continues to grow after birth. If the hole is large, then too much blood will be pumped to the lungs, leading to congestive heart failure. These babies are often have symptoms related to heart failure and may need medicine to control the symptoms and surgery to close the hole. The cause of VSD is not yet known. This defect often occurs along with other congenital heart defects. In adults, interventricular septal defects are a rare, but serious complication of heart attacks. These holes are related to the heart attack and do not result from a birth defect. Symptoms

Shortness of breath Fast breathing Hard breathing Paleness Failure to gain weight Fast heart rate Pounding heart Sweating while feeding Frequent respiratory infections

Exams and Tests Listening with a stethoscope usually reveals a heart murmur (the sound of the blood crossing the hole). The loudness of the murmur is related to the size of the defect and amount of blood crossing the defect.

Tests may include:

Chest x-ray -- looks to see if there is a large heart with fluid in the lungs ECG -- shows signs of an enlarged left ventricle Echocardiogram -- used to make a definite diagnosis Cardiac catheterization (rarely needed, unless there are concerns of high blood pressure in the lungs, in which case surgery to close the defect is generally not recommended)

Treatment If the defect is small, no treatment is usually needed. However, the baby should be closely monitored by a health care provider to make sure that the hole eventually closes properly and signs of heart failure do not occur. With congestive heart failure, medications such as digitalis (digoxin) and diuretics may be prescribed. Regardless of the size of the defect, all children with a VSD need to take antibiotics before undergoing dental work and certain other invasive procedures. If symptoms continue despite medication, surgery to close the defect with a Gore-tex patch is needed. Some VSDs can be closed with a special device during a catheterization. Treating a VSD that does not have symptoms is controversial, and should be carefully discussed with your health care provider. Outlook (Prognosis) Many small defects will close on their own. For those defects that do not spontaneously close, the outcome is good with surgical repair. Complications may result if a large defect is not treated. Possible Complications

Congestive heart failure Infective endocarditis (bacterial infection of the heart) Aortic insufficiency (leaking of the valve that separates the left ventricle from the aorta) Damage to the electrical conduction system of the heart during surgery (causing arrhythmias) Delayed growth and development (failure to thrive in infancy) Pulmonary hypertension (high blood pressure in the lungs) leading to failure of the right side of the heart

Atrial septal defect (ASD) is a congenital heart defect in which the wall that separates the upper heart chambers (atria) does not close completely. Congenital means the defect is present at birth. Causes In fetal circulation, there is normally an opening between the two atria (the upper chambers of the heart) to allow blood to bypass the lungs. This opening usually closes around the time the baby is born. If the ASD is persistent, blood continues to flow from the left to the right atria. This is called a shunt. If too much blood moves to the right side of the heart, pressures in the lungs build up. The shunt can be reversed

so that blood flows from right to left. Many problems can occur if the shunt is large, but small atrial septal defects often cause very few problems and may be found much later in life. ASD is not very common. When the person has no other congenital defect, symptoms may be absent, particularly in children. Symptoms may begin any time after birth through childhood. Individuals with ASD are at an increased risk for developing a number of complications including:

Atrial fibrillation (in adults) Heart failure Pulmonary overcirculation Pulmonary hypertension Stroke

Symptoms Small-to-moderate-sized defects may produce no symptoms, or not until middle age or later. Symptoms that may occur can include:

Difficulty breathing (dyspnea) Frequent respiratory infections in children Sensation of feeling the heart beat (palpitations) in adults Shortness of breath with activity

Exams and Tests The doctor may heart abnormal heart sounds when listening to the chest with a stethoscope. A murmur may be heard only in certain body positions, and sometimes a murmur may not be heard at all. The physical exam may also reveal signs of heart failure in some adults. If the shunt is large, increased blood flow across the tricuspid valve may create an additional murmur when the heart relaxes between beats. Tests that may done include:

Cardiac catheterization Chest x-ray Coronary angiography (for patients over 35 years old) Doppler study of the heart ECG Echocardiography Heart MRI Transesophageal echocardiography (TEE)

Treatment ASD may not require treatment if there are few or no symptoms, or if the defect is small. Surgical closure of the defect is recommended if the defect is large, the heart is swollen, or symptoms occur. A procedure has been developed to close the defect without surgery. The procedure involves placing an ASD closure device into the heart through tubes called catheters. The health care provider makes a tiny surgical cut in the groin, then inserts the catheters into a blood vessel and up into the heart. The closure device is then placed across the ASD and the defect is closed.

Not all patients with atrial septal defects can have this procedure. Prophylactic (preventive) antibiotics should be given prior to dental procedures to reduce the risk of developing infective endocarditis immediately after surgery for the ASD, but they are not required later on. Outlook (Prognosis) With a small-to-moderate atrial septal defect, a person may live a normal life span without symptoms. Larger defects may cause disability by middle age because of increased blood flow and shunting of blood back into the pulmonary circulation. Possible Complications

Arrhythmias, particularly atrial fibrillation Heart failure Pulmonary hypertension Stroke

Patent ductus arteriosus (PDA) is a condition in which a blood vessel called the ductus arteriosus fails to close normally in an infant soon after birth. (The word "patent" means open.) The condition leads to abnormal blood flow between the aorta and pulmonary artery, two major blood vessels surrounding the heart. Causes Before birth, the ductus arteriosus allows blood to bypass the baby's lungs by connecting the pulmonary arteries (which supply blood to the lungs) with the aorta (which supplies blood to the body). Soon after the infant is born and the lungs fill with air, this blood vessel is no longer needed. It will usually close within a couple of days. If the ductus arteriosus does not close, there will be abnormal blood circulation between the heart and lungs. PDA is rare. It affects girls more often than boys. The condition is more common in premature infants and those with neonatal respiratory distress syndrome. Infants with genetic disorders, such as Down syndrome, and whose mothers had German measles (rubella) during pregnancy are at higher risk for PDA. PDA is common in babies with congenital heart problems, such as hypoplastic left heart syndrome, transposition of the great vessels, and pulmonary stenosis. Symptoms A small PDA may not cause any symptoms. However, most infants do not tolerate a PDA and may have symptoms such as:

Bounding pulse Fast breathing Poor feeding habits Shortness of breath Sweating while feeding Tiring very easily

Poor growth

Exams and Tests Babies with PDA often have a characteristic heart murmur that can be heard with a stethoscope. However, in premature infants, a heart murmur may not be heard. Doctor's may suspect the condition if the infant has breathing or feeding problems soon after birth. Changes may be seen on chest x-rays. The diagnosis is confirmed with an echocardiogram. Sometimes, a small PDA may not be diagnosed until later in childhood. Treatment The goal of treatment, if the rest of circulation is normal or close to normal, is to close the PDA. In the presence of certain other heart problems, such as hypoplastic left heart syndrome, the PDA may actually be lifesaving. Sometimes, a PDA may close on its own. Premature babies have a high rate of closure within the first 2 years of life. In full-term infants, a PDA rarely closes on its own after the first few weeks. When treatment is appropriate, medications such as indomethacin or a special form of ibuprofen are generally the first choice. If these measures do not work or can't be used, a medical procedure may be needed. A transcatheter device closure is a minimally invasive procedure that uses a thin, hollow tube. The doctor passes a small metal coil or other blocking device through the catheter to the site of the PDA. This blocks blood flow through the vessel. Such endovascular coils have been used successfully as an alternative to surgery. There is no agreement about which young babies are most likely to benefit from surgery if medications are not going to help, and which babies would be better off untreated. Surgery may be needed if the catheter procedure does not work or cannot be used. Surgery involves making a small cut between the ribs to repair the PDA. Surgical treatment of PDAs may be performed on older children even if they have no symptoms because the PDA will not close by itself. Outlook (Prognosis) If a small PDA remains open, heart symptoms may or may not eventually develop. Persons with a moderate or large PDA will usually develop heart problems sooner or later unless the PDA is closed. Closure with medications can work very well in some situations, with few side effects. Early treatment with medications is more likely to be successful. Surgery carries its own significant risks. It may eliminate some of the problems of a PDA, but it can also introduce a new set of problems. The potential benefits and risks should be weighed carefully before choosing surgery.

Possible Complications If the patent ductus is not closed, the infant has a risk of developing heart failure, bleeding in the lungs, problems with lung development, or infective endocarditis -- an infection of the inner lining of the heart.

Tetralogy of Fallot refers to four types of heart defects present at birth (congenital). Causes Tetralogy of Fallot is classified as a cyanotic heart defect because the condition causes too little oxygen levels in the blood, which leads to cyanosis (a bluish-purple coloration to the skin). The classic form of Tetralogy includes 4 defects within the heart structures:

Ventricular septal defect (hole between the right and left ventricles) Narrowing of the pulmonary outflow tract (tube that connects the heart with the lungs) An aorta (tube that carries oxygenated blood to the body) that grows from both ventricles, rather than exclusively from the left ventricle A thickened muscular wall of the right ventricle (right ventricular hypertrophy)

At birth, infants may not show the signs of the cyanosis, but later may develop sudden frightening episodes (called "Tet spells") of bluish skin from crying or feeding. Tetralogy of Fallot occurs in approximately 5 out of 10,000 infants. The cause of most congenital heart defects is unknown. Multiple factors seem to be involved. Prenatal factors associated with higher than normal risk for this condition include maternal rubella or other viral illnesses during pregnancy, poor prenatal nutrition, maternal alcoholism, mother over 40 years old, and diabetes. There is a high incidence of chromosomal disorders in children with tetralogy of Fallot, such as Down syndrome and Di George's syndrome (a partial gene deletion that results in heart defects, low calcium levels, and immune deficiency.) Symptoms

Difficult feeding (poor feeding habits) Failure to gain weight Poor development Cyanosis which becomes more pronounced during periods of agitation Passing out Sudden death Clubbing of fingers (skin or bone enlargement around the finger nails) Squatting during episodes of cyanosis

Exams and Tests A physical examination with a stethoscope almost always reveals a heart murmur.

Tests may include:

EKG (electrocardiogram) may show the thickening of the right ventricle muscle CBC may show an increase in red blood cells Chest x-ray may show a "boot shaped" heart and dark lungs Cardiac catheterization helps show blood vessels in the lungs and heart Echocardiogram provides a definite diagnosis

Treatment Surgery to repair heart defects is always done when the infant is very young. Sometimes more than one surgery is needed. The first surgery may be done to help increase blood flow to the lungs, and a surgery to correct the problem is done at a later time. Corrective surgery is done to widen part of the narrowed pulmonary tract and close the ventricular septal defect. Tips for parents of children with tetralogy of Fallot:

If a child does become blue, immediately place the child on his or her side and put the knees up to the chest. Calm the baby and seek medical attention Feed the child slowly Give smaller, more frequent meals Decrease the child's anxiety by remaining calm Minimize crying by trying to anticipate the child's needs Recruit others to care for the child to prevent yourself from becoming exhausted

Outlook (Prognosis) Most cases can be corrected with surgery. Babies that have surgery usually do well. Without surgery, death usually occurs when the person reaches age 20. Patients who have continued, severe leakiness of the pulmonary valve may need the valve replaced. Regular follow up with a cardiologist to monitor for life-threatening arrhythmias (irregular heart rhythms) is recommended. Possible Complications

Delayed growth and development Seizures during periods of insufficient oxygen