Congenital Heart Disease Glossary of Terms

Abdominal: Relating to the abdomen, the belly , that part of the body that contains all of the structures between the chest and the pelvis . The abdomen is separated anatomically from the chest by the diaphragm , the powerful muscle spanning the body cavity below the lungs .
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Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Acne: Localized skin inflammation as a result of overactivity of the oil glands at the base of hair follicles. Acne happens when oil (sebaceous) glands come to life around puberty, when these glands are stimulated by male hormones that are produced in the adrenal glands of both boys and girls.
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Alagille syndrome: Also known as arteriohepatic dysplasia, this is a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face.
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Alcohol: An organic chemical in which one or more hydroxyl (OH) groups are attached to carbon (C) atoms in place of hydrogen (H) atoms. Common alcohols include ethyl alcohol or ethanol (found in alcoholic beverages), methyl alcohol or methanol (can cause blindness) and propyl alcohol or propanol (used as a solvent and antiseptic ). Rubbing alcohol is a mixture of acetone , methyl isobutyl ketone, and ethyl alcohol. In everyday talk, alcohol usually refers to ethanol as, for example, in wine, beer, and liquor. It can cause changes in behavior and be addictive.
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Anomaly: A deviation from the usual, something different, peculiar, or abnormal.
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Anticonvulsant: A medication used to control (prevent) seizures (convulsions) or stop an ongoing series of seizures. There are a large number of anticonvulsant drugs today including, but not limited to: phenobarbital, phenytoin (Dilantin), carbamazepine, ethosuximide (Zarontin), clonazepam (Klonopin), diazepam (Valium), lorazepam (Ativan), and midazolam (Versed). Anticonvulsant drugs taken during pregnancy put the baby at risk of major birth defects -- growth retardation, microcephaly (a small head) and deformities of the face and fingers -- a condition known as anticonvulsant embryopathy.

Aorta: The largest artery in the body, the aorta arises from the left ventricle of the heart, goes up (ascends) a little ways, bends over (arches), then goes down (descends) through the chest and through the abdomen to where ends by dividing into two arteries called the common iliac arteries that go to the legs.
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Aortic: Pertaining to the aorta , the largest artery in the body.
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Aortic stenosis: Narrowing (stenosis) of the heart valve between the left ventricle of the heart and the aorta. This narrowing impedes the delivery of blood through the aorta to the body and makes it tough for the heart to carry out this Herculean task. A normal aortic valve has three leaflets or cusps, but a stenotic valve may have only one cusp (unicuspid) or two cusps (bicuspid), which are thick. stiff and stenotic. Some children with aortic stenosis have chest pain, unusual fatigue, dizziness or fainting. Many children have few or no symptoms. The need for surgery depends on the degree of stenosis. Although surgery may enlarge the stenotic valve the valve remains deformed and eventually may need to be replaced with an artificial one. A procedure called balloon valvuloplasty has been used in some children with aortic stenosis. Persons with aortic stenosis need medical follow-up all their lives since even mild stenosis may worsen over time and need treatment.

Aortic valve: One of the four valves in the heart, this valve is situated at exit of the left ventricle of the heart where the aorta (the largest of all arteries) begins.
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Apert syndrome: A malformation syndrome characterized by a high short skull, underdevelopment of the midface, soft tissue and bony ("mitten glove") fusion of fingers and toes, fusion of the neck vertebrae, and varying degrees of developmental delay/mental retardation. The frequency of the syndrome rises with the age of the father reflecting the fact that the mutation rate among males rises with their age. Moreover, the mutation that causes Apert syndrome affords the sperm a selective advantage. The mutation is in the gene for fibroblast growth factor receptor 2 (FGFR2) on chromosome 10. Different mutations in FGFR2 are also responsible for two other similar genetic diseases, namely, Pfeiffer syndrome and Crouzon syndrome. See also: Acrocephalosyndactyly.

Arteriohepatic dysplasia: Also known as Alagille syndrome, this ia a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period. Cholestasis (stagnant flow of bile from the liver) then develops with puritis (itching), stools without the usual yellowing brown color, and enlargement of the liver and spleen. Peripheral pulmonic stenosis is a form of congenital heart disease (CHD). Other types of CHD also occur. The face has deep-set eyes, broad forehead, long nose with flat tip, prominence of the chin, and low-set or malformed ears. The outlook depends upon the degree of severity of the CHD and the liver disease (it can cause liver failure). The condition is an autosomal dominant trait meaning that the gene for it is on a non-sex chromosome (an autosome) and a single edition of the Alagille gene is sufficient to produce the disease. The gene has been discovered on chromosome 20 in band 20p12. The syndrome was first described by D. Alagille in the French medical literature in 1969.

Artery: A vessel that carries blood high in oxygen content away from the heart to the farthest reaches of the body. Since blood in arteries is usually full of oxygen, the hemoglobin in the red blood cells is oxygenated. The resultant form of hemoglobin (oxyhemoglobin) is what makes arterial blood look bright red.
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Asplenia: The absence of a spleen or one that functions. (The spleen can be functionally destroyed, as occurs in patients with sickle cell disease .)
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Atresia: Absence of a normal opening or failure of a structure to be tubular.
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Atria: The plural of atrium. The atria are the two smaller chambers of the heart. Each atrium consists of an open space with recessed walls.
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Atrial: Pertaining to the atria, the upper chambers of the heart, as in atrial fibrillation and atrial septal defect.

Atrium: One of the two smaller chambers of the heart. Each atrium consists of an open space with recessed walls. The plural of atrium is atria.
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Bicuspid: Having two flaps or cusps. The heart valve that is called the bicuspid valve is located between the left atrium and left ventricle. Although the aortic valve in the heart normally is tricuspid (with three cusps), it may sometimes be bicuspid.

Bicuspid aortic valve: Whereas the normal aortic valve in the heart has three flaps (cusps) that open and close, a bicuspid valve has only two. There may be no symptoms in childhood, but in time the valve may become stenotic (narrowed), making it harder for blood to pass through it, or the valve may start to let blood leak backwards through the valve (regurgitate). Treatment depends on how the valve is working.
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.

Blood pressure: The blood pressure is the pressure of the blood within the arteries. It is produced primarily by the contraction of the heart muscle. It's measurement is recorded by two numbers. The first (systolic pressure) is measured after the heart contracts and is highest. The second (diastolic pressure) is measured before the heart contracts and lowest. A blood pressure cuff is used to measure the pressure. Elevation of blood pressure is called "hypertension".

Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Breathing: The process of respiration, during which air is inhaled into the lungs through the mouth or nose due to muscle contraction, and then exhaled due to muscle relaxation.

Carbon dioxide: A gas which is the byproduct of cellular metabolism and which collects in the tissues, is cleared from the tissues by the blood within the veins, is carried by the hemoglobin in the red blood cells, and removed from the body via the lungs in the exhaled air. Abbreviated CO2.

Cardiac: Having to do with the heart.
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Cardiovascular: The circulatory system comprising the heart and blood vessels which carries nutrients and oxygen to the tissues of the body and removes carbon dioxide and other wastes from them.
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Cardiovascular disease: Disease affecting the heart or blood vessels.
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Cardiovascular system: The circulatory system which comprises the heart and blood vessels. The system carries nutrients and oxygen to the tissues of the body and removes carbon dioxide and other wastes from them.
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CHARGE association: A constellation of congenital malformations ( birth defects ). The name of the condition is an acronym of some of the most frequent features:

• C = Coloboma (cleft) of the eye (80% of cases) and Cranial nerve abnormalities,
• H = Heart malformation,
• A = Choanal Atresia (blockage of the nasal passageways) (58% of cases),
• R = Retardation of growth after birth (87% of cases) and Retardation of development (94% of cases),
• G = Genital hypoplasia (underdevelopment) in males (75% of cases) and urinary tract malformations, and
• E = Ear malformations and/or deafness (88% of cases).

Chest: The area of the body located between the neck and the abdomen . The chest contains the lungs , the heart and part of the aorta . The walls of the chest are supported by the dorsal vertebrae , the ribs , and the sternum .
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Chest pain: There are many causes of chest pain. One is angina which results from inadequate oxygen supply to the heart muscle. Angina can be caused by coronary artery disease or spasm of the coronary arteries. Chest pain can also be due to a heart attack (coronary occlusion) and other important diseases such as, for example, dissection of the aorta and a pulmonary embolism. Do not try to ignore chest pain and "work (or play) though it." Chest pain is a warning to seek medical attention.

Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .
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Choanae: The plural of choana.

Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Circulation: The movement of fluid in a regular or circuitous course. Although the noun "circulation" does not necessarily refer to the circulation of the blood, for all practical purposes today it does. Heart failure is an example of a problem with the circulation.

Circulatory: Having to do with the circulation, the movement of fluid in a regular or circuitous course. Although the adjective "circulatory" need not necessarily refer to the circulation of the blood, for all practical purposes today it does. A circulatory problem is taken usually to be a problem with the blood circulation, for example with heart failure.
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Coarctation: A narrowing, a stricture, a constriction. Although the best known coarctation is of the aorta, any artery can have a coarctation. The word "coarctation" comes from the Latin "coartare" meaning :to press together." The sides of the vessel at the point of a coarctation appear pressed together.

Coarctation of the aorta: A congenital constriction of the aorta, impeding the flow of blood below the level of the constriction and increasing blood pressure above the constriction. Symptoms may not be evident at birth but may develop as soon as the first week after birth with congestive heart failure or high blood pressure that call for early surgery. The surgery otherwise can be delayed. The outlook after surgery is favorable. Some cases have been treated by balloon angioplasty. The word "coarctation" comes from the Latin "coartare" meaning :to press together." The sides of the aorta at the point of a coarctation appear pressed together.

Coloboma: A congenital malformation (birth defect) in which part of the eye does not form due to failure of fusion of an embryonic feature called the intraocular fissure. The resultant coloboma can be likened to a missing slice from a pie that may involve a number of different structures within the eye including the choroid, iris, lens, optic nerve, and retina.
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Condition: The term "condition" has a number of biomedical meanings including the following:

1. An unhealthy state, such as in "this is a progressive condition."
2. A state of fitness, such as "getting into condition."
3. Something that is essential to the occurrence of something else; essentially a "precondition."
4. As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities. (For more examples, see below.)
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Congenital heart disease: A malformation of the heart or the large blood vessels near the heart. The term "congenital" speaks only to time, not to causation; it means "born with" or "present at birth."
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Cornelia de Lange syndrome: See: de Lange syndrome .
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Cutis: The skin. Cutis marmorata is marble skin, a normal response to cold. The word cutis is Latin for skin. See also: Cutis anserina; Cutis laxa.

Cutis laxa: A dermatologic condition characterized by unusually loose skin which may hang in pendulous folds. Cutis laxa is usually a genetic disorder. A mild autosomal dominant form can be caused by mutation in the elastin gene (the ELN gene). Mutations in the gene encoding fibulin-5 (FBLN5) can cause either autosomal dominant or a more severe autosomal recessive form of cutis laxa. There is also an X-linked type of cutis laxa.

Cyanosis: A bluish color of the skin and the mucous membranes due to insufficient oxygen in the blood. For example, the lips may show cyanosis. Cyanosis can be evident at birth, as in a "blue baby" who has a heart malformation that permits blood that is not fully oxygenated to enter the arterial circulation. Cyanosis can also appear at any time later in life.
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Cyanotic: Showing cyanosis (bluish discoloration of the skin and mucous membranes due to not enough oxygen in the blood). See: Cyanosis.

de Lange syndrome: A relatively common birth defect syndrome with multiple malformations and mental retardation of unknown origin.
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Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus . Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria).
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Diabetes mellitus: Better known just as " diabetes " -- a chronic disease associated with abnormally high levels of the sugar glucose in the blood. Diabetes is due to one of two mechanisms:
(1) Inadequate production of insulin (which is made by the pancreas and lowers blood glucose) or
(2) Inadequate sensitivity of cells to the action of insulin.
The two main types of diabetes correspond to these two mechanisms and are called insulin dependent (type 1) and non-insulin dependent (type 2) diabetes. In type 1 diabetes there is no insulin or not enough of it. In type 2 diabetes, there is generally enough insulin but the cells upon it should act are not normally sensitive to its action.
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Dizziness : Painless head discomfort with many possible causes including disturbances of vision, the brain, balance (vestibular) system of the inner ear, and gastrointestinal system. Dizziness is a medically indistinct term which laypersons use to describe a variety of conditions ranging from lightheadedness, unsteadiness to vertigo.
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DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA . In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
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Down syndrome : A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual.
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Ductus: A duct or walled passageway suitable for the conveyance of air or, more often in the body, liquids.
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Ductus arteriosus: A key arterial shunt (ductus) in fetal life. Before birth, blood pumped from the heart through the pulmonary artery toward the lungs is shunted into the aorta. This arterial shunt is a short vessel called the ductus arteriosus. When the shunt is open, it is said to be patent.
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Dysplasia: Abnormal in form. From the Greek dys- (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development.
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Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain.
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Endocardial: Pertaining to the endocardium, the inside lining of the heart.

Eye: The organ of sight. The eye has a number of components. These components include but are not limited to the cornea, iris, pupil, lens, retina, macula, optic nerve, choroid and vitreous.
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Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.

FAS: 1. Fetal alcohol syndrome.

2. The FAS gene.

Fetal alcohol syndrome: The sum total of the damage done to the child before birth as a result of the mother drinking alcohol during pregnancy. Fetal alcohol syndrome (FAS) always involves brain damage, impaired growth, and head and face abnormalities.
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Fetal circulation: The blood circulation in the fetus before birth. Before birth, the blood from the heart headed for the lungs in the aptly named pulmonary artery is shunted away from the lungs and returned to the greatest of arteries, the aorta. This arterial shunting occurs through a short vessel called the ductus arteriosus. When the shunt is open, it is said to be patent (pronounced pá tent). The ductus arteriosus usually tourniquets itself off at or shortly after birth. After closure of the ductus, blood is permitted from that time on to course freely to the lungs. Sometimes, however, the patent ductus arteriosus (PDA) persists and simply will not close by itself. Surgery is then done to ligate (tie off) the ductus. PDA ligation is a closed-heart operation. Historically, it was one of the earliest surgical procedures performed in children with cardiovascular disease.
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Fetus: The unborn offspring from the end of the 8^th week after conception (when the major structures have formed) until birth. Up until the eighth week, the developing offspring is called an embryo.

Foramen: A natural opening. Although a foramen is usually through bone, it can be an opening through other types of tissue, as with the foramen ovale in the heart. The plural of foramen is foramina.

Foramen ovale: An oval opening between the two upper chambers of the heart (the atria) that is a normal feature of the fetal and neonatal (newborn) circulation. The foramen ovale normally closes on its own by 3 months of age.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.

Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.
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Genetic disease: A disease caused by an abnormality in an individual's genome .
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Genital: Pertaining to the external and internal organs of reproduction. (Not to be confused with genetic.)

Glucose: The simple sugar (monosaccharide) that serves as the chief source of energy in the body. Glucose is the principal sugar the body makes. The body makes glucose from proteins, fats and, in largest part, carbohydrates. Glucose is carried to each cell through the bloodstream. Cells, however, cannot use glucose without the help of insulin . Glucose is also known as dextrose.
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Health: As officially defined by the World Health Organization, a state of complete physical, mental, and social well-being, not merely the absence of disease or infirmity.

Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Heart disease: Any disorder that affects the heart. Sometimes the term "heart disease" is used narrowly and incorrectly as a synonym for coronary artery disease. Heart disease is synonymous with cardiac disease but not with cardiovascular disease which is any disease of the heart or blood vessels. Among the many types of heart disease, see, for example: Angina; Arrhythmia; Congenital heart disease; Coronary artery disease (CAD); Dilated cardiomyopathy; Heart attack (myocardial infarction); Heart failure; Hypertrophic cardiomyopathy; Mitral regurgitation; Mitral valve prolapse; and Pulmonary stenosis.

Heart failure : Inability of the heart to keep up with the demands on it and, specifically, failure of the heart to pump blood with normal efficiency. When this occurs, the heart is unable to provide adequate blood flow to other organs such as the brain, liver and kidneys. Heart failure may be due to failure of the right or left or both ventricles. The signs and symptoms depend upon which side of the heart is failing. They can include shortness of breath (dyspnea), asthma due to the heart (cardiac asthma), pooling of blood (stasis) in the general body (systemic) circulation or in the liver's (portal) circulation, swelling ( edema ), blueness or duskiness (cyanosis), and enlargement (hypertrophy) of the heart.
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Heart murmur: An unusual heart sound which may be innocent or reflect disease.

Heart valves: There are four heart valves. All are one-way valves. Blood entering the heart first passes through the tricuspid valve and then the pulmonary valve. After returning from the lungs, the blood passes through the mitral (bicuspid) valve and exits via the aortic valve.

High blood pressure : Also known as hypertension, high blood pressure is, by definition, a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90.
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Hypertension: High blood pressure , defined as a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90.
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Hypoplasia: Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all.

Idiopathic: Of unknown cause. Any disease that is of uncertain or unknown origin may be termed idiopathic. For example, acute idiopathic polyneuritis , diffuse idiopathic skeletal hyperostosis , idiopathic pulmonary fibrosis , idiopathic scoliosis , etc.
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Indicate: In medicine, to make a treatment or procedure advisable because of a particular condition or circumstance. For example, certain medications are indicated for the treatment of hypertension during pregnancy while others are contraindicated.

Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person.
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Kartagener syndrome: A genetic syndrome characterized by sinusitis , bronchiectasis (widening and inflammation of the bronchi), dextrocardia (heart on the right side), and infertility. The syndrome is inherited in an autosomal recessive manner.
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Left atrium: The upper right chamber of the heart. The left atrium receives oxygenated blood from the lungs and pumps it down into the left ventricle which delivers it to the body.

Left heart: The heart is composed functionally of two hearts - the right heart and the left heart. The left heart consists of the left atrium which receives oxygenated blood from the lung and the left ventricle which pumps it out to the body under high pressure.

Limb: The arm or leg.

Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.

Lungs: The lungs are a pair of breathing organs located with the chest which remove carbon dioxide from and bring oxygen to the blood. There is a right and left lung.

Malformation: A structural defect in the body due to abnormal embryonic or fetal development. There are many types of malformations. For example, cleft lip and cleft palate. See also Congenital malformation.

Maternal: 1. Pertaining to the mother as, for example, the maternal mortality rate. 2. Related through the mother as, for example, the maternal grandparents. 3. Inherited from the mother as, for example, the maternal X chromosome.

Measles : An acute and highly contagious viral disease characterized by fever , runny nose, cough, red eyes, and a spreading skin rash . Measles , also known as rubeola, is a potentially disastrous disease. It can be complicated by ear infections, pneumonia , encephalitis (which can cause convulsions, mental retardation, and even death), the sudden onset of low blood platelet levels with severe bleeding (acute thrombocytopenic purpura), or a chronic brain disease that occurs months to years after an attack of measles (subacute sclerosing panencephalitis).
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Mitral valve: A valve in the heart situated between the left atrium and the left ventricle that permits blood to flow from the left atrium into the left ventricle but not in the reverse direction.
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Mitral valve prolapse : Drooping down or abnormal bulging of the mitral valve's cusps backward into the atrium during the contraction of the heart. Mitral valve prolapse is often an asymptomatic condition but it may be marked by mitral regurgitation with symptoms (as chest pain, fatigue, dizziness, dyspnea, or palpitations) with a tendency in some cases to endocarditis or ventricular tachycardia.
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Mother: (1) The female parent. (2) To produce offspring as a female. To attribute the maternity of. (3) A cell or other structure from which similar cells or structures are formed. Accordingly, such a cell might be referred to as the mother cell.(4) To provide maternal protection, guidance, and nurturing to children.
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Murmur: A sound due to vibrations from the flow of blood through the heart or great vessels. A murmur may be innocent and be of no significance. Or it may be pathologic and reflect disease. A murmur is usually heard with a stethoscope.

Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."

Nanism: Once known as dwarfism, this condition is now correctly called short stature.
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Obstruction: Blockage of a passageway. See, for example: Airway obstruction; Intestinal obstruction.

Outlet: The exit or opening. The means by which something escapes.

Oxygen: A colorless, odorless and tasteless gas that makes up about 20% of the air we breathe (and at least half the weight of the entire solid crust of the earth) and which combines with most of the other elements to form oxides. Oxygen is essential to human, animal and plant life.
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Oxygenating: Pertaining to the addition of oxygen, as to the human body. Oxygenating may refer to the process of treating a patient with oxygen, or to combining a medication or other substance with oxygen.

Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia . Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
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Patent ductus: Failure of the ductus arteriosus, which functions in fetal life as an arterial shunt, to close on schedule at or shortly after birth. When the shunt remains open, it is said to be patent. See: Patent ductus arteriosus.

Patent ductus arteriosus: Failure for the ductus arteriosus, an arterial shunt in fetal life, to close on schedule.
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PDA: Patent ductus arteriosus.

Pediatrics: "Pediatrics is concerned with the health of infants, children and adolescents, their growth and development, and their opportunity to achieve full potential as adults." (Richard E.Behrman in Nelson's Textbook of Pediatrics)
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Peripheral: Situated away from the center, as opposed to centrally located.
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Phenylketonuria : The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.
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PKU: Short for phenylketonuria. See: Phenylketonuria.

Placenta: A temporary organ joining the mother and fetus, the placenta transfers oxygen and nutrients from the mother to the fetus, and permits the release of carbon dioxide and waste products from the fetus. It is roughly disk-shaped, and at full term measures about seven inches in diameter and a bit less than two inches thick. The upper surface of the placenta is smooth, while the under surface is rough. The placenta is rich in blood vessels.
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Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Prenatal: Occurring or existing before birth.
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Probability: The likelihood that something will happen. For example, a probability of less than .05 indicates that the probability of something occurring by chance alone is less than 5 in 100, or 5 percent. This level of probability is usually taken as the level of biologic significance, so a higher incidence may be considered meaningful. The abbreviation for probability is P.

Pulmonary: Having to do with the lungs. (The word comes from the Latin pulmo for lung).

Pulmonary artery: One of the two vessels which are formed as terminal branches of the pulmonary trunk and convey unaerated blood to the lungs. The two pulmonary arteries differ in length and anatomy.
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Pulmonary hypertension : High blood pressure in the pulmonary artery that conveys blood from the right ventricle to the lungs. The pressure in the pulmonary artery is normally low compared to that in the aorta . Pulmonary hypertension can irrevocably damage the lungs and cause failure of the right ventricle.
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Pulmonary stenosis: The pulmonary valve is too tight so that the flow of blood from the right ventricle of the heart into the pulmonary artery is impeded. This means the right ventricle must pump harder than normal to overcome the obstruction. If the stenosis is severe, babies may become blue (cyanotic). Older children often have no symptoms. Treatment is needed if the pressure in the right ventricle is higher than normal. The obstruction can usually be relieved by a procedure called balloon valvuloplasty or by open heart surgery during which the stenotic valve is opened. The outlook after either procedure is favorable.

Radius: In anatomy , the radius is the smaller of the two bones on the thumb side of the forearm . (The bigger one is the ulna ).
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Renal: Having to do with the kidney. From the Latin renes (the kidneys), which gave the French les reins which mean both the kidneys and the lower back.

Right atrium: The right upper chamber of the heart. The right atrium receives deoxygenated blood from the body through the vena cava and pumps it into the right ventricle which then sends it to the lungs to be oxygenated.

Right heart: The heart is composed functionally of two hearts - the right heart and the left heart. The right heart consists of the right atrium which receives deoxygenated blood from the body and the right ventricle which pumps it to the lungs. The right heart is a low pressure system.

Right ventricle: The lower right chamber of the heart that receives deoxygenated blood from the right atrium and pumps it under low pressure into the lungs via the pulmonary artery.
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Section: 1) In anatomy, a slice of tissue. A biopsy obtained by surgery is usually sectioned (sliced), and these sections are inspected under a microscope. 2) In obstetrics, short for Caesarian section. 3) In surgery, the division of tissue during an operation.

Sense: In biology and medicine, the faculty of sensory reception. The ability to convey specific types of external or internal stimuli to the brain and perceive them. Sensory reception occurs through a process known as transduction in which stimuli are converted into nerve impulses which are relayed to the brain.
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Septum: A word borrowed from the Latin "saeptum" meaning a "dividing wall or enclosure."
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Sex chromosome: The X chromosome or the Y chromosome, in humans. The sex chromosomes determine the sex of an individual. As a general rule, normal females have two X chromosomes while normal males have an X and a Y chromosome. The sex chromosomes evolved from an ancient pair of autosomal chromosomes. The X is considerably larger and richer in genes than the Y. The X contains 153 M bp (mega base pairs) and 1095 genes while the Y contains 50 M bp and 148 genes. The sex chromosomes, by convention, are the 23rd and last pair of chromosomes in a normal human karyotype.

Shunt: 1) To move a body fluid, such as cerebrospinal fluid, from one place to another. 2) A catheter (tube) that carries cerebrospinal fluid from a ventricle in the brain to another area of the body. A shunt may be placed to relieve pressure from hydrocephalus, for example.

Sign: Any objective evidence of disease. Gross blood in the stool is a sign of disease. It can be recognized by the patient, doctor, nurse, or others. In contrast, a symptom is, by its nature, subjective. Abdominal pain is a symptom. It is something only the patient can know.
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Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.

Smith-Lemli-Opitz syndrome: A multiple congenital malformation syndrome caused by an abnormality in cholesterol metabolism, deficiency of the enzyme 7-dehydrocholesterol reductase (DHCR7), due to mutation of the DHCR7 gene on chromosome 11.
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Spleen: An organ located in the upper left part of the abdomen near the stomach . The spleen produces lymphocytes ; it is the largest lymphatic organ in the body. The spleen also filters the blood, serves as a major reservoir for blood and destroys blood cells that are aged.
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Stenosis: A narrowing, as in:

• aortic stenosis (narrowing of the aortic valve of the heart),
• pulmonary stenosis (narrowing of the pulmonary valve of the heart),
• pyloric stenosis (narrowing of the outlet of the stomach), and
• spinal stenosis (narrowing of the vertebral canal).

Subaortic stenosis: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta . The narrowing cuts the flow of blood. Subaortic stenosis may be congenital (present at birth) or acquired as part of a particular form of heart disease known as "idiopathic hypertrophic subaortic stenosis" (IHSS). Treatment options include drugs and surgery.
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Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Syncope: Partial or complete loss of consciousness with interruption of awareness of oneself and ones surroundings. When the loss of consciousness is temporary and there is spontaneous recovery, it is referred to as syncope or, in nonmedical quarters, fainting . Syncope accounts for one in every 30 visits to an emergency room. It is pronounced sin-ko-pea.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Tetralogy of Fallot: A combination of four heart defects that are present together at birth, accounting for about 10% of all congenital heart disease.
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Tricuspid: Having three flaps or cusps. The valve that is called the tricuspid valve is situated between the right atrium and right ventricle and permits blood to flow only from the atrium into the ventricle. The aortic valve in the heart also has three cusps.
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Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 ( Patau syndrome ), trisomy 18 syndrome ( Edwards syndrome ) and trisomy 21 ( Down syndrome ). The most common trisomy among spontaneous abortions is trisomy 16.
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Turner syndrome: A chromosome disorder in females that is characterized by the absence of all or part of a second sex chromosome in some or all cells. The condition occurs in 1 in 2,500 to 3,000 girls born.
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Unconscious: 1. Interruption of awareness of oneself and one's surroundings, lack of the ability to notice or respond to stimuli in the environment. A person may become unconscious due to oxygen deprivation, shock, central nervous system depressants such as alcohol and drugs, or injury.
2. In psychology, that part of thought and emotion that happens outside everyday awareness.

VATER association: A nonrandom association of birth defects. VATER is an mnemonic in which the letters V, A, T, E, and R each stand for one or more type of malformation. The VATER association has been extended and is now called the VACTERL association. See: VACTERL association.

Ventricle: A chamber of an organ. For example, the four connected cavities (hollow spaces) in the central portion of the brain and the lower two chambers of the heart are called ventricles.

Ventricles: 1, The right ventricle and the left ventricle, the lower two chambers of the heart. 2. Two or more of the four connected spaces within the central portion of the brain.

Ventricular: Pertaining to the ventricles, the lower chambers of the heart, as in ventricular fibrillation and ventricular septal defect.

VSD: A Ventricular Septal Defect , a hole in the septum (the wall) between the lower chambers of the heart (the ventricles).
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Williams syndrome: A genetic disorder characterized by mild mental retardation, unique personality characteristics, unusual facial features, and cardiovascular disease. The level of calcium tends to be high in blood (hypercalcemia) and urine (hypercalciuria).
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X chromosome: A sex chromosome found in both females and males. Normal females usually have two X chromosomes. Normal males usually have one X along with a Y chromosome . The complete chromosome complement consisting of 46 chromosomes is conventionally written as 46,XX for females and 46,XY for males.
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From the Doctors at MedicineNet.com

Electrocardiogram (ECG or EKG) - Read about the Electrocardiogram (ECG, EKG) procedure to test the electrical activity of the heart. Source:MedicineNet Questions To Ask Before Surgery - Surgery questions to ask prior to having a procedure are important. Your surgeon should be available to answer your surgery questions prior to the procedure. Source:MedicineNet Chest X-ray - A chest x-ray is a radiology test that involves exposing the chest briefly to radiation to produce an image of the chest and the internal organs of the chest. chest x-ray can be used to define abnormalities of the lungs such as excessive fluid, pneumonia, bronchitis, asthma, cysts, and cancers. Source:MedicineNet Read 54 more Congenital Heart Disease related articles ... Postmenopausal Women's Sexual Dissatisfaction Not Linked to Heart Troubles ADHD Drugs: Heart Screen Recommended Heart's Stem Cells Not Created Equally