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).
Anomaly: A deviation from the usual, something different, peculiar, or abnormal. See the entire definition of Anomaly
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. See the entire definition of Atria
Atrioventricular node: The atrioventricular (AV) node is an electrical relay station between the atria (the upper) and the ventricles (the lower chambers of the heart). Electrical signals from the atria must pass through the AV node to reach the ventricles. See the entire definition of Atrioventricular node
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. See the entire definition of Atrium
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.
Bypass: An operation in which a surgeon creates a new tubular pathway for the movement of fluids and/or other substances in the body.
Cardiac: Having to do with the heart.
Cardiac muscle: A type of muscle with unique features only found in the heart. The cardiac muscle is the muscle of the heart and medically is called the myocardium ("myo-" being the prefix renoting muscle).
Cardiomyopathy: Disease of the heart muscle (the myocardium). From the Greek roots: "cardio-", heart + "mys", muscle + "pathos", disease = disease (of the) heart muscle.
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
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. See the entire definition of Chest
Cluster: In epidemiology, an aggregation of cases of a disease or another health-related condition, such as a cancer or birth defect, closely grouped in time and place. The number of cases in the cluster may or may not exceed the expected number. This is determined by cluster analysis, a set of statistical methods used to analyze clusters.
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. See the entire definition of Dizziness
Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions, converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist. See the entire definition of Enzyme
Familial: A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis) or environmental (such as tuberculosis).
Family history: The family structure and relationships within the family, including information about diseases in family members. See the entire definition of Family history
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Genetic: Having to do with genes and genetic information.
Genetics: The scientific study of heredity. Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc. See the entire definition of Genetics
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. See the entire definition of Heart
Hypertrophic cardiomyopathy: A genetic disorder of the heart characterized by increased thickness (hypertrophy) of the wall of the left ventricle, the largest of the four chambers of the heart. The disease can present at any time in life. It is the leading cause of sudden death in athletes and young people. Abbreviated HCM. It is inherited in an autosomal dominant manner. Men and women with HCM stand a 50-50 chance of transmitting the HCM gene to each of their children. See the entire definition of Hypertrophic cardiomyopathy
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.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
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."
Node: Literally a knot, a node is a collection of tissue. For example a lymph node, is a collection of lymphoid tissue. A nodule is a small node, a little collection of tissue.
Palpitations: Unpleasant sensations of irregular and/or forceful beating of the heart. In some patients with palpitations, no heart disease or abnormal heart rhythms can be found. In others, palpitations result from abnormal heart rhythms (arrhythmias). Arrhythmias refer to heartbeats that are too slow, too rapid, irregular, or too early.
Paralysis: Loss of voluntary movement (motor function). Paralysis that affects only one muscle or limb is partial paralysis, also known as palsy; paralysis of all muscles is total paralysis, as may occur in cases of botulism.
Pompe disease: A genetic (inherited) deficiency of an enzyme called acid alpha glucosidase. This enzyme helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and other muscles, causing extensive damage. Pompe disease, also known as type 2 glycogen storage disease, is one of several types of glycogen storage disease. See the entire definition of Pompe disease
Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Protein
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 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. See the entire definition of Right ventricle
Sclerosis: Localized hardening of skin.
Sensation: In medicine and physiology, sensation refers to the registration of an incoming (afferent) nerve impulse in that part of the brain called the sensorium, which is capable of such perception. Therefore, the awareness of a stimulus as a result of its perception by sensory receptors. (Sensory is here synonymous with sensation.) See the entire definition of Sensation
Shortness of breath: Difficulty in breathing. Medically referred to as dyspnea. Shortness of breath can be caused by respiratory (breathing passages and lungs) or circulatory (heart and blood vessels) conditions. See also dyspnea.
Sporadic: Occurring upon occasion or in a scattered, isolated or seemingly random way. See the entire definition of Sporadic
Supraventricular tachycardia: Abbreviated SVT. A regular, abnormally fast heart beat (tachycardia) caused by rapid firing of electrical impulses from a focus above the atrioventricular node (A-V node) in the heart. Called supraventricular because the tachycardia originates above the ventricles of the heart.
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. See the entire definition of Syncope
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. See the entire definition of Syndrome
Tachycardia: A rapid heart rate, usually defined as greater than 100 beats per minute. The tachycardias include sinus tachycardia, paroxysmal atrial tachycardia (PAT), and ventricular tachycardia. See the entire definition of Tachycardia
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.
Tricuspid valve:One of the four heart valves, the tricuspid valve is the first one that blood encounters as it enters the heart. The tricuspid valve stands between the right atrium and right ventricle and allows blood to flow only from the atrium into the ventricle.
Tuberous sclerosis: A genetic disorder characterized by abnormalities of the skin, brain, kidney, and heart. The skin abnormalities are present in all cases and may include tiny benign tumors (angiofibroma) on the face and depigmented areas anywhere on the body. The brain abnormalities are mainly benign cortical tumors (tubers) which cause seizures, developmental delay, and mental retardation. The kidneys often contain multiple cysts and benign tumors (angiomyolipomas). The heart problems include arrhythmias and benign heart muscle tumors (rhabdomyomas). See the entire definition of Tuberous sclerosis
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.
Wolff-Parkinson-White syndrome: A condition caused by an abnormality in the electrical system of the heart which normally tells the heart muscle when to contract. In Wolff-Parkinson-White (WPW) syndrome, there is an extra electrical connection inside the heart that acts as a short circuit, causing the heart to beat too rapidly and sometimes in an irregular manner. The syndrome can be lifethreatening although this is unusual. See the entire definition of Wolff-Parkinson-White syndrome
WPW syndrome: Abbreviation for the Wolff-Parkinson-White syndrome, a condition caused by an abnormality in the electrical system of the heart which normally tells the heart muscle when to contract. See the entire definition of WPW syndrome
Palpitations are unpleasant sensations of irregular and/or forceful beating of the heart. Palpitations can be relieved in many patients by stress reduction, stopping cigarettes, and reduction of caffeine and alcohol.
Heart rhythm disorders vary from minor palpitations, premature atrial contractions (PACs), premature ventricular contractions (PVCs), sinus tachycardia, and sinus brachycardia, to abnormal heart rhythms such as tachycardia, ventricular fibrillation, ventricular flutter, atrial fibrillation, atrial flutter, paroxysmal supraventricular tachycardia (PSVT), Wolf-White-Parkinson syndrome, brachycardia, or heart blocks. Treatment is dependant upon the type of heart rhythm disorder.
Sudden cardiac arrest is an unexpected, sudden death caused by sudden cardiac arrest (loss of heart function). Causes and risk factors of sudden cardiac arrest include (not inclusive): abnormal heart rhythms (arrhythmias), previous heart attack, coronary artery disease, smoking, high cholesterol, Wolff-Parkinson-White Syndrome, ventricular tachycardia or ventricular fibrillation after a heart attack, congenital heart defects, history of fainting, and heart failure, obesity, diabetes, and drug abuse. Treatment of sudden cardiac arrest is an emergency, and action must be taken immediately.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Paroxysmal supraventricular tachycardia (PSVT) is an abnormal conduction of electricity in particular areas of the heart. PSVT was referred to at one time as paroxysmal atrial tachycardia or PAT, however, the term PAT is reserved for as specific heart condition. Symptoms of PSVT include weakness, shortness of breath, chest pressure, lightheadedness, and palpitations. PSVT is treated with medications or procedures that return the heart to its normal electrical pattern.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The electrocardiogram (ECG or EKG) is a noninvasive test that is used to
reflect underlying heart conditions by measuring the electrical activity of the
heart. By positioning leads (electrical sensing devices) on the body in
standardized locations, information about many heart conditions can be learned
by looking for characteristic patterns on the EKG.
How is an ECG (EKG) performed?
EKG leads are attached to the body while the patient lies flat on a bed or
table. Leads are attached to each extremity (four total) and to six pre-defined
positions on the front of the chest. A small amount of gel is applied to the
skin, which allows the electrical impulses of the heart to be more easily
transmitted to the EKG leads. The leads are attached by small suction cups,
Velcro straps, or by small adhesive patches attached loosely to the skin. The
test takes about five minutes and is painless. In some insta...
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