Abdominal aortic aneurysm facts An aneurysm is an abnormal area of localized widening of a blood vessel. The aorta bulges at the site of an aneurysm like a weak spot on a worn tire. Aortic aneurysms are typically spindle-shaped and involve the aorta below the arteries to the kidneys. The most common cause of an aneurysm is arteriosclerosis. Smoking is a major risk factor. Abdominal aortic an  Read More

A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.  Read More

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the lower lip. The disorder is present at birth (congenital) and is usually first noticed when the infant cries or smiles. Half of the lower lip cannot be drawn down and outward because of the incomplete dev  Read More

Hereditary spherocytic hemolytic anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells. Red blood cells (erythrocytes) normally circulate for a few months and when they die off is replaced by new erythrocytes. However, in hereditary spherocytic hemolytic anemia, the cells die prematurely. They also have low amounts of fats (lipid) in the cell  Read More

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems.  Read More

What is alpha thalassemia? Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. What are the types of alpha thalassemia? Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome. The milder form is  Read More

What is sickle cell anemia? Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is r  Read More

What is angina? The heart is the pump responsible for circulating blood throughout the body. Myocardium (myo=muscle + cardium=muscle) is the heart muscle that contracts to pump that blood and like any other muscle, it requires oxygen rich blood for energy. Angina pectoris describes the pain, discomfort, or other symptoms that occur when blood flow to heart muscle cells is not enough to meet its energy needs. The classic descrip  Read More

What is antiphospholipid syndrome? What are antiphospholipid syndrome symptoms and signs? The antiphospholipid syndrome is a disorder of the immune system that is characterized by excessive clotting of blood and/or certain complications of pregnancy (premature miscarriages, unexplained fetal death, or premature birth) and the presence of antiphospholipid antibodies (such as anti-cardiolipin or lupus anticoagulant antibodies) in the blo  Read More

Introduction to aortic dissection The aorta is the large blood vessel that leads from the heart and carries blood to the rest of the body. It originates at the aortic valve at the outlet of the left ventricle of the heart and ascends within the chest to an arch where blood vessels branch off to supply blood flow to the arms and head. The aorta then begins to descend through the chest and into the abdomen where it splits into two iliac  Read More

What is aortic stenosis? Aortic stenosis is abnormal narrowing of the aortic valve. A number of conditions cause disease resulting in narrowing of the aortic valve. When the degree of narrowing becomes significant enough to impede the flow of blood from the left ventricle to the arteries, heart problems develop. The basic mechanism is as follows: The heart is a muscular pump with four chambers and four heart valves.  Read More

A heart arrhythmia (uh-RITH-me-uh) is an irregular heartbeat. Heart rhythm problems (heart arrhythmias) occur when the electrical signals that coordinate the heart's beats don't work properly. The faulty signalling causes the heart to beat too fast (tachycardia), too slow (bradyc  Read More

OverviewArteriosclerosis occurs when the blood vessels that carry oxygen and nutrients from your heart to the rest of your body (arteries) become thick and stiff — sometimes restricting blood flow to your organs and tissues. Healthy arteries are flexible and elastic, but over time, the walls in your arteries can harden, a condition commonly called hardening of the arteries. Atherosclerosis is a specific type of arterioscleros  Read More

Atrial fibrillation (A-fib) is an irregular and often very rapid heart rhythm (arrhythmia) that can lead to blood clots in the heart. A-fib increases the risk of stroke, heart failure and other heart-related complications.  Read More

Atrial fibrillation (AFib) facts Atrial fibrillation (also referred to as AFib) is the most common type of abnormal heart rhythm. AFib is caused by abnormal electrical discharges (signals) that generate chaotically throughout the upper chambers of the heart (atria). AFib reduces the ability of the atria to pump blood into the ventricles, and usually causes the heart to beat too rapidly. One-half million new case  Read More

Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Romano  Read More

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in epis  Read More

General DiscussionChagas Disease is a tropical infectious disease caused by the parasite Trypanosoma cruzi. It is transmitted by the bite of one of several species of blood-sucking insects or by blood transfusion. Acute Chagas Disease usually affects children and typically presents as the mild phase of the disease. However, this is generally followed by a long period of low level, parasitic infection (parasitemia). Many years later, a  Read More

General DiscussionPentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of  Read More

The symptoms of cardiomyopathy can vary depending on the type and severity of the condition. However, some common symptoms of cardiomyopathy include: Shortness of breath: You may feel short of breath or have difficulty breathing, especially during physical activity or when lying down. Fatigue: You may feel tired or exhausted, even with little physical activity. Swelling: You may experience swelling in your legs, ankles, feet,  Read More

General DiscussionWildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment that is present at birth (congenital). In individuals with KFS, there is abnormal union or fusi  Read More

What are congenital heart defects? Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve: The interior walls of the heart The valves inside the heart The arteries and veins that carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the heart. There ar  Read More

What is congestive heart failure (CHF)? Heart failure describes the inability or failure of the heart to adequately meet the needs of organs and tissues for oxygen and nutrients. This decrease in cardiac output, the amount of blood that the heart pumps, is not adequate to circulate the blood returning to the heart from the body and lungs, causing fluid (mainly water) to leak from capillary blood vessels. This leads to the symptoms that  Read More

What is heart disease? The heart is like any other muscle in body and it requires adequate blood supply to provide oxygen to allow the muscle to contract and pump. Not only does the heart pump blood to the rest of the body, it also pumps blood to itself via the coronary arteries. These arteries originate from the aorta (the major blood vessel that carries oxygenated blood away from the heart) and then branch out along the surface of th  Read More

General DiscussionThe word "neurasthenia" is a term that has fallen into disuse among psychiatrists in the United States and Australia. It remains in use in the United Kingdom. Where it is used, it covers a wide spectrum of symptoms including the sensation of pain or of numbness in various parts of the body, chronic fatigue, weakness, anxiety, and fainting. Additional findings associated with this term may include rapid intense heartb  Read More

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarr  Read More

General DiscussionSummary Paroxysmal cold hemoglobinuria (PCH) is a rare type of anemia characterized by the premature destruction of healthy red blood cells by autoantibodies. The disorder is classified as an autoimmune hemolytic anemia (AIHA), an uncommon group of disorders in which the immune system mistakenly attacks healthy red blood cells. Autoimmune diseases occur when the body's natural defenses against foreign organisms d  Read More

What is an echocardiogram? The heart is a two-stage electrical pump that circulates blood throughout the body. The anatomy includes four chambers and four valves. For the heart to function normally these structures need to be intact and the heart muscle needs to beat in a coordinated fashion, so that blood flows in and out of each chamber in the proper direction. An echocardiogram (echo=sound + card=heart + gram=drawing) is an u  Read More

Trisomy 18 syndrome is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. In some cases, the chromosomal abnormality may be present in only a percentage of cells, whereas other cells contain the normal chromosomal pair (mosaicism). Depending on the specific location of the duplicated (trisomic) portion of chromosome 18--as well as the  Read More

General DiscussionEisenmenger syndrome is a rare progressive heart condition that develops in some individuals with structural malformations of the heart that are present from birth (congenital heart defects). The disorder is characterized by increased blood pressure in the main blood vessel (pulmonary artery) connecting the heart to the lungs (pulmonary hypertension) and improper blood flow within the heart. The normal heart  Read More

General DiscussionEisenmenger syndrome is a rare progressive heart condition that develops in some individuals with structural malformations of the heart that are present from birth (congenital heart defects). The disorder is characterized by increased blood pressure in the main blood vessel (pulmonary artery) connecting the heart to the lungs (pulmonary hypertension) and improper blood flow within the heart. The normal heart  Read More

OverviewEisenmenger (I-sun-meng-uhr) syndrome is a complication of a heart defect that you're born with (congenital). A heart defect that causes a hole (shunt) to develop between two chambers of your heart is the most common cause of Eisenmenger syndrome. This hole causes blood to circulate abnormally in your heart and lungs. Increased blood flow returns to your lungs instead of going to the rest of your body. The blood vessels  Read More

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open,  Read More

Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weaknes  Read More

Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have improperly developed atrial and ventricular septa and adjoining valves. The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition called the atrial septum. The two lower chambers, known as ventricles, are separ  Read More

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, kn  Read More

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, kn  Read More

Endocarditis is a serious inflammation of one of the four heart valves.  Read More

General DiscussionCongenital rubella is a syndrome that occurs when a fetus has been infected with the rubella virus while in the uterus. It is primarily characterized by abnormalities of the heart and nervous system, the eyes and the ears. The fetus is most vulnerable to the virus during the first three months of pregnancy, although pregnant women are advised to avoid exposure to rubella virus at all times. Women who contract rubella  Read More

Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual disability; failure to thrive; heart defects that are present at birth (congenital); short stature and skin abnormalities. CFC syndrome is a domina  Read More

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease. Cyanosis is the abnormal bluish discoloration of the skin that occurs because of low levels of circulating oxygen in the blood. Tetralogy of Fallot consists of the combination of four different heart defects: a ventricular septal defect (VSD); obstructed outflow of blood from the right ventricle to the lungs (pulmonary stenosis); a displaced aorta, which causes b  Read More

Pediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the specific symptoms vary from case to case. In some cases, no symptoms may be present (asymptomatic); in many cases, cardiomyopathy is a progressive condition that may result in an impaired ability of the heart to pump blood; fati  Read More

Pediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the specific symptoms vary from case to case. In some cases, no symptoms may be present (asymptomatic); in many cases, cardiomyopathy is a progressive condition that may result in an impaired ability of the heart to pump blood; fati  Read More

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems.  Read More

Factor XIII deficiency is a rare, genetic bleeding disorder characterized by a deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor XIII deficiency form blood clots like normal, but these clots are unstable and often break down, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the  Read More

Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the narrowing (constriction) o  Read More

General DiscussionWeil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver (hepatomegaly), persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice), and/or alterations in consciousness. In most cases, Weil syndrome occu  Read More

The word "neurasthenia" is a term that has fallen into disuse among psychiatrists in the United States and Australia. It remains in use in the United Kingdom. Where it is used, it covers a wide spectrum of symptoms including the sensation of pain or of numbness in various parts of the body, chronic fatigue, weakness, anxiety, and fainting. Additional findings associated with this term may include rapid intense heartbeat that may be irregular (  Read More

Giant cell myocarditis is a rare cardiovascular disorder that occurs for unknown reasons (idiopathic). It is characterized by inflammation of the heart muscle (myocardium), a condition referred to as myocarditis. Inflammation is caused by widespread infiltration of giant cells associated with other inflammatory cells and heart muscle cell destruction. Giant cells are abnormal masses produced by the fusion of inflammatory cells called macrophag  Read More

SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:(S)= short stature(H)= hyperextensibility of joints and/or hernia (inguinal)(O)= ocular depression(R) =Rieger anomaly(T) =teething delayOther characteristics common in SHORT syn  Read More

Factor XII deficiency is a rare genetic blood disorder that causes prolonged clotting (coagulation) of blood in a test tube without the presence of prolonged clinical bleeding tendencies. It is caused by a deficiency of the factor XII (Hageman factor), a plasma protein (glycoprotein). Specifically, factor XII is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clump  Read More

A heart attack occurs when the flow of blood to the heart is severely reduced or blocked. The blockage is usually due to a buildup of fat, cholesterol and other substances in the heart (coronary) arteries. The fatty, cholesterol-containing deposits are called plaques. The process  Read More

Introduction to Arrhythmia An irregular heartbeat is an arrhythmia (also called dysrhythmia). Heart rates can also be irregular. A normal heart rate is 50 to 100 beats per minute. Arrhythmias and abnormal heart rates don't necessarily occur together. Arrhythmias can occur with a normal heart rate, or with heart rates that are slow (called bradyarrhythmias -- less than 50 beats per minute). Arrhythmias can also occur with rapid heart ra  Read More

Cardiac catheterization (also called cardiac cath or coronary angiogram) is an invasive imaging procedure that tests for heart disease by allowing your doctor to see how well your heart is functioning. During the test, a long, narrow tube, called a catheter, is inserted into a blood vessel in your arm or leg and guided to your heart with the aid of a special X-ray machine. Contrast dye is injected through the catheter so that X-ray movies of y  Read More

What Is Restrictive Cardiomyopathy? Restrictive cardiomyopathy, the rarest form of cardiomyopathy, is a condition in which the walls of the lower chambers of the heart (the ventricles) are abnormally rigid and lack the flexibility to expand as the ventricles fill with blood. The pumping or systolic function of the ventricle may be normal but the diastolic function (the ability of the heart to fill with blood) is abnormal. There  Read More

According to the American Heart Association, about 5 million Americans are diagnosed with valvular heart disease each year. What Is Valvular Heart Disease? Heart valve disease occurs when your heart's valves do not work the way they should. How Do Heart Valves Work? Your heart valves lie at the exit of each of your four heart chambers and maintain one-way blood flow through your heart. The four heart valves make  Read More

Introduction to treating arrhythmias with ablation Ablation is used to treat abnormal heart rhythms, or arrhythmias. The type of arrhythmia and the presence of other heart disease will determine whether ablation can be performed surgically or non-surgically. Non-surgical ablation, used for many types of arrhythmias, is performed in a special lab called the electrophysiology (EP) laboratory. During this non-surgical procedure a  Read More

What Is a Biventricular Pacemaker? Leads are implanted through a vein into the right ventricle and into the coronary sinus vein to pace or regulate the left ventricle. Usually (but not always), a lead is also implanted into the right atrium. This helps the heart beat in a more balanced way. Traditional pacemakers are used to treat slow heart rhythms. Pacemakers regulate the right atrium and right ventricle to maintain a good he  Read More

A sedentary (inactive) lifestyle is one of the top risk factors for heart disease. Fortunately, it's a risk factor that you can do something about. Regular exercise, especially aerobic exercise, has many benefits. It can: Strengthen your heart and cardiovascular system. Improve your circulation and help your body use oxygen better. Improve your heart failure symptoms. Increase energy levels so you can do more activiti  Read More

Introduction to heart transplant The idea of replacing a bad organ with a good one has been documented in ancient mythology. The first real organ transplants were probably skin grafts that may have been done in India as early as the second century B.C. The first heart transplant in any animal is credited to Vladimer Demikhov. Working in Moscow in 1946, Demikhov switched the hearts between two dogs. The dogs survived the surgery. The fi  Read More

What is hemolytic uremic syndrome (HUS)? Hemolytic uremic syndrome (HUS) is a disease of two body systems, the blood stream and the kidney. Hemolysis describes the destruction of red blood cells. In hemolytic uremic syndrome, blood within capillaries, the smallest blood vessels in the body, begins to clot abnormally. When red blood cells pass through the clogged capillaries, they are sheared apart and broken. (hemo=blood +lysis=destruc  Read More

General DiscussionHolt-Oram syndrome is a disorder that is characterized by abnormalities in the bones of the upper limb and a family or personal history of a congenital heart malformation or an abnormality in the electrical impulses that coordinate the muscle contraction of the heart (cardiac conduction defect). In some affected individuals, an abnormal wrist (carpal) bone is the only evidence of the disease. Seventy-five percent of  Read More

Hypercalcemia Introduction Calcium is a mineral that is important in the regulation and processes of many body functions including bone formation, hormone release, muscle contraction, and nerve and brain function. Hypercalcemia is the term that refers to elevated levels of calcium in the bloodstream. Regulation of Calcium Calcium levels are tightly regulated in the body. Calcium regulation is primarily controlled by par  Read More

What Is Hypertrophic Cardiomyopathy? Hypertrophic cardiomyopathy (HCM) is associated with thickening of the heart muscle, most commonly at the septum between the ventricles, below the aortic valve. This leads to stiffening of the walls of the heart and abnormal aortic and mitral heart valve function, both of which may impede normal blood flow out of the heart.  Read More

General DiscussionHypoplastic left heart syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves con  Read More

General DiscussionPediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the specific symptoms vary from case to case. In some cases, no symptoms may be present (asymptomatic); in many cases, cardiomyopathy is a progressive condition that may result in an impaired ability of th  Read More

General DiscussionGiant cell myocarditis is a rare cardiovascular disorder that occurs for unknown reasons (idiopathic). It is characterized by inflammation of the heart muscle (myocardium), a condition referred to as myocarditis. Inflammation is caused by widespread infiltration of giant cells associated with other inflammatory cells and heart muscle cell destruction. Giant cells are abnormal masses produced by the fusion of inflamma  Read More

General DiscussionIvemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnormal arrangement of the internal organs of the chest and abdomen. The symptoms of Ivemark syndrome can vary greatly depending upon the specific abnormalities present. Many infants have symptoms associat  Read More

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarr  Read More

OverviewKlippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving abnormal development of blood vessels, soft tissues (such as skin and muscles), bones, and the lymphatic system. The main features include a red birthmark (port-wine stain), overgrowth of tissues and bones, and vein malformations with or without lymphatic abnormalities. Although there is no  Read More

General DiscussionEndomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the  Read More

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and poten  Read More

OverviewMarfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your a  Read More

What is metabolic syndrome? Metabolic syndrome is a cluster of metabolic risk factors that come together in a single individual. These metabolic factors include insulin resistance, hypertension (high blood pressure), cholesterol abnormalities, and an increased risk for blood clotting. Affected individuals are most often overweight or obese. An association between certain metabolic disorders and cardiovascular disease has been known sin  Read More

Dextrocardia with Situs Inversus is a rare heart condition characterized by abnormal positioning of the heart. In this condition, the tip of the heart (apex) is positioned on the right side of the chest. Additionally, the position of the heart chambers as well as the visceral organs such as the liver and spleen is reversed (situs inversus). However, most affected individuals can live a normal life without associated symptoms or disability.  Read More

What is mitral valve prolapse? Mitral valve prolapse (also known as "click murmur syndrome" and "Barlow's syndrome") is the most common heart valve abnormality. The condition is slightly more prevalent in women than in men. The mitral valve is one of the four heart valves. A normal mitral valve consists of two thin leaflets, located between the left atrium and the left ventricle of the heart. Mitral valve leaflets, shaped like parachut  Read More

General DiscussionPseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately results in the accumulation of certain complex carbohydrates (mucopolysaccharides) and fatty substances (mucolipids) in various tissues of the body. The symptoms of this disorder are similar, but less sever  Read More

What is myocarditis? Myocarditis is inflammation of heart muscle.  Read More

General DiscussionNeonatal lupus is a rare autoimmune disorder that is present at birth (congenital). Affected infants often develop a characteristic red rash or skin eruption. In addition, infants with neonatal lupus may develop liver disease, a heart condition known as congenital heart block, and/or low numbers of circulating blood platelets that assist in blood clotting functions (thrombocytopenia). The symptoms associated with neo  Read More

General DiscussionPediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the specific symptoms vary from case to case. In some cases, no symptoms may be present (asymptomatic); in many cases, cardiomyopathy is a progressive condition that may result in an impaired ability of th  Read More

Hypertrophic cardiomyopathy (HCM) is a disease that causes the heart to grow abnormally large, which can lead to trouble pumping blood throughout the body. It's also known as an abnormal thickening of the heart muscle. The symptoms of nonobstructive hypertrophic cardiomyopathy (HCM) are not always easy to spot, but there are some common signs to look for. If you're concerned about your heart health, here's what you need to know. he most common  Read More

OverviewNoonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays. Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene fro  Read More

Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes thickened (hypertrophied). The thickened heart muscle can make it harder for the heart to pump blood.  Read More

General DiscussionRetroperitoneal fibrosis is a rare inflammatory disorder in which abnormal formation of fiber-like tissue (fibrosis) occurs behind the membrane that lines the cavity of the abdomen (peritoneum). This abnormal tissue growth often spreads to affect the tubes that carry urine from the kidney to the bladder (ureters). Often these tubes become blocked by the excess tissue. Specific symptoms may vary depending upon the exa  Read More

What are palpitations? Palpations are sensations by a person that they are having hard, rapid, or irregular heartbeats or a combination of these sensations. The following is a brief description of the heart's function that should help readers to better understand palpitations. The heart is a two-stage electrical pump whose function is to circulate blood to the organs and tissues of the body. The heart's electrical system allows  Read More

Tachycardia is when your heart beats faster than normal, even when you’re not doing anything. Paroxysmal supraventricular tachycardia (PSVT) is when your fast heartbeat starts in the upper, or supraventricular, chambers of the heart. It’s also known as supraventricular tachycardia. PSVT is most common in younger people, especially women.   Read More

What is pericarditis? The heart muscle has a tight covering that surrounds it, a lining sac called the pericardium (peri=around +cardium=heart). This sac actually has two layers. The visceral pericardium is only one cell layer thick and fits tightly onto the heart muscle. The parietal pericardium is much tougher and thicker and has fibers that tether the heart to the rib cage and diaphragm. There is a potential space between the layers  Read More

General DiscussionWolff-Parkinson-White (WPW) syndrome is a rare congenital heart disorder involving irregularities in the electrical system of the heart. In individuals with WPW syndrome, an abnormal alternate electrical pathway (accessory pathway), exists between the atrium and the ventricle, resulting in abnormal heartbeat rhythms (arrhythmias) and faster than normal heartbeats (tachycardia). The normal heart has four cham  Read More

What are premature ventricular contractions (PVCs)?Premature ventricular contractions (PVCs) are premature heartbeats originating from the ventricles of the heart. Premature ventricular contractions are premature because they occur before the regular heartbeat.Normal function of the heartThe heart has four chambers. The upper two chambers are the atria, and the lower two chambers are the ventricles. The atria deliver bl  Read More

General DiscussionSecondary pulmonary hypertension is a disorder of the blood vessels in the lungs. It usually is the result of other lung diseases or related diseases in other organs. Affected individuals have high blood pressure (hypertension) of the main artery of the lungs (pulmonary artery). The disorder is characterized by breathing difficulties, especially after exertion.  Read More

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and poten  Read More

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and poten  Read More

Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the norm  Read More

General DiscussionPhocomelia syndrome (PS) is a rare birth defect that causes severe birth defects, especially of the upper limbs. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called t  Read More

General DiscussionSneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral ischemia) and bluish net-like patterns of discoloration on the skin surrounding normal- appearing skin (livedo reticularis). Major symptoms may include headache, dizziness,  Read More

Introduction If you're like most Americans, you plan for your future. When you take a job, you examine its benefit plan. When you buy a home, you consider its location and condition so that your investment is safe. Today, more and more Americans are protecting their most important asset--their health. Are you? Stroke ranks as the third leading killer in the United States. A stroke can be devastating to individuals and their fam  Read More

General DiscussionEndocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum.  Read More

Introduction The superior vena cava is a large vein located in the upper chest, which collects blood from the head and arms and delivers it back to the right atrium of the heart. If this vein is compressed by outside structures, or if a thrombus or clot develops within it, return blood flow to the heart is impeded. When blood flow to the heart is restricted, the increased pressure in the veins of the face and arms causes edema (fluid b  Read More

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarr  Read More

Large arteries Open pop-up dialog box Close Large arteries Large arteries Takayasu's arteritis is a form of vasculitis — inflammation of the blood vessels — that damages the large arteries, especially the aorta. Chambers and valves of the heart Open pop-up dialog box Close Chambers and valves of the heart Chambers and valves of the heart A typical heart has two upper and two lower chambers. The upper chamber  Read More

General DiscussionRubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with this syndrome include growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "be  Read More

Vascular disease includes any condition that affects the circulatory system. As the heart beats, it pumps blood through a system of blood vessels called the circulatory system. The vessels are elastic tubes that carry blood to every part of the body. Arteries carry blood away from the heart while veins return it. Vascular disease ranges from diseases of your arteries, veins, and lymph vessels to blood disorders that affect circulation.  Read More

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varyi  Read More

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varyi  Read More

General DiscussionBuerger's disease, also known as thromboangiitis obliterans, is a rare disorder that, in most cases, affects young or middle-aged male cigarette smokers. It is characterized by narrowing or blockage (occlusion) of the veins and arteries of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). The legs are affected more often than the arms. In most cases, the first symptom is e  Read More

General DiscussionTownes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalities in the feet, heart and kidneys also occur frequently. Townes-Brocks syndrome is associated with a mutation in the SALL1 gene.  Read More

General DiscussionCor triatriatum is an extremely rare congenital (present at birth) heart defect. Normally, the human heart has four chambers of which two are the atria. These two are separated from each other by a partition (septum) called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. In cor triatriatum there is a small extra chamber above the left atrium of the heart. The pulmonary  Read More

General Discussion Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.  Read More

General DiscussionVACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:(V) = (costo-) vertebral abnormalities(A) = anal atresia(C) = cardiac (heart) defects(TE) = tracheal-esophageal abnormalities, including atr  Read More

General DiscussionChromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormal  Read More

What is a ventricular septal defect (VSD)? A ventricular septal defect (VSD) is a heart malformation present at birth. Any condition that is present at birth can also be termed a "congenital" condition. A VSD, therefore, is a type of congenital heart disease (CHD). The heart with a VSD has a hole in the wall (the septum) between its two lower chambers (the ventricles). How common is a VSD? The most frequent types of con  Read More

General DiscussionVentricular septal defects are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricl  Read More

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and poten  Read More

General DiscussionWilliams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth  Read More

General DiscussionWolff-Parkinson-White (WPW) syndrome is a rare congenital heart disorder involving irregularities in the electrical system of the heart. In individuals with WPW syndrome, an abnormal alternate electrical pathway (accessory pathway), exists between the atrium and the ventricle, resulting in abnormal heartbeat rhythms (arrhythmias) and faster than normal heartbeats (tachycardia). The normal heart has four cham  Read More

What is Wolff-Parkinson-White syndrome? Wolff-Parkinson-White syndrome is a specific type of abnormality of the electrical system of the heart. This syndrome causes a specific pattern on an electrocardiogram (Wolff-Parkinson-White pattern) and is linked to an episode of rapid heart rates, such as supraventricular tachycardia (SVT) or atrial fibrillation. Wolff-Parkinson-White syndrome is a treatable medical condition. Wolff-Parkinson-W  Read More

General DiscussionBarth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course varies considerably, even among affected members of the same family (kindred). Primary chara  Read More