Approximately, 1 of every 500 people is affected with hypertrophic cardiomyopathy, it is important for patients to understand the dynamics of the disease as it could potentially be life threatening. In most cases, the patients quality of life is not affected, but a few will experience symptoms that cause significant discomfort or undetected complications that could lead to sudden cardiac death. With that in mind, it would be beneficial to recognize what it is, specific causes, the steps of diagnoses, and the options for treatment.
What is it? Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere
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Apical hypertrophic cardiomyopathy is a disease that mainly affects the apex of the heart and does not cause any obstruction. [1] These abnormalities in the heart muscle can cause a wide variety of symptoms. As the heart becomes stiff it increases the pressure in the left ventricle which can push blood back into the lungs, causing shortness of breath in exercise. Chest pain can occur as there is not enough oxygen available to the cardiac muscle due to insufficient blood supply. Palpitations and lightheadedness, along with other conditions can occur as a result of HCM. In addition to these discomforting symptoms, the patient may develop an arrhythmias that often goes unnoticed. An arrhythmia takes place as the electrical conduction of the heart is disturbed by the abnormal scattering of myocytes. The two most common arrhythmias are atrial fibrillation causing palpitations, and ventricular tachycardia that can be life threatening causing sudden death. Both conditions can be controlled with medication. [4]
What Causes it? Hypertrophic cardiomyopathy is an inherited autosomal-dominant pattern affecting nearly 1 in 500 people, affecting both men and women equally. Which makes it the most “common genetic heart disease in the United States” [5] Many studies have been done on the causes of this disease. Research has shown the mutations of between 10 to 13 sarcomeric proteins are associated with HCM. Each mutated gene has a different pathological characteristic.
Young children who have hypertrophic cardiomyopathy tend to have no symptoms of their condition until
Cardiac hypertrophy is the enlargement, or thickening, of the heart muscle. After lots of strenuous exercise the heart muscle will increase. If a person does exercise, a thirty minute jog every day, for six months there will be an obvious increase in many other factors but the heart muscles will have grown in size. These changes are reversible when you discontinue aerobic training.
Right ventricular hypertrophy is where the muscle of the right ventricle is thicker than usual and causes the heart to work harder than normal to move blood through the narrowed pulmonary valve.
In cardiomyopathy the heart muscle becomes enlarged, thick or rigid, and in rare cases the muscle tissue can be replaced with scar tissue. As this disease worsens, the heart becomes weaker and unable to pump blood normally through the body and maintain a normal electrical rhythm. This can lead to heart failure or irregular heartbeats. The weakening of the heart also can lead to other problems such as heart valve problems. Cardiomyopathy can be acquired or inherited. It can affect people of all ages. There are various types of cardiomyopathy includes, hypertrophic, dilated, restrictive cardiomyopathy, Arrhythmogenic right ventricular dysplasia and unclassified cardiomyopathy. Some people with cardiomyopathy will never have any signs and symptoms. But in some people the signs and symptoms will develop in the early stages of the disease. As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. The signs and symptoms of cardiomyopathy includes, shortness of breath or trouble breathing, especially with physical exertion, fatigue, swelling in the ankles, feet, legs, abdomen, and veins in the neck. Other signs and symptoms may include dizziness, light-headedness, fainting during physical activity, irregular heartbeats, chest pain, especially after physical exertion or heavy meals, and heart murmurs. The treatment of cardiomyopathy include lifestyle changes, medicines, surgery, implanted devices to correct arrhythmias (National Heart, Lung, and Blood Institute,
Congestive heart failure (CHF) is a condition where the heart is unable to efficiently pump blood to supply the body with adequate blood flow and it can cause fluid to build up in the lungs. There are several disease processes and risk factors that predispose an individual to this condition. CHF can be chronic or acute and life threatening, and most of these patients are in the older adult population. Some symptoms of CHF include fatigue, shortness of breath, edema, and diminished exercise capacity. There are several medical management techniques for this condition including lifestyle modifications, medications and surgical intervention. Below, I will summarize two articles on two different medical treatments for CHF.
Heart failure HF is a condition involving the heart muscle that is unable to pump enough blood through the body to meet its oxygen needs. HF is associated with conditions such coronary artery disease, myocardial infarction, anemia, infection, thyrotoxicosis, hypothyroidism, dysrhythmias, bacterial endocarditis, pulmonary diseases, Paget’s disease, nutritional deficiencies and hypervolemia. HF main characteristic is ventricular dysfunction, usually left-sided heart failure develops first causing intolerance to exercise, reduction of quality of life and short life expectancy (Lewis, 2014).
Cardiomegaly also known as Heart muscle disease has many causes from valve infection of the heart, abnormal heart valve to alcohol and cocaine use. The most common causes are coronary heart disease and high blood pressure. Symptoms include shortness of breath, leg swelling and palpitations or skipped heartbeat. Symptoms are more common when the heart has expanded to the point when it is too large and is no longer able to pump blood throughout the body effectively. Some people may never experience any symptoms. That is why it is important to talk to your doctor involving any kind of health concerns. Prevention from this disease include minimal to no drug, tobacco use, having a healthy diet and eating well to reduce the chances of high blood pressure. This is something we all can do as a start. Treatment for cardiomegaly can be medications, medical procedures or surgery. Two forms of Medical treatment are having a small device called a implantable cardioverter-defibrillator or ICD for short; implanted into upper left chest right above the heart. This device monitors heart rhythm and delivers shock when needed when the
“Following The Trail of Broken Hearts” by David Epstein published on December 10, 2007 really opens your eyes to the fact that there are more medical problems then sometimes we think or know about. We hear about the big ones like cancer, diabetes, and high cholesterol but, what about the not well known diseases that are taking more lives than other diseases combined? This article opens up and recognizes one of those diseases, HCM or Hypertrophic cardiomyopathy.
Other forms of secondary restrictive cardiomyopathy include scleroderma, Friedreich’s Ataxia, hemochromatosis, glycogen storage disease and sarcoidosis. Chemotherapy and radiation therapy used to treat cancer can also cause restrictive cardiomyopathy. Sarcoidosis is caused by the infiltration of granulomas in the heart and other tissues of the body. Lungs and lymph nodes are the main organs targeted by this disease, but no organ is spared as it also affects the central nervous system and skin. In the USA, the occurrence in the white population is estimated to be 11 per 100,000. It affects people between the ages of 20 to 30 years and occurs more in women than in men (Dubrey, Bell, Mittal, 2007). Hemochromatosis is caused by the buildup of iron in the heart tissue which can then lead to heart arrhythmias. Scleroderma is a disorder of the connective tissue that leads to fibrosis of the skin, heart and lungs. Glycogen storage disease, also named Pompe’s affects infants. It causes increased storage of glycogen and fat tissue in the body. This causes the heart then to become very heavy and thick. Infants tend to struggle to breath, have trouble feeding and fail to meet developmental steps on time like rolling over and sitting up.
Cardiomyopathy is a type of progressive heart disease in which the heart is abnormally enlarged, thickened, and/or stiffened. As a result, the heart muscle's ability to pump blood is weakened, often causing heart failure and the backup of blood into the lungs in rest of the body. The disease can also cause abnormal heart rhythms. Some say having a big heart is a good thing but only in certain situations.There a 3 types of Cardiomyopathy and they are: Dilated Cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood efficiently. This disease affects the lungs, liver, and other body systems. Another is Hypertrophic Cardiomyopathy (HCM) is a primary disease of the myocardium, in which a portion of the myocardium
According to the US Census Bureau, population estimates in 2004, in the United States it is estimated that approximately .02% of the population is effected by hypertrophic cardiomyopathy. Which is two in
To conclude, hypertrophic cardiomyopathy, the cardiac sarcomere disorder, has been brought to the forefront of our attentions due to its rare yet fatal effects in young athletes; however, it is frequently asymptomatic and relatively common. In most cases, HCM will have no bearing on the person’s quality of life or lifespan. However, a minority, particularly young athletes, may be of an exception, with the myocardial disarray and thickened ventricular wall leading to complications. Dr Tom Riddington of the Guardian quotes: “since the 19th century more than 80 footballers are known to have died suddenly while playing, all young men, all otherwise apparently fit and healthy.” This highlights its significance with relation to sudden
Restrictive cardiomyopathy is the rarest type of cardiomyopathy affecting less than 5% of people. It causes the hearts myocardium to become rigid leading to diastolic dysfunction and often times, heart failure. One type of restrictive cardiomyopathy is known as idiopathic or primary cardiomyopathy. It is usually caused by a genetic mutation and is diagnosed only through exclusion. Infiltrative cardiomyopathy is other form of restrictive cardiomyopathy. Like its name, it is caused by the infiltration of proteins into the heart muscle. The left ventricle walls in restrictive cardiomyopathy are most often normal, however with infiltrative disease like amyloidosis and sarcoidosis it becomes thicker. Other types of secondary restrictive cardiomyopathy
Thanks for bringing up the idea of genetic counseling, because dominant and recessive genes are revealed and making the diagnosis will be much easier. As we know, hypertrophic obstructive cardiomyopathy is a common inherited cardiac disorder. The thickening of the septal wall decreases the outflow to the left ventricle wall. Increased heart rate and decrease intravascular volume leads to the obstruction of the left ventricular outflow. If the condition is not resolved ventricular dysrhythmias and sudden death may occur and this is commonly seem in more than 33% of young athletes (Huether & McCance, 2012). Individuals with such family history needs consistent health check up with the cardiologist. Good job.
It is one of the most common cardiac disorder and mostly causes sudden death in children and adolescents .the pathology of it consist of left ventricular hypertrophy , a thickened ventricular septum, atrial enlargement and small left ventricular cavity . The variability is seen between the phenotype and the cardiomyopathies due to different function performed by sarcomeric proteins. One such example is the mutation in the gene that encodes B- myosin heavy chain was the first mutation identified as a cause of familial hypertrophy cardiomyopathy .the clinical change varies from person to person for ex- an arginine to glutamine substitution at position 403 and an arginine to tryptophan t position 719 causes sudden heart