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
Systolic heart failure is characterized by enlarged ventricles that are unable to fully contract to pump enough blood into circulation to adequately perfuse tissues. The enlargement in ventricles is due to an increased end-systolic volume. If the heart is not able to sufficiently pump the expected volume of blood with each contraction, which in a normal healthy heart is 50-60%, there will be a residual volume left in the heart after every pump (Heart Healthy Women, 2012). With the next period of filling, the heart will receive the same amount of blood volume from the atria combined with that residual volume from the previous contraction. This causes the ventricles to have to dilate to accommodate this increase in volume. The dilation causes the walls of the ventricles to stretch and become thin and weak. Also the myocardium, the muscle layer of the heart, will stretch and not be able to adequately make a full and forceful enough contraction to push blood from the ventricles (Lehne, 2010).
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,
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).
“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.
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.
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
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
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.
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
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
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
These separate forms of the condition come with distinct traits that vary from one to the next. Dilated cardiomyopathy, “The most common form, this occurs when the muscle fibers of one or both pumping chambers are weak and unable to contract normally” (“Understand Pediatric” 1). Which means that the heart beats abnormally due to lack of blood flow. Often with DCM the heart is weak and fails because it cannot sufficiently pump blood throughout the body (“Understanding Pediatric” 1). The article on “Understanding Pediatric Cardiomyopathy” states that hypertrophic cardiomyopathy is the second most common form. HCM has a few characteristics that can be mistaken for dilated cardiomyopathy. Thick and stiff muscles may stop the heart from contracting properly, which may narrow the passageways for blood to move out of the heart (“Understanding Pediatric” 1). So, the muscles within the heart thicken to try and help blood flow. In an advanced form of hypertrophic cardiomyopathy, there is a chance that the muscles may thin to try to help the poor pumping action (“Understanding Pediatric” 1). When HCM tries to help the body it, in itself, can cause failure. A
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
As this disease progresses and the workload of the heart is consistently increased, ventricular hypertrophy occurs. At first, the hypertrophied heart muscles will increase contractility, thus increasing cardiac output; however, as hypertrophy of the ventricular myocardial cells continues, it begins to have poor contractility, requires more oxygen to perform, and has poor circulation from the coronary arteries. This can result in heart tissue ischemia and lead into cardiac dysrhythmias (Lewis et al. 2014, 768).