The Role Of Hypertrophic Cardiomyopathy : The Disease Of The Sarcomere Essay

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]

Cardiomyopathy is a disease of the heart muscle. It is where the ventricular structure is impaired. The heart muscle

One of the main causes of mortality and morbidity is congestive heart failure (CHF). The major causes of CHF are coronary artery disease and hypertension. Other risk factors are occurrence of left ventricular hypertrophy (LVH), valvular heart disease, diabetes, smoking, obesity and dyslipidemia [46, 47]. Diabetes mellitus as an anticipated factor of CHF was explained in some studies [44, 47]. Diabetes is considered as a risk factor for CHF but yet, its relationship with CHF has not been completely understood [47, 48]. Alterations of left ventricular function and structure that are associated with diabetes mellitus or diminished glucose regulation have been described in recent studies [42, 49]. It has been reported that insulin resistance

Heart failure due to a defect in expulsion of blood caused by an abnormality in systolic function, or ventricular contractile dysfunction. (Hart, RHIA, CCS, CCS-P, Stegman, MBA, CCS, and Ford, RHIT, CCS)

There are many causes of heart failure. Among them is a reduction in the contractile ability of the heart due to mechanical problems or any problem that limits the filling capacity of the heart chambers with blood due to any form of cardiomyopathy. Whatever the cause, the patient’s tissues are compromised because they cannot receive an adequate amount of oxygen necessary to perform optimally (Bui, Horwich, & Fonarow, 2010).

HCM is a heart condition, that causes the walls in the left ventricle to enlarge, not allowing full blood flow into the heart. Around the time of the article being published there was an estimated 600,000 Americans who were living with HCM and around 6,000 of them that will die each year from the disease. It is very common in athletes and is the most common cause of sudden death for young athletes and young people in general. At least every two weeks, an athlete with HCM will die during or after exercise but yet, it's still a little-known disease.

Cardiac hypertrophy is the enlargement of the lower, ventricular walls of the heart. Most commonly occurring in the left ventricular side, cardiac hypertrophy can occur on one side or both. Characterized by abnormal heart muscle growth it can be a healthy response to pregnancy or exercise. However, an increase in heart size could also be a sign of hypertension, diabetes, muscular dystrophy, obesity, or cardiomyopathy. Hypertrophy of the heart can be adaptive or maladaptive, therefore the growth may not lead to an increase in cardiac output.

2002), then, to the late stage which is presented with systolic dysfunction or heart failure (Boudina et al. 2007;Boudina et al. 2010). The first stage of DCM is clinically asymptomatic, but the second stage of DCM is characterized by diastolic dysfunction (including: ventricular hypertrophy and stiffness, high end-diastolic pressure and volume) (Connelly et al. 2008;van et al. 2008) and cardiac inter-cellular matrix remodeling (including: an accumulation of insoluble type VI collagen and a deposition of fibrous tissue) (Khaidar et al. 1994;Spiro et al. 1993). Several mechanisms contribute to ventricular stiffness in diabetic heart mainly due to sustained hyperglycemia that promotes formation of advanced glycation end-products (AGEs) (Bodiga et al. 2014), all of which are cross-linking with extracellular matrix proteins including collagen and elastin, leading to a change in the histological properties and eventually impairing cardiac relaxation (Candido et al. 2003;Liu et al. 2003;Vasan et al. 2003). The prevalence of diastolic dysfunction is several times higher in patients with T2DM than in age and sex-matched healthy populations (From et al. 2010;von and St John et al. 2010). From a clinical standpoint, DCM is defined as the presence of left ventricular (LV) dysfunction in diabetic subjects in the absence of

The patient’s chart did not state which type of cardiomyopathy he had a history of, but there are four types of cardiomyopathies. Dilated cardiomyopathy is when both heart ventricles are dilated and the heart’s pumping function is impaired because the ventricular walls stretch out to very thin widths (Dechant, 2016). Hypertrophic cardiomyopathy is where the walls of the ventricles thicken and grow inwards, and could impair the outflow of blood when the heart contracts (Dechant, 2016). Restrictive cardiomyopathy is when the ventricles stiffen in elasticity, restricting the inflow of blood into the ventricles at rest (Dechant, 2016). Finally, arrhythmogenic right ventricular cardiomyopathy could involve either ventricle and is when the myocardial tissue is replaced by fatty tissue, impairing overall ventricular function (Dechant, 2016).

Hypoplastic left heart syndrome is characterized by hypoplasia of the left ventricle, aortic stenosis, hypoplasia of the ascending aorta, and coarctation (narrowing) of the aorta. In normal conditions the left side of the heart receives oxygenated blood from the lungs and pumps it into the systemic circulation. In patients with HLHS, the left ventricle and the aorta are underdeveloped. The

Familial Cardiomyopathies (FC) are a collection of cardiac diseases that vary vastly genetically, and pathologically (1, 2). Hypertrophic cardiomyopathy (HCM) is the most common form of FC (2). HCM is diagnosed often with left ventricular hypertrophy without a noticeable increase in external load and smaller ventricular cavity, but with a preserved ejection fraction (3). That is, the percent of blood leaving the left ventricle (5) does not change. Other pathologies include interstitial fibrosis, thickening of the media in intramural arteries, and myocytes disarray greater than 5%; which is a hallmark of HCM (4). HCM shows variability in its penetrance, from a patient with no symptoms, to having sudden cardiac death (SCD)

Hypertrophic cardiomyopathy is characterized by interventricular septal hypertrophy (in absence of other cardiovascular conditions), causing decrease of left ventricle cavity and potentially leading to outflow obstruction. (1) (6) As a consequence of mutations in several genes encoding for thick and thin filaments which build the cardiac muscle, morphological changes occur leading to tangled, thickened myocardial fibers. It is an important cause of morbidity and mortality. Symptomatology varies a lot, from asymptomatic patients to those with severe cardiac function impairment. Some of the most common symptoms of HCM, which are not specific to this disorder may be: shortness of breath at rest or with exertion, fatigue, chest pain, arrhythmias, dizziness, but not only.

HCM encompasses several aetiological factors that contribute to the development of the pathology. Most studies show that more than 55% of HCM cases worldwide are a genetic-specific cause. However, regardless of the genetic mutation being the most prevalent HCM aetiology, there are individuals with clinical diagnosis of HCM where there’s an apparent absence of mutations or without genetic involvements (acquired). (Cirino and Ho, 2014) Although autosomal recessive, X-linked, and mitochondrial trait of inheritance can also occur, the most documented mode of transmission of Familial HCM is via an autosomal dominant Mendelian pattern of inheritance. This means of an affected parent, one copy of the mutated gene in the autosomes in each cell is sufficient

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.