Hypertrophic Cardiomyopathy

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.

Young children who have hypertrophic cardiomyopathy tend to have no symptoms of their condition until

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,

Systolic heart failure results from the inability of the cardiac muscle to contract effectively from inadequate cardiac output. As the cardiac output drops, compensatory mechanisms to try to restore its function through takes place by ventricular remodeling. During this remodeling phase, the heart begins to develop changes in its size and becomes hypertrophic that results in a decreased ability of the heart to contract, decreased available oxygen, and available ATP. Secondly, this hypertrophic states increases preload that results

Through more research, dilated cardiomyopathy has been found to have a genetic component (MacRae, 2010). Though there have been families who have volunteered to be screened, there are still some 40 chromosomal loci and potential disease genes discovered so far. The reason for the wide range of variants of potential loci is due to how prevalent the disease is in families. For example, the more individuals who have been diagnosed with the disease, researchers were then able to find similar loci among the affected; whereas, the families who had fewer affected individuals laid a wider range of

As cardiomyopathy progresses, the heart becomes weaker and is less able to pump blood normally. This results in heart failure. There are different types of cardiomyopathy- hypertrophic, dilated, and restrictive. Hypertrophic cardiomyopathy occurs when the heart muscle cells enlarge which causes the thickening of the left ventricular wall. Although the ventricle size stays normal, the thickening makes it harder for the heart to pump blood. In some cases, the septum also thickens and expands to the left ventricle which causes a blockage of blood flow out of the left ventricle. The cause of the disease is unknown but hypertrophic cardiomyopathy is usually caused by changes in the genes in heart muscle proteins. It can also develop due to

Risk for having CAD or established CAD, previous MI or heart failure with decreased ejection fraction and ventricular arrhythmias are the known risk factors for SCD[17, 136]. The estimated incidence rate of SCD in infants, children, adolescents, and young adults is about 1.3 to 8.5 per 100,000 patient/years [137] but it still costs to thousands life per year. Sudden infant death syndrome accounting for approximately 10% of the crib death is believed to be due to cardiac arrhythmia or long QT syndrome [138]. A study suggest that out of 158 deaths of American athletes, 30% were due to hypertrophic cardiomyopathy and 13% due to abnormal blood circulation, 10% due to increased cardiac mass due to cardiomyopathy [139]. Another study suggest 20% death due to CAD and 10% deaths due to right ventricular cardiomyopathy/ dysplasia in young population [140]. Patients suffering from SCD with normal heart or without any cardiac disease history, on autopsy show structural abnormalities. Sudden unexplained deaths are also a major concern in epidemiology of SCD and careful post-mortem and histological examination can play a vital role [17]. In a study with 270 autopsies 55 were found to have structural heart disease and a specific cause for death were found in 180 cases with 65% having CAD, 14% with congenital anomalies and 11% with myocarditis. Left

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)

Heart failure (HF) is a complex syndrome in which structural or functional cardiac disorders impair the ability of one or both ventricles to fill with or eject blood. HF is considered to be a chronic condition with periods of worsening symptoms that may require medical attention. It may present acutely within just 24 hours in the form of pulmonary edema or even cardiogenic shock. To diagnose HF, three criteria need to be present: including shortness of breath at rest or during exertion and/or fatigue, signs of fluid retention such as pulmonary congestion and/or ankle swelling, and objective evidence of a decrease in myocardial performance at rest which is demonstrated using echocardiography.(1)

Intro- Heart Failure is a multifactorial disease due to significant diminishing of heart pumping action. This is occurs in response to many underlying disease such as diabetes, hypertension, myocardial infarction and cardiac myopathies. These conditons lead to hemodynamic instability, neuroendocrine imbalances and structural remodeling of cardiac myocytes. Early less sever hf allows for compensatory mechanisms such as neuroendocrine stimulation- (beta adrenbergic r endothelin norepinephrine r), and hypertrophy which allow for sufficient left ventricular pumping action. However as hf develops these mechanisms become unable to compensate for the progressive underlying disease which results in further loss of contraction and relaxation efficiency and loss of regulation.

Dilated cardiomyopathy (DCM) is a disorder caused by abnormalities in functional regions of the heart muscle. [Maron et al., 2006] It is one of two major types of cardiomyopathies, the other being hypertrophic cardiomyopathy (HCM). In DCM the ventricles are dilated with dysfunctional systolic pressure, affecting 1 in 2500 individuals. [Codd et al., 1989, Pahl, 2010] Familial DCM is diagnosed when two or more family members die or there is sudden death of a child due to DCM. [Mestroni et al., 1999] The end point for DCM is heart failure. [Pahl, 2010] Mutations in over 30 genes have been identified as the main causes of familial and sporadic DCM (~ 33% of cases) [Gru ̈nig et al., 1998; Jefferies et al., 2010; Macara 2001; Michels et al., 1992;

Hypertrophic cardiomyopathy (walls of ventricles become thick) with thickening of the walls also come stiffness resulting in the heart being unable to fill adequately also reducing the stroke volume

“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.

As defined by www.google.com/palpitations, a palpitation is a noticeably strong, rapid, irregular heart beat. This happens due agitation of heart muscles, over use, or illness. Cardiomyopathy is also called heart muscle disease, this can be hereditary or acquired. . Symptoms of this are swelling in the legs and feet, a bloated stomach and breathlessness. Some individuals experience abnormal heart rhythm or dizziness. There are three types of cardiomyopathy, dilated which is when the heart become enlarged. Hypertrophic cardiomyopathy is when the tissue on the heart starts to thicken, often some tissues are thicker than the

Arrhythmogenic right ventricular cardiomyopathy (ARVC) (1) is an inherited disease characterized by the progressive replacement of the myocardium by adipose and fibrous tissue (2) that predisposes to the development of ventricular tachycardia (VT) and to sudden cardiac death (SCD). This condition was described three decades ago, when fibro-fatty infiltration in the right ventricle was considered its pivotal indicator (3,4). It later became clear that the ARVC is mainly caused by mutations in the genes encoding for desmosomal proteins (1). This helped unveil that the disorder is often associated with biventricular manifestations (5) and the term "arrhythmogenic cardiomyopathy" has also been proposed (1). The unmet need in the management