![]() ![]() thickening) may occur in any of the left ventricular segments but commonly involves the interventricular septum and is usually asymmetrical. The most common mutation is in the gene that encodes the beta myosin heavy chain and the inheritance is usually autosomal dominant. HCM is commonly due to an abnormal gene that encodes one of the sarcomere proteins needed for myocardial contraction. In the adult population, the prevalence of HCM is estimated at 1 in 500. In HCM, there is increased ventricular mass in the absence of ‘loading’ conditions such as hypertension or valvular disease. HCM is defined as increased ventricular wall thickness or mass not caused by pathologic loading conditions. Examples include Myotonic dystrophy, Fabry disease, or Glycogen storage disease. In other cases, the abnormal gene may cause a widespread genetic disease involving multiple organs of which cardiomyopathy is one component of the disease spectrum. Examples include beta-myosin heavy chain, troponin, or desmoplakin mutations. These commonly have an autosomal dominant inheritance. In these cases, cardiomyopathy often presents as the lone abnormality. The abnormal gene often encodes important structural cardiac proteins such as sarcomere proteins or intercalated disc proteins. Alternatively, they may develop a de novo variant (a new mutation not inherited from the paternal or maternal line). This refers to a genetic cause when a patient inherits an abnormal copy of a gene known as a variant or mutation. Coxsackie virus, Brucellosis, Lyme disease) This refers to a large number of causes that may include For example, amyloidosis of the heart can cause both hypertrophic or restrictive cardiomyopathy. Some conditions may present as more than one cardiomyopathy phenotype. There are many causes of cardiomyopathy that can be genetic, acquired, or mixed.Įach cardiomyopathy phenotype has a large list of both inherited and acquired causes. These cardiomyopathy phenotypes may be limited to the heart or form part of a systemic disease process (e.g. Non-familial (acquired): cardiomyopathy phenotype that develops due to a clear acquired cause (e.g.Familial (inherited): cardiomyopathy phenotype that develops due to a genetic variant (mutation).impaired contraction, abnormal filling).Įach phenotype listed above is then further divided into familial and non-familial causes. dilated, thickened) and how they behave physiologically (e.g. This means what they look like structurally (e.g. The cardiomyopathies are classified based on morphological and functional phenotypes. Thus, cardiomyopathy is a disease of heart muscle that cannot otherwise be explained by common cardiovascular diseases or congenital heart disease. ‘ A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality’ ![]() In 2008, the European Society of Cardiology (ESC) proposed a new definition for cardiomyopathy as hypertension, coronary artery disease) to rare genetic conditions.Ĭonsequently, a number of definitions have been proposed over the years to help differentiate these many causes and their pathophysiological mechanisms. However, many conditions can affect heart muscle from common cardiovascular diseases (e.g. In very simple terms it means disease of the heart muscle. The term cardiomyopathy can be very confusing in clinical practice. Cardiomyopathy refers to disease of the heart muscle. ![]()
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