Alternatively called … Those affected are at an increased risk of sudden cardiac death. V122I gene mutation : Amyloidosis & Heart Failure :: BRCA1/2 gene mutation : Breast CA, 10% of people >80yo & 50% of people >90yo. Dilated and Hypertrophic CM, which share symptoms of left heart failure, can be distinguished by a patient's ejection fraction (EF), left ventricular (LV) wall thickness, and LV end diastolic volume (LVEDV). Sarcomeric genes identified associated with mutations causing DCM & HCM (e.g. Kearns-Sayre syndrome)/Arrhythmogenic ventricular dysplasia/Hemochromatosis/associated with other systemic disease/Susceptibility to immune-mediate myocarditis, "Minimally dilated CM"/Hemochromatosis/Amyloidosis/Hypertrophic CM, Arrhythmogenic Ventricular (RV>LV) dysplasia, Hemochromatosis, Inherited metabolic defects (Fabry's, Gaucher's), Radiation (breast/lung CA, Mediastinal lymphoma), Possibly related fibrotic disease (Tropical endomyocardial fibrosis, Hypereosinophilic syndrome (Löffler's endocarditis)), Hypertrophic cardiomyopathy/"pseudohypertrophic", Encodes Myosin (thick filament 15nm), Actin (thin filament 7nm),Titin (elastic elements 1nm), associated regulatory proteins, Stabilizing and connecting the cell membrane to intracellular structures, Mutations impair transmission of force and signaling for cardiac & skeletal muscle → combined cardiac & skeletal, Defects impair energy production, causing symptoms ranging from impaired cognitive function to skeletal, Phenotype depends on the distribution of maternal mitochondria during embryonic development, Prior to HAART, HIV represented 1-2% of cases of dilated cardiomyopathy. Restrictive CM is relatively uncommon and presents largely with symptoms of right-sided heart failure (HF) and diastolic dysfunction. Patients developing disease later in life have fare better than those with disease in adolescence/young adulthood. Based on ratio between severely thickened myocardium with noncompacted layer ≥ 2x as thick as compacted layer (measured in short axis view), Very frequent nonsustained Ventricular tachycardia or High PVC burden, Prevalence 1:500 (~Hereditary hemochromatosis), Risk of Sudden Cardiac Death in patients with HCM is 0.5%, Transmitted in an Autosomal Dominant pattern, HCM is age dependent, with incomplete penetrance. Infective and non-infective-related causes must be distinguished. Unfortunately, because some people don’t experience any symptoms, the first sign can be sudden death. Etiologies varied, including Eosinophilic granulomatosis with polyangiitis (EGP, formerly Churg-Strauss), antecedent infection (Mediterranean & African countries), and malignancies. >100 identified mutations in Transthyretin on chromosome 13 (locus heterogeneity). Severity of clinical disease is usually commensurate with an increasing number of mutations. Cyclophosphamide & Ifosfamide cardiotoxic in high doses. It usually starts in the left ventricle, where the heart muscle begins to dilate or stretch and become thinner. Weight loss, cardiac cachexia 6. Types of Cardiomyopathy Hypertrophic cardiomyopathyoccurs when the heart muscle thickens abnormally.Dilated cardiomyopathy affects the heart's ventricles and atria. 1. Pathophysiology of HCM can be summarized in three aspects: secondary to early activation of profibrotic pathways, Interstitial fibrosis detectable before overt hypertrophy, Focal areas of 'replacement fibrosis' detectable on MRI before hypertrophy present, Myocardial fibroblast exaggerated response to primary myocardial dysfunction, Areas of scarring may represent substrate for malignant ventricular arrhythmias (MCC of death in this population), Over time, fibrosis → diastolic dysfunction, Microinfarction of hypertrophied myocardium proposed mechanism for replacement scar formation. Important etiologies of Dilated CM are listed below in Table 2. Diphtheria releases a toxin that impairs protein synthesis & disrupts the conduction system. Fatigue 5. These diseases have many causes, signs and symptoms, and treatments. Pericardiectomy does not work well in this setting. Genetics play an important and increasing role in the pathophysiology of CM. The most common modes of transmission is Autosomal Dominant, followed by X-linked inheritance. Many postulate a yet undiscovered genetic basis for many of these CM.[1][2][3][4]. Highest in 1:100 in Zaria, Nigeria, due to the Hausa tribe's (predominantly located in Northern Nigeria) custom of eating kanwa, a dry lake salt, for forty days after delivery, around 1 in 1000 to 4000 live births in the United States, Mice lacking cardiac PGC-1α, a regulator of pro-angiogenic factors (e.g. cruzi), Immunocompromised, more likely to have reactivation of latent infection from cysts, Symptoms (Sx): Myocarditis, pericardial effusion, constrictive pericarditis, CHF + chorioretinitis + encephalitis, Trichinella larvae migrate into skeletal Mm → myalgias, weakness, fever, Trichinellosis : Trichinella spiralis larva found in uncooked meat :: Toxoplasmosis : found in undercooked meat, Cat litter, CHF occurs secondary to a eosinophilic inflammatory response. Hyperthyroidism and heart failure warrants very close inpatient monitoring, as decompensation may occur rapidly and have fatal consequences. Cardiomyopathy: Gross apical slice of left and right ventricles concentric hypertrophy with cavitary obliteration sudden unexpected death obstructive cardiomyopathy, Dilated Cardiomyopathy: Gross natural color close-up view of heart surgically removed for a transplantation shows aortic valve and anterior leaflet of mitral valve with cholesterol deposits endocardium of left ventricle is diffusely thickened, Cardiomyopathy: Gross montage of ventricular slices showing hypertrophy and about normal ventricular lumen size a hypertrophic non-dilated cardiomyopathy, Cardiomyopathy: Gross ventricular slices hypertrophy and extensive myocardial fibrosis a unique case of global fiber disarray with atrophy and fibrosis, Cardiomyopathy: Gross close up view of a ventricle slice, Cardiomyopathy: Gross excellent ventricular slice with hypertrophy and fibrosis a unique case of global fiber disarray with hypertrophy then atrophy and then fibrosis, Cardiomyopathy: Gross external view of globular heart with patchy fibrosis seen through epicardium, Cardiomyopathy: Gross interventricular septum showing asymmetrical hypertrophy in posterior septum, Cardiomyopathy: Gross hypertrophic cardiomyopathy obstructive excellent section through left ventricle outlet to show subvalvular narrowing case of sudden death in a 27 yo male playing basketball no history of disease, Cardiomyopathy: Gross obstructive cardiomyopathy showing aorta outflow tract with marked endocardial thickening mitral valve appears normal (Same case as previous one), Cardiomyopathy: Gross excellent view of mitral valve atrial surface showing thickening which is fibrous in body of valve and myxoid at area of free margin changes presumed secondary to insufficiency due to anterior motion, Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening this is what has been called adult fibroelastosis, Dilated Cardiomyopathy: Gross good example huge dilated left ventricle, Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis (an excellent example), Cardiomyopathy: Gross intact globular shaped heart, Dilated Cardiomyopathy: Gross opened left ventricle dilated with endocardial thickening good example, Cardiomyopathy: Gross globular heart external view 10 year old girl with sickle cell anemia, Cardiomyopathy: Gross horizontal sections of ventricles dilation type 10 year old girl with sickle cell anemia, Cardiomyopathy: Intermediate between hypertrophic and dilated, Cardiomyopathy Asymmetrical Septal Hypertrophy, Dilated Cardiomyopathy: Gross opened globular left ventricle natural color (very good example), Diabetic Cardiomyopathy: Gross natural color moderately hypertrophied heart shown in horizontal section hyperemic subendocardium has no microscopic lesion long standing type I diabetic patient, no significant coronary artery lesions, congestive heart failure, Dilated Cardiomyopathy: Gross natural color external view globular heart 500 gm 24yo female seven pregnancies, Cardiomyopathy: Micro H&E high mag excellent example myofiber disarray, Cardiomyopathy: Micro H&E low mag interventricular septum at junction of normal myofiber orientation with asymmetrical hypertrophy (an excellent example), Cardiomyopathy: Micro trichrome low mag bizarre vacuolated fibers with disarray and focal fibrosis excellent low mag epicardial surface, Alcoholic Cardiomyopathy: Micro plastic section lipid in perinuclear area loss of myofibrils. A normal sarcomere is pictured above in Figure 1. Cardiomyopathy (kahr-dee-o-my-OP-uh-thee) is a disease of the heart muscle that makes it harder for your heart to pump blood to the rest of your body. 2010 European Society of Cardiology's listed below. Dilated cardiomyopathy is the most common type of cardiomyopathy.Although most cases are idiopathic, a number of conditions (e.g., coronary artery disease, wet beriberi), infections … Cardiomyopathies are divided into 3 main types based on the pathologic features (see figure Forms of cardiomyopathy): direct toxicity from immunoglobulin light chain & abnormal transthyretin protein aggregates. Path on endomyocardial biopsy: infiltration with lymphocytes ad mononuclear cells with a high proportion of eosinophils. [1]. V122I transthyretin mutation is present in 10% of African Americans with heart failure and approximately ~4% of the African Americans population. Dilated cardiomyopathy has many known and probably many unidentified causes (see table Causes of Dilated Cardiomyopathy). Hypertrophic cardiomyopathy occurs when the ventricle muscle thickens and this causes contraction of the heart to be stiff. Activated viral proteases (e.g enteroviral protease 2A) can activate host tyrosine kinases to facilitate further viral entry as well as facilitate viral replication and infection through degradation of dystrophin, Innate immune response depends on Toll-like receptors to recognize common antigenic patterns, Initial immune response critical to limiting viral injury, Early immunosuppresion can increase viral replication & worsen cardiac injury, Timely downregulation of resultant adaptive immune response also important to prevent autoimmune injury, Ongoing cytokine release activates matrix matalloproteinases (MMP), Inappropriately high levels of MMP can destroy the collagen & elastin cytoskeleton, potentially leading to a dilative CM physiology. - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=2264027, Fabry's disease (alpha-galactosidace A deficiency), https://www.wikidoc.org/index.php?title=Cardiomyopathy_pathophysiology&oldid=1582960, Creative Commons Attribution/Share-Alike License, Viral/Parasitic/Bacterial/Fungal/Spirochetal/Ricketsial/Fungal, Granulomatous inflammatory diseases/Eosinophilic myocarditis/Hypersensitivity myocarditis/Polymyositis-Dermatomyositis/Collagen Vascular Disease/Pregnancy/Transplant Rejection, Most common etiology, comprising >10% of cases of DCM, Amphetamines, Cocaine, Pheochromocytoma, Stress-induced CM (Takotsubo's), Adramycins, Tyrosine Kinase Inhibitors, immune checkpoint inhibitors, Hydroxychloroquine, Chloroquine, Lithium, phenothiazine antipsychotics, antiretroviral therapies, lead; mercury (amalgam fillings, cinnabar); cobalt (tainted beer production), Skeletal & Cardiac myopathy/Dystrophin-related dystrophy (Duchenne's, Becker's) - X-linked/Mitochondrial myopathies (e.g. Pathophysiology Flow Chart ( Block Diagram) ... Edit this Diagram. Crossref Medline Google Scholar; 11. Historically, CM has been grouped in three different categories by phenotype or symptomatic presentation (later confirmed through echocardiographic and autopsy studies), ranging from dilated to restrictive to hypertrophic forms of CM. The genetic basis of hypertrophic cardiomyopathy (HCM) is well established. MYBPC3 > MHY7 (sarcomeric) gene mutations : Most common mutations in HCM :: V122I : Most common mutation in Amyloidosis, especially African Americans. Ischemic Cardiomyopathy. Two-thirds of dilated CM remain classified as idiopathic, reflecting the need for further investigation. Cardiomyopathies are diseases of the muscle tissue of the heart.Types of cardiomyopathies include dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathy. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. 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