Mutations in Titin, a large sarcomeric protein that maintains structure & participates in signaling, are the most common cause of dilated CM (approximately 20% of known cases). In 2006, the American Heart Association defined cardiomyopathies as:, "...a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. More than 20 viruses can cause dilated cardiomyopathy; in temperate zones, coxsackievirus B is most common. V122I gene mutation : Amyloidosis & Heart Failure :: BRCA1/2 gene mutation : Breast CA, 10% of people >80yo & 50% of people >90yo. Differentiating Cardiomyopathy from other Diseases, Natural History, Complications and Prognosis, Cardiomyopathy pathophysiology On the Web, American Roentgen Ray Society Images of Cardiomyopathy pathophysiology, Cardiomyopathy pathophysiology in the news, Directions to Hospitals Treating Cardiomyopathy, Risk calculators and risk factors for Cardiomyopathy pathophysiology, Editor-In-Chief: C. Michael Gibson, M.S., M.D. focal vasoconstriction in coronary artery in the setting of tachycardia, akin to ischemia-reperfusion with subsequent inflammation. Cyclophosphamide & Ifosfamide cardiotoxic in high doses. SmartDraw includes 1000s of professional healthcare and anatomy chart templates that you can modify and make your own. Pathophysiology of Dilated Cardiomyopathy. Early on there may be few or no symptoms. Additionally proposed mechanisms associated with, increased susceptibility to viral myocarditis, cross-reactivity of anti-uterine antibodies vs. cardiac muscle causing an autoimmune myocarditis, microvascular angiogenic imbalance within myocardium, abnormal prolactin cleavage fragment, induced by oxidative stress → Myocardial apoptosis, TNF-alpha & interleukin-6 elevated in PPCM compared with controls, Increased levels of C-reactive protein & Fas/Apo-1 (apoptosis signaling receptor) a/w more severe disease, sarcomeric protein mutations: TTN-truncating variant (gene encoding Titin). Path on endomyocardial biopsy: infiltration with lymphocytes ad mononuclear cells with a high proportion of eosinophils. Restrictive CM is relatively uncommon and presents largely with symptoms of right-sided heart failure (HF) and diastolic dysfunction. VEGF), develop severe DCM. LVEF <45%. Caused by one of >160 mutations (Allelic heterogeneity), Lamellar inclusions of glycosphingolipids, Most are diagnosed early in childhood & die before adulthood, Fibrotic restrictive CM can coexist with constrictive pericarditis. Two-thirds of dilated CM remain classified as idiopathic, reflecting the need for further investigation. Circulation 2003; 107:2227. By David Richfield (User:Slashme)When using this image in external works, it may be cited as follows:Richfield, David (2014). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Orthopnea 4. Incidence varies across the world. Read our disclaimer for details. A disease primarily afflicting post-menopausal women, it is frequently mistaken for acute anterior wall myocardial infarction. 1. Respected digital resource of independent, expert-led cardiovascular education through the provision of a personalised learning experience Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Important etiologies of Dilated CM are listed below in Table 2. arterial dilators), Afib is common in patients with HCM. Cardiac output is decreased which activates the renin-angiotensin-aldosterone system, the sympathetic autonomic nervous system, and increase the release of the atrial natriuretic peptide. Cardiomyopathy is any structural and functional abnormality of the heart muscle unattributable to specific causes or disease processes such as coronary artery disease (CAD), congenital heart disease, or valvular disease. In cardiomyopathy, the heart muscle becomes enlarged or abnormally thick or rigid. This overlap in classification underscore the limitations of phenotypic classification system. Men more likely to display symptoms as they have a higher burden disease. Ischemic Cardiomyopathy. Most common infective cause of cardiomyopathy, Third most common parasitic infection in the world, Named after the Brazilian physician, Dr. Carlos Chagas, who discovered the disease in 1909, Mechansim of action (MOA): Both direct & indirect mechanisms, Direct - Parasite → myocyte lysis & neuronal damage, Indirect - Chronic immune system activation, Same two clinical phases listed above for. Therefore, the discussion below will focus on this classification. Chest pain, primarily in patients with amyloidosis or due to angina 9. Absence of another identifiable cause for the HF. Cardiomyopathy refers to diseases of the heart muscle. The LV may or may not be dilated. >100 identified mutations in Transthyretin on chromosome 13 (locus heterogeneity). At present, HIV may interact with other viruses to produce "multiple-hits" to the myocardium and increase susceptibility to disease. These diseases have a variety of causes, symptoms, and treatments. Hypertrophic cardiomyopathy occurs when the ventricle muscle thickens and this causes contraction of the heart to be stiff. Emerging additional categories include arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and unspecified CM. It is distinct from structural cardiac disorders such as coronary artery disease, valvular disorders, and congenital heart disorders. - 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. Same mutation in related individuals can produce different phenotype, Various patterns of pattern of hypertrophy concentric vs. asymmetric, presence or absence of outflow obstruction, development of Afib or malignant arrhythmia, SCD), A majority of the work on the genetics of cardiomyopathy was initially completed in this population, With advances in genetics, linkage analyses identified, >1400 mostly missense mutations in 9 different genes. Intestinal dysfcn (diarrhea, s/p resection), Most common reason for thyroid abnormalities in patient with cardiac dyscrasias are treatment of tachyarrhythmias with amiodarone. Restrictive CM is the least common CM phenotype. Genetics play an important and increasing role in the pathophysiology of CM. Often asymptomatic. highlights the expanding role of genetics, Usually represent mutations on several domains on TTN gene (e.g.  Genetic cause include HCM, ARVD/C, ion channel disorders, storage and infiltrative diseases. Our knowledge of this disease entity has progressed significantly since the term was first used in 1957. Approximately 30% of Dilated CM (DCM) cases are familial. In Central and South America, Chagas disease due to Trypanosoma cruzi is the most common infectious cause. Cardiomyopathies are divided into 3 main types based on the pathologic features (see figure Forms of cardiomyopathy): This results from a failed attempt to ration increasingly insufficient resources following myocyte injury pictured below, in Figures 2 and 3: Figure 3, below, expounds in detail on the failed attempts of the heart to adjust to significant myocardial injury, underlying the dilated CM phenotype. Transferrin >60% : men :: Transferrin 45-50% : women, MC mutation = TTN encoding titin (25% of familial disease), Ventricular Tachycardia & SCD a/w DESMOSOMAL proteins. Can cause fatal myocarditis, HF, heart block, myocardial fibrosis and cardiomyopathy. Palpitations several proteins can fold into Beta-pleated sheets, causing phenotypic variability. inherited metabolic disorders, sarcoidosis, hemachromatosis, etc.) Transmitted by undercooked pork, Cat feces, organ transplant, transfusion, Vertical Transmission (~T. Cardiomyopathy refers to diseases of the heart muscle. Peripartum cardiomyopathy (PPCM) is a potentially life-threatening heart disease that emerges towards the end of pregnancy or in the first months postpartum, in previously healthy women. Time course varies from patient to patient. Unfortunately, because some people don’t experience any symptoms, the first sign can be sudden death. Delineation may be arbitrary, as a study found no differences between PPCM and ePACM in the following characteristics: age, race, associated conditions, LVEF, the rate & time of recovery, maternal outcomes, Myocardial depression can quickly develop and reverse with appropriate treatment, Largely secondary to Lymphocytes, cytokines, and antibodies, Eti: 5-6 drinks (4 oz of pure EtOH) QS for 5-10years, MOA: Direct toxicity of both Alcohol & its metabolite, acetaldehyde, Genetic polymorphisms of genes encoding alcohol dehydrogenase & ACE make individuals at an increased risk of developing CM with prolonged alcohol exposure, Late: Persistent Afib, Withdrawal can worsen HF or arrhythmias Improvement can happen after 3-6months of abstinence, Excess catecholamines can cause multifocal contraction band necrosis, likely secondary to calcium overload causing direct myocyte toxicity OR. Sarcomeric genes identified associated with mutations causing DCM & HCM (e.g. The different etiologies of cardiomyopathy (CM), resulting in abnormal heart structure and function are myriad. Currently, treatment of CM is driven primarily by phenotype. . Limited by incomplete data. Z-disc, I-band, M-band) rather than just A-band mutations, MYH7 and TTN A-band mutations most commonly associated with DCM, MYBPC3 gene mutations most commonly associated with HCM, Highest risk of systolic dysfunction, MACE, DCM without LVNC in relatives. ß-hemolytic strept associated with Rheumatic Fever → inflammation & fibrosis of cardiac valves and systemic tissue. Cardiovascular disease is a common complication of diabetes responsible for 80% of … MYBPC3 > MHY7 (sarcomeric) gene mutations : Most common mutations in HCM :: V122I : Most common mutation in Amyloidosis, especially African Americans. Table 1 below lists the various gene products implicated in cardiomyopathy. Small vessel spasm and ischemia → small, stiff heart with rEF without dilation, Concomitant Pulmonary HTN accentuates Right HF present in most restrictive diseases, Primarily a dilated CM with restrictive component, Fibrosis limits the degree of dilation possible, Most common cause of Endomyocardial fibrosis near the equator, May comprise up to 25% of CHF in these regions, End stage of prior hypereosinophilic disease triggered by endemic parasites, Fibrosis obliterating the ventricular apex, extending to valvular apparatus, like Löffler's endocarditis, Associated with pericardial effusions, unlike Löffler's endocarditis, Fibrosis obliterating the ventricular apex, extending to valvular apparatus : Tropical endomyocardial fibrosis, Most common cause of Endomyocardial fibrosis outside of equatorial regions, Hypereosinophilic syndrome associated with myeloproliferative disorders are often secondary to chromosomal rearrangements involving platelet-derived growth factor receptor (PDGFR), creating a fusion gene yielding a constitutively active PDGFR tyrosine kinase, Treatment with Imatinib (TKI) has produced hematologic remissions and reversal of endomyocarditis, HAN : most common (MC) identifiable cause of Eosinophilia :: CHINA : most common cause of (MCC) eosinophilia. WikiJournal of Medicine 1 (2). Pericardiectomy does not work well in this setting. This … DOI:10.15347/wjm/2014.009.   The many causes of Dilated CM all share the following phenotype: Enlarged heart, decreased systolic function. With greater understanding of the impact of neuroendocrine stimulation in heart disease, the unders … Cardiomyopathy can lead to heart failure.The main types of cardiomyopathy include dilated, hypertrophic and restrictive cardiomyopathy. may cause more than one type of CM. Others, include Thiazides, Anticonvulsants, Indomethacin, Methyldopa. In this video the pathophysiology of restrictive, hypertrophic, and dilated cardiomyopathy is discussed. Duchenne or Becker muscular dystrophy, Danon disease), Dietary-induced fluid retention (e.g. Generally, repeated cycles of the process shown above in Figure 5 → relatively nondilated ventricle secondary to underlying fibrosis → reduced EF (30-40%), unable to compensate by myocyte hypertrophy (due to underlying fibrosis). More than 20 viruses can cause dilated cardiomyopathy; in temperate zones, coxsackievirus B is most common. Types of Cardiomyopathy Hypertrophic cardiomyopathyoccurs when the heart muscle thickens abnormally.Dilated cardiomyopathy affects the heart's ventricles and atria. 80% of HCM patients have a mutation in either Myosin-binding protein C (. Study by van Waning et al. Mutations in this gene have been associated with a number of cardiomyopathies. Pathophysiology depicted below in Figure 7. Gradually worsening shortness of breath 2. A normal sarcomere is pictured above in Figure 1. Cardiomyopathy Pathophysiology In 2006, the American Heart Association defined cardiomyopathies as:  "...a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. Hypertrophic Cardiomyopathy with or without obstruction is characterized by a thickened, hypertrophic left ventricular wall, with hyperdynamic cardiac function, and no associated hemodynamic factors (HTN, Aortic valve disease, Systemic infiltrative/storage disease). This leads to enlargement of the inside of the ventricle.Source: U.S. Department of Health and Human Services, National Institutes of Health, National Heart Lung and Blood Institute. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. RadcliffeCardiology article image Figure 2: Pathophysiology of Takotsubo Cardiomyopathy. physical disruption from infiltrating amyloid fibrils. Paroxysmal nocturnal dyspnea 7. 2012; 154:328–332. Conduction disease lasting 1-2 weeks after Abx, MOA: secondary to Antibodies & Cytokines from prior physical injury & viral infection, Patients with Pulmonary Sarcoidosis at higher risk for cardiac involvement, Thought to have an infectious or environmental trigger, as regional clustering of cases. Etiologies varied, including Eosinophilic granulomatosis with polyangiitis (EGP, formerly Churg-Strauss), antecedent infection (Mediterranean & African countries), and malignancies. On the individual sarcomere level, HCM mutations produce modification in regulatory proteins leading to: This changes on a microscopic level lead to disorganized hypertrophy, causing a cycle of: Only 15% derived from sarcomeric mutations, Fibrosis, disorganized hypertrophy, and microvascular disease contribute to, This occurs via drag forces push the anterior mitral leaflet in contact with hypertrophied ventricular septum, Compared to individuals without HCM, the anterior mitral leaflet is anteriorly displaced & thickened from fibrous endocardial plaque deposition), Presyncope & hypotension can result from decreased preload (e.g. Hep C is a major cause of myocarditis & DCM, particularly in endemic countries, RNA viruses: enterovirus, echovirus, polioviruses. Infective and non-infective-related causes must be distinguished. V122I transthyretin mutation is present in 10% of African Americans with heart failure and approximately ~4% of the African Americans population. Takotsubo cardiomyopathy (TC) is characterized by reversible ventricular dysfunction, not limited to the distribution of an epicardial coronary artery. Subtypes listed below in order of decreasing severity. Severity of clinical disease is usually commensurate with an increasing number of mutations. Inflammation resolves into areas of fibrosis that can serve as nidus for reentrant circuits. 3 different presentations of Anthracycline toxicity, grouped by chronology: Presentation depends on the age the dose of anthracycline was received: If managed appropriately, patient can live for years with compensated cardiac function, Tyrosine kinase inhibitors (e.g. . Int J Cardiol. Takotsubo cardiomyopathy has a unique cardiac biomarker profile: NT-proBNP/myoglobin and NT-proBNP/troponin T ratios for the differential diagnosis of acute coronary syndromes and stress induced cardiomyopathy. Buy PDFs here: http://armandoh.org/shop I design my own shirts please support :)"Cardiomyopathies are diseases of the heart muscle tissue. 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). This may include heart valves, mural endocardium or the endocardium that covers implanted material, such as prosthetic valves, pacemaker/defibrillator leads and catheters. 3rd trimester through 6 months postpartum, with no prior cardiac disease (often presumed). Common cause of sudden cardiac death from malignant arrythmias (VTach, VFib). Definition - imprecise due to varied criteria across many international societies. tap diagram to zoom and pan Copy of New Pathophysiology of Pneumonia--You can edit this template and create your own diagram. 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