Materiały źródłowe

• #1 Dilated Cardiomyopathy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441911/

  Dilated Cardiomyopathy (DCM) is a disease of the heart muscle characterized by enlargement and dilation of one or both of the ventricles along with impaired contractility defined as left ventricular ejection fraction (LVEF) less than 40%. By definition, patients have systolic dysfunction and may or may not have overt symptoms of heart failure. This disease process can be classified as either primary or secondary DCM. Primary DCM is considered idiopathic and the diagnosis can only be made after excluding secondary causes. […] Evaluation for secondary causes of dilated cardiomyopathy (DCM) always should be pursued prior to making the diagnosis of idiopathic DCM. Workup is focused on identifying any possible reversible causes. Recommended laboratory testing includes thyroid function tests, HIV serology, electrolytes, and iron studies (to rule out hemochromatosis). Urine toxicology screen and alcohol level can be checked when substance abuse is suspected. In certain familial cases, genetic testing should be considered. Serum B-type natriuretic peptide (BNP) levels may be obtained in cases where the diagnosis is unclear. Low levels of BNP are useful in ruling out CHF. In addition, levels of BNP are useful for prognosis.

• #2 Dilated Cardiomyopathy – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/cardiomyopathies/dilated-cardiomyopathy

  Diagnosis of dilated cardiomyopathy is by history, physical examination, and exclusion of other common causes of ventricular failure (eg, systemic hypertension, primary valvular disorders, myocardial infarction). […] Because other common causes of ventricular failure must be excluded, chest x-ray, ECG, echocardiography, and cardiac MRI are required. Endomyocardial biopsy is done in selected cases. […] Serum cardiac biomarkers are measured if acute symptoms or chest pain is present. […] Chest x-ray shows cardiomegaly, usually of all chambers. […] The ECG may show sinus tachycardia and nonspecific ST-segment depression with low voltage or inverted T waves. […] Echocardiography shows dilated, hypokinetic cardiac chambers and rules out primary valvular disorders. […] Cardiac MRI is useful in providing detailed imaging of myocardial structure and function. […] Endomyocardial biopsy is indicated if giant cell myocarditis, eosinophilic myocarditis, or sarcoidosis is suspected, as the results will affect management.

• #3 Causes of dilated cardiomyopathy – UpToDate

  https://www.uptodate.com/contents/causes-of-dilated-cardiomyopathy

  Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of one or both ventricles. Affected patients have impaired systolic function and may or may not develop overt heart failure (HF). The presenting manifestations can include atrial and/or ventricular arrhythmias, and sudden death can occur at any stage of the disease. […] A diagnosis of dilated cardiomyopathy requires evidence of dilation and impaired contraction of the left ventricle or both ventricles (eg, left ventricular ejection fraction <40 percent or fractional shortening less than 25 percent). The disease is considered idiopathic if primary and secondary causes of heart disease (eg, myocarditis and coronary artery disease) are excluded by evaluation including history and physical examination, laboratory testing, coronary angiography (to exclude >50 percent obstruction of one or more coronary arteries), echocardiography, and endomyocardial biopsy when indicated.

• #4 Dilated cardiomyopathy – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dilated-cardiomyopathy/diagnosis-treatment/drc-20353155

  To diagnose dilated cardiomyopathy, your health care provider will do a physical exam and asks questions about your personal and family medical history. The provider will use a device called a stethoscope to listen to your heart and lungs. You may be referred to a doctor specializing in heart disease (cardiologist). […] Tests to diagnose dilated cardiomyopathy include: […] Echocardiogram. This is the main test for diagnosing dilated cardiomyopathy. Sound waves produce images of the heart in motion. An echocardiogram shows how blood moves in and out of the heart and heart valves. It can tell if the left ventricle is enlarged. […] Blood tests. Different blood tests can be done to check for infections, substances or diseases such as diabetes or hemochromatosis that may lead to dilated cardiomyopathy.

• #5 Dilated Cardiomyopathy: Symptoms and Treatment

  https://my.clevelandclinic.org/health/diseases/16932-dilated-cardiomyopathy

  A healthcare provider will start by taking your medical history and family history. Theyll perform a physical exam that may include listening to your lungs to check for fluid build-up. Your provider may hear a heart murmur before you even have symptoms. […] Testing will determine the severity and help healthcare providers plan your dilated cardiomyopathy treatment. […] Tests you may need include: Angiogram to look for narrow areas in your coronary arteries, which send blood to your heart, Blood tests like one that checks for heart damage, Chest X-ray to see if your heart looks larger than a typical heart, Echocardiogram to show how well your heart works, Electrocardiogram (EKG) to check for abnormal heart rhythms, Exercise stress test to see the impact of physical activity on your heart, Genetic testing to find out if you inherited cardiomyopathy, Heart MRI to show your ventricles size and function, Endomyocardial biopsy (rarely used to examine a tissue sample).

• #6 Causes of dilated cardiomyopathy – UpToDate

  https://www.uptodate.com/contents/causes-of-dilated-cardiomyopathy

  Symptoms of heart failure (progressive dyspnea with exertion, impaired exercise capacity, orthopnea, paroxysmal nocturnal dyspnea, and peripheral edema) are most common. Other presentations include the incidental detection of asymptomatic cardiomegaly and symptoms related to coexisting arrhythmia, conduction disturbance, thromboembolic complications, or sudden death.

• #7 Diagnosis and management of dilated cardiomyopathy | Heart

  https://heart.bmj.com/content/84/1/106.short

  Dilated cardiomyopathy is a heart muscle disorder defined by the presence of a dilated and poorly functioning left ventricle in the absence of abnormal loading conditions (hypertension, valve disease) or ischaemic heart disease sufficient to cause global systolic impairment. […] The first presentation of IDC may be with systemic embolism or sudden death, but patients more typically present with signs and symptoms of pulmonary congestion and/or low cardiac output, often on a background of exertional symptoms and fatigue for many months or years before their diagnosis. […] A careful family history facilitates diagnosis of inherited causes of IDC by characterising the family phenotype, and also defines the scope of family screening.

• #8 Dilated cardiomyopathy: a review of literature on clinical status and meta-analysis of diagnostic and clinical management

  https://www.oatext.com/dilated-cardiomyopathy-a-review-of-literature-on-clinical-status-and-meta-analysis-of-diagnostic-and-clinical-management.php

  It is clinically important in DCM to exclude other etiologies of cardiomyopathy with phenotypic overlap. […] The DCM diagnostic process consists of clinical (first-line) and second-line diagnosis. […] Clinical diagnosis determines suspected DCM etiology based on patient/family history and physical signs and symptoms. […] The aim of second-line evaluation is to exclude other causes of myocardial disorder thereby providing a confirmatory diagnosis of DCM. […] DCM is considered to have a genetic origin after the exclusion of secondary causes of ventricular dysfunction such as hypertension, myocarditis, valvular disease or exposure to toxins or environmental pathogens. […] The goal of analyzing patient history is to detect previous diagnostic clues such as myocardial disorders. […] The next step is to record detailed family history to identify family members suspected to have myocardial disorders or other diagnostic clues suggesting genetic etiology such as family history of heart failure, sudden cardiac death or heart implantation.

• #9 Dilated Cardiomyopathy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441911/

  Dilated Cardiomyopathy (DCM) is a disease of the heart muscle characterized by enlargement and dilation of one or both of the ventricles along with impaired contractility defined as left ventricular ejection fraction (LVEF) less than 40%. By definition, patients have systolic dysfunction and may or may not have overt symptoms of heart failure. This disease process can be classified as either primary or secondary DCM. Primary DCM is considered idiopathic and the diagnosis can only be made after excluding secondary causes. […] Evaluation for secondary causes of dilated cardiomyopathy (DCM) always should be pursued prior to making the diagnosis of idiopathic DCM. Workup is focused on identifying any possible reversible causes. Recommended laboratory testing includes thyroid function tests, HIV serology, electrolytes, and iron studies (to rule out hemochromatosis). Urine toxicology screen and alcohol level can be checked when substance abuse is suspected. In certain familial cases, genetic testing should be considered. Serum B-type natriuretic peptide (BNP) levels may be obtained in cases where the diagnosis is unclear. Low levels of BNP are useful in ruling out CHF. In addition, levels of BNP are useful for prognosis.

• #10 Cardiomyopathy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cardiomyopathy/diagnosis-treatment/drc-20370714

  Your healthcare professional examines you and usually ask questions about your personal and family medical history. You may be asked when your symptoms happen for example, whether exercise triggers your symptoms. […] Tests to diagnose cardiomyopathy may include: […] Blood tests may be done to check iron levels and to see how well the kidney, thyroid and liver are working. One blood test can measure a protein made in the heart called B-type natriuretic peptide (BNP). A blood level of BNP might rise during heart failure, a common complication of cardiomyopathy. […] A chest X-ray shows the condition of the lungs and heart. It can show whether the heart is enlarged. […] Sound waves are used to create images of the beating heart. This test can show how blood flows through the heart and heart valves.

• #11 Dilated Cardiomyopathy – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/cardiomyopathies/dilated-cardiomyopathy

  Diagnosis of dilated cardiomyopathy is by history, physical examination, and exclusion of other common causes of ventricular failure (eg, systemic hypertension, primary valvular disorders, myocardial infarction). […] Because other common causes of ventricular failure must be excluded, chest x-ray, ECG, echocardiography, and cardiac MRI are required. Endomyocardial biopsy is done in selected cases. […] Serum cardiac biomarkers are measured if acute symptoms or chest pain is present. […] Chest x-ray shows cardiomegaly, usually of all chambers. […] The ECG may show sinus tachycardia and nonspecific ST-segment depression with low voltage or inverted T waves. […] Echocardiography shows dilated, hypokinetic cardiac chambers and rules out primary valvular disorders. […] Cardiac MRI is useful in providing detailed imaging of myocardial structure and function. […] Endomyocardial biopsy is indicated if giant cell myocarditis, eosinophilic myocarditis, or sarcoidosis is suspected, as the results will affect management.

• #12 Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

  https://www.mdpi.com/2227-9059/11/3/834

  Accurately diagnosing dilated cardiomyopathy and stratifying patients based on arrhythmic risk is critical for guiding clinical decision-making and improving outcomes. […] A dedicated diagnostic workup will lead to an aetiology-oriented approach to help with risk stratification and advice on therapeutic interventions. […] Imaging is crucial for diagnosing DCM, risk stratification, management, and treatment monitoring. […] Cardiac magnetic resonance (CMR) is the gold standard technique for quantifying volumes and LVEF, with better accuracy and reproducibility than echocardiography. […] Identifying clinical features suggestive of specific diseases should lead to a second-level diagnostic workup that may include more specific biochemical analyses, endomyocardial biopsy, and genetic testing.

• #13 Dilated Cardiomyopathy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441911/

  Echocardiography is crucial in making the diagnosis of DCM and provides an objective assessment of ventricular size, function, and any associated valvular abnormalities. Echocardiography also can identify the presence of a mural thrombus. Finally, echocardiography can help in differentiating DCM from hypertrophic and restrictive cardiomyopathy.

• #14 Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol from the British Society of Echocardiography

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5574280/

  Heart failure (HF) is a debilitating and life-threatening condition, with 5-year survival rate lower than breast or prostate cancer. […] Transthoracic echocardiography (TTE) is the first-line step in diagnosis in acute and chronic HF and provides immediate information on chamber volumes, ventricular systolic and diastolic function, wall thickness, valve function and the presence of pericardial effusion, while contributing to information on aetiology. […] Dilated cardiomyopathy (DCM) is the third most common cause of HF and is the most common cardiomyopathy. […] Echocardiography is the first-line imaging test in the assessment of patients with DCM. It provides pivotal information not only for diagnosis, risk stratification and guiding treatment, but also plays a key role in screening family members.

• #15 Dilated cardiomyopathy – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dilated-cardiomyopathy/diagnosis-treatment/drc-20353155

  Chest X-ray. A chest X-ray shows the shape and condition of the heart and lungs. It can reveal fluid in or around the lungs. […] Electrocardiogram (ECG or EKG). This quick and easy test records the electrical activity of the heart. An electrocardiogram (ECG) can show how fast or how slow the heart is beating. Patterns in the signals can help diagnose heart rhythm disease or reduced blood flow. […] Holter monitor. This portable device can be worn for a day or more to record the heart’s activity during daily activities. […] Exercise stress test. This test often involves walking on a treadmill or riding a stationary bike while the heart is monitored with. Exercise tests help reveal how the heart responds to physical activity. If you can’t exercise, you might be given medications that mimic the effect of exercise on the heart.

• #16 Dilated cardiomyopathy – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dilated-cardiomyopathy/diagnosis-treatment/drc-20353155

  Heart (cardiac) CT or MRI scan. These imaging tests can show the size and function of the heart’s pumping chambers. A cardiac CT scan uses a series of X-rays to create detailed images of the heart. A cardiac MRI uses magnetic fields and radio waves. […] Cardiac catheterization. During this procedure, one or more long thin tubes (catheters) are inserted into a blood vessel, usually in the groin, and guided to the heart. Dye flows through the catheter to help the heart arteries show up more clearly on X-ray images. During cardiac catheterization, a sample of tissue (biopsy) can be taken to check for heart muscle damage. […] Genetic screening or counseling. Cardiomyopathy can be passed down through families (inherited). Ask your health care provider if genetic testing is right for you. Family screening or genetic testing might include first-degree relatives parents, siblings and children.

• #17 Dilated Cardiomyopathy (DCM) Workup: Approach Considerations, CBC Count and Metabolic Panel, Cardiac Biomarkers

  https://emedicine.medscape.com/article/152696-workup

  The workup in a patient with suspected dilated cardiomyopathy (DCM) may include the following: […] Endomyocardial biopsy has limited usefulness in the evaluation of DCM. However, it may be helpful in diagnosing myocarditis, connective tissue disorders, and amyloidosis. […] Echocardiography has become one of the most useful and most efficient diagnostic modalities in attaining a diagnosis and classification of cardiomyopathy. […] Echocardiography is used to help differentiate DCM from restrictive and hypertrophic cardiomyopathy. Dilated chambers and thin walls are the most prominent features of DCM. […] Cardiac MRI is useful in delineating myocardial tissue features, aiding in early diagnosis and precise cardiomyopathy phenotyping as well as for forming a differential diagnosis and determining risk stratification.

• #18 Dilated Cardiomyopathy (DCM) Workup: Approach Considerations, CBC Count and Metabolic Panel, Cardiac Biomarkers

  https://emedicine.medscape.com/article/152696-workup

  In a 2024 study that analyzed the predictive value of CMRI atrial assessment in 456 patients with nonischemic DCM, Brown et al found left atrial (LA) length was an independent factor for HF hospitalizations, HF death, and heart transplant (after adjustment for LV ejection fraction and NYHA class), with an LA length cutoff of at least 69 mm being the best for predicting HF events. […] Right-sided heart catheterization (RHC) can be beneficial in initially determining the volume status of a patient with equivocal clinical signs and symptoms of heart failure. […] In many cases of cardiomyopathy, endomyocardial biopsy is class II (uncertain efficacy and may be controversial) or class III (generally not indicated). […] The hallmark gross finding at autopsy is left ventricular dilatation, usually more than 4 cm. Cardiomegaly is usually considered a requisite for the diagnosis of DCM. […] The histologic features of DCM are nonspecific; therefore, it is a microscopic diagnosis of exclusion. Findings may include myocardial injury with inflammatory mediators (eg, macrophage derived, antibody/complement).

• #19 Dilated Cardiomyopathy (DCM): Definition, Types, Diagnostics & Treatment – The Cardiovascular

  https://ecgwaves.com/topic/dilated-cardiomyopathy-dcm-definition-types-diagnostics-treatment/

  Dilated cardiomyopathy (DCM) is defined as dilation of one or both ventricles. […] Echocardiography can not distinguish different types of dilated cardiomyopathy. Other causes of ventricular dilation (e.g ischemic cardiomyopathy) must be excluded before establishing a diagnosis of DCM. Patient characteristics, clinical features, family history and genetic testing are important clues in the investigation. Additional examinations (e.g coronary angiography, cardiac MRI) are frequently necessary. […] Genetic testing of patients with confirmed or likely dilated cardiomyopathy can be recommended. There are several commercially available gene panels, which enables testing of over 100 genes. […] In dilated cardiomyopathy (DCM), both ventricles are dilated and left ventricular systolic function is impaired (i.e ejection fraction is reduced).

• #20 Diagnosis and Evaluation of Dilated Cardiomyopathy

  https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2016/07/07/19/35/the-diagnosis-and-evaluation-of-dilated-cardiomyopathy

  Diagnosis and Evaluation of Dilated Cardiomyopathy […] The following are key points to remember from this review article about the diagnosis and evaluation of dilated cardiomyopathy (DCM), divided into four parts: 1) evaluation of etiology, 2) assessment of remodeling, 3) evaluation for an implantable cardioverter-defibrillator (ICD), and 4) detection of the pre-DCM phenotype. […] Evaluation of Etiology: DCM predominantly affects younger adults and is the most frequent indication for cardiac transplantation. DCM is best regarded not as a single disease entity, but rather as a nonspecific phenotype, the final common response of myocardium to a number of genetic and environmental insults. Therefore, before diagnosing DCM, it is necessary to exclude conditions with phenotypic overlap. […] Late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) provides an alternative approach to coronary angiography and may identify prior myocardial infarction (subendocardial or transmural LGE) in as many as 13% of patients with suspected DCM and unobstructed coronary arteries. […] CMR may aid etiologic evaluation through detection of myocardial edema (e.g., active myocarditis or sarcoidosis), and classification of LGE distribution (e.g., muscular dystrophy, previous myocarditis, sarcoidosis, or Chagas disease). Alongside CMR, 18F-fluorodeoxyglucose positron emission tomography is emerging as a valuable tool for diagnosing cardiac sarcoidosis and monitoring disease activity. […] CMR enables noninvasive detection of myocarditis through three combined tissue characterization techniques (Lake Louise criteria). It offers high diagnostic accuracy in acute myocarditis, but is less sensitive in chronic inflammatory disease. Endomyocardial biopsy (EMBx) remains the gold standard investigation, but given the current diagnostic yield and procedural risks of EMBx, it would appear difficult to justify its universal inclusion in the diagnostic workup of DCM. […] Routine genetic testing is only recommended in familial disease (2 affected family members), where its diagnostic yield is 30-35%. LMNA mutations are associated with high rates of conduction system disease, ventricular arrhythmias, and sudden cardiac death (SCD), and may consequently lower the threshold for prophylactic ICD implantation. DCM patients with a variant of the SCN5A gene exhibit a phenotype associated with significant arrhythmias and frequent premature ventricular complexes. Functional characterization of the mutation in vitro revealed an activating effect on the Nav1.5 sodium channel, predicted to cause rate-dependent ventricular ectopy. Although such patients responded poorly to conventional HF therapy, treatment with sodium channel blocking drugs produced a dramatic reduction in ectopy and normalization of left ventricular (LV) function.

• #21 Diagnosis | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/dilated-cardiomyopathy/diagnosis.html

  The clinic appointment is a multidisciplinary team visit that includes the doctor, a cardiovascular nurse or advanced practice provider, and a genetic counselor. It involves a detailed assessment of your symptoms, cardiac tests, and family history. If a genetic cause is suspected, we offer genetic testing and expert interpretation of the results. […] The process of diagnosing and treating dilated cardiomyopathy involves blood tests, imaging, and other tests. Our specialists provide expert interpretation using the latest technologies, many of which were developed or refined at Stanford. […] Genetic testing can help to both diagnose an inherited heart condition and guide clinical recommendations for at-risk family members.

• #22 Diagnosing Familial Dilated Cardiomyopathy | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/familial-dilated-cardiomyopathy/diagnosis.html

  Currently there is no available single genetic test that allows comprehensive testing of all genes that have been shown to cause dilated cardiomyopathy. Based on the clinical features of a familys or patients presentation of disease, our team will determine which genetic test, if any, is most appropriate. If a genetic test finds a mutation that is likely to cause disease, other members of your family can undergo greatly simplified testing for the initial mutation found. Our team of experts will explain to you and your family the full benefits and risks of genetic testing. Knowing the causative mutation allows for personalized screening in parents, siblings and other family members, early identification, and preventative treatment to halt or reverse the progression of disease. Additionally, in certain cases, treatments and risks of inheritance differ depending on the findings of genetic testing.

• #23 Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol from the British Society of Echocardiography

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5574280/

  The diagnostic criteria for DCM require exclusion of chronic pressure overload (such as hypertension and left ventricular outflow obstruction), chronic volume overload states (intra-cardiac shunts and valvular regurgitation) and ischaemic heart disease. […] Diagnostic criteria of LV dilatation (112% corrected to BSA and age) with reduced function (FS 25% and/or LVEF 45%) applies to idiopathic DCM once secondary causes (hypertension, coronary artery disease, excess alcohol consumption, tachycardia-induced cardiomyopathy, systemic or pericardial disease, cor pulmonale and congenital heart disease) have been excluded. […] The value of 117% is equivalent to 2 s.d. from the upper normal limit corrected to age and BSA plus 5%. […] For the purposes of this guideline, it is recommended that a value above 2 s.d.s for age, sex and BSA should be used in diagnosis, using linear and volumetric methods, whether 2D or 3D.

• #24 Dilated cardiomyopathy: a review of literature on clinical status and meta-analysis of diagnostic and clinical management

  https://www.oatext.com/dilated-cardiomyopathy-a-review-of-literature-on-clinical-status-and-meta-analysis-of-diagnostic-and-clinical-management.php

  A key implication is that diagnosis should consider all the potentially reversible underlying causes of LV dysfunction, which could be potentially reversed by the administration of specific therapeutic interventions. […] The World Health Organization (WHO) and International Society and Federation of Cardiologists (ISFC), and more recently the ESC working group on myocardial and pericardial diseases developed the criteria for DCM diagnosis as follows: (1) Fractional shortening 25% and/or LVEF 45%; (2) LV end-diastolic diameter 117% corrected for age and body surface area in the exclusion of any known cause of myocardial disease. […] However, from a pathology standpoint, the current diagnostic criteria of DCM have important limitations. […] The criteria establish DCM as a non-specific phenotype resulting from genetic, acquired (environmental), both genetic and acquired or idiopathic etiologies.

• #25 Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

  https://www.mdpi.com/2227-9059/11/3/834

  In the differential diagnosis of DCM, it is mandatory to exclude the most frequent causes of LV dysfunction, such as coronary artery disease and valvular disease, where LV dilatation can occur due to adverse remodelling. […] The exclusion of epicardial coronary artery stenosis is carried out using invasive coronary angiography, the gold standard, or by computerised tomography in patients not at high risk of atherosclerosis. […] The current ESC guidelines recommend ICD for primary prevention as a Class IIA indication in patients with non-ischaemic DCM, symptomatic HF, and LVEF ≤ 35% after three months of OMT. […] Therefore, incorporating LGE status into the criteria for primary-prevention ICD may allow for the selection of a subgroup of patients that have a higher arrhythmic risk (LGE positive) while sparing others who are without LGE the risk of complications from a device that is unlikely to improve their prognosis.

• #26 Dilated Cardiomyopathy (DCM) – Cardiomyopathies – Cardiovascular Diseases – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.2.16.1.

  Differential Diagnosis […] Coronary artery disease leading to LV dysfunction is the most important differential diagnosis. Coronary evaluation should be considered in most adults with DCM. DCM should also be differentiated from cardiomyopathy secondary to valvular disease or prolonged hypertension.

• #27 Diagnosis and Evaluation of Dilated Cardiomyopathy

  https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2016/07/07/19/35/the-diagnosis-and-evaluation-of-dilated-cardiomyopathy

  Evaluation for an ICD: LGE-CMR could help to optimize ICD deployment, by identifying patients with high remodeling potential who may warrant lengthier periods of treatment before ICD decision making. The same principle extends to DCM patients with reversible causes such as alcohol-related, peripartum, or acute inflammatory cardiomyopathy. The risk of SCD during the deferment period could possibly be ameliorated by wearable cardioverter-defibrillators. […] Myocardial fibrosis identified by LGE-CMR is an independent predictor of SCD risk and all-cause mortality, providing prognostic information that is incremental to LVEF. The absence of midwall LGE identifies a population of DCM patients at low risk of SCD, even when LVEF is 35%. The combination of LGE-CMR with biomarker analysis may offer even greater discriminatory power, identifying an ultra-low risk of arrhythmic outcomes (e.g., 1-3%/year) among DCM patients who meet current criteria for ICD implantation.

• #28 Diagnosis and Evaluation of Dilated Cardiomyopathy

  https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2016/07/07/19/35/the-diagnosis-and-evaluation-of-dilated-cardiomyopathy

  Assessment of Remodeling: Although CMR is the gold standard for ventricular assessment, its routine use is limited by restricted availability, expense, and device incompatibility. Myocardial deformation imaging techniques (e.g., speckle-tracking echocardiography-derived strain or CMR myocardial tagging) offer greater sensitivity than LV ejection fraction (LVEF) for identifying subtle abnormalities of systolic function, and may assume a role in the early detection of disease. […] Replacement myocardial fibrosis occurs typically in the mid-wall in approximately one-third of patients with advanced DCM, and is detectable by LGE-CMR. It provides a substrate for ventricular re-entrant arrhythmia and is independently associated with an increased risk of mortality and HF morbidity in DCM. The presence of replacement fibrosis and extent in DCM hearts, as assessed by LGE-CMR, substantially determines the likelihood of LV reverse remodeling in response to pharmacological therapy and cardiac resynchronization therapy. […] Dyssynchrony evaluation by echocardiography currently has no role in patients with left bundle branch block and QRS interval duration 150 ms or those with narrow QRS intervals.

• #29 Diagnosis and Evaluation of Dilated Cardiomyopathy

  https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2016/07/07/19/35/the-diagnosis-and-evaluation-of-dilated-cardiomyopathy

  Detection of the Pre-DCM Phenotype: Genetic counseling in facilitating informed decisions regarding testing and supporting patients following results is important due to limitations of predictive genetic testing including the attendant psychological burden, the inability to predict time and severity of disease onset, and the lack of available therapies to avert disease development. […] Myocardial deformation imaging may provide phenotypic markers of latent DCM earlier than LV enlargement. Among relatives of patients with DCM caused by sarcomeric gene mutation, mutation carriers exhibited substantially reduced strain and strain rate compared with noncarriers, despite all having normal LV size and LVEF. […] In patients receiving potentially cardiotoxic cancer therapy, reductions in global longitudinal strain 10% consistently precede and predict the development of overt LV dysfunction. Subclinical detection in these patients is crucial because timely intervention (e.g., change in chemotherapy regimen) may prevent disease progression, whereas systolic dysfunction is often irreversible once LVEF declines. […] LGE-CMR can detect myocardial replacement fibrosis prior to overt LV remodeling in patients with laminopathy or Beckers muscular dystrophy. However, the assessment of diffuse interstitial fibrosis by emerging T1 mapping methods may allow differentiation of diseased from healthy myocardium, even in the absence of LGE, and holds considerable promise for early DCM diagnosis. […] Serum protein biomarkers can deliver insights into multiple facets of cardiac remodeling, including myocyte death, extracellular matrix remodeling, ventricular stretch, and oxidative stress, and may therefore play an adjunctive role in uncovering latent disease. For example, high-sensitivity cardiac troponin assays provide a potential avenue for the detection of low-grade, subclinical myocardial injury among cancer patients receiving cardiotoxic chemotherapy, elevations in serum troponin strongly predict subsequent LV dysfunction.

• #30 Dilated Cardiomyopathy (DCM) | American Heart Association

  https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/dilated-cardiomyopathy-dcm

  Infants and young children with DCM may be misdiagnosed with a viral upper respiratory tract infection or recurrent pneumonia without realizing a heart problem is the underlying cause for their symptoms. Older children and adolescents are more likely to have abdominal pain, decreased exercise capacity or increased fatigue. In many children with DCM, chronic coughing and wheezing during activity may be mistaken for asthma. […] Many children with DCM can lead relatively normal lives once a diagnosis has been confirmed and appropriate treatments are started. However, a diagnosis of DCM does affect several areas of a child’s life. Specific recommendations should be developed by the child’s health care team.

• #31 Nonischemic Dilated Cardiomyopathy: Diagnosis and Management | Thoracic Key

  https://thoracickey.com/nonischemic-dilated-cardiomyopathy-diagnosis-and-management/

  In patients with nonischemic DCM, overall mortality is associated with left ventricular dysfunction, but only a few studies have investigated the relationship between left ventricular function and SCD directly. The combination of severely reduced left ventricular function (left ventricular ejection fraction [LVEF] 30%) and nonsustained VT was used to identify the highest-risk subgroup. Since reduced LVEF was an inclusion criterion in all ICD prophylaxis trials, it is a prominent feature of guidelines for ICD therapy and a cornerstone in daily clinical practice. Nevertheless, the majority of SCDs occur in patients with less severely reduced left ventricular function, which highlights the limited sensitivity of this parameter. […] […] In patients with nonischemic DCM, the presence of left bundle branch block (LBBB) has been associated with a worse outcome. The Vesnarinone Trial (VEST) and other studies confirmed a significant association between the degree of QRS duration and mortality. However, other studies were not able to demonstrate a significant association between intraventricular conduction delay and SCD. The Defibrillators in Nonischemic Cardiomyopathy (DEFINITE) trial was not able to show an association between QRS duration and all-cause mortality. The Sudden Cardiac DeathHeart Failure Trial (SCD-HeFT), which enrolled patients with ischemic cardiomyopathy and those with nonischemic cardiomyopathy, reported that ICD therapy yielded a greater mortality reduction in patients with QRS duration 0.12 seconds, but specific information on the relationship between QRS duration and mortality reduction in patients with nonischemic cardiomyopathy has not been presented. […]

• #32 Diagnosing Familial Dilated Cardiomyopathy | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/familial-dilated-cardiomyopathy/diagnosis.html

  Dilated cardiomyopathy is often due to an underlying genetic change. This has important implications for a patients siblings, children, and parents. Additionally, in some cases, other organ systems may be affected due to the same genetic change. […] Clinical testing includes echocardiography (ultrasound pictures of the heart), ambulatory telemetry (monitoring the rhythms of the heart, typically at home over 24 hours or more), cardiopulmonary exercise testing (treadmill or bike test to measure exercise capacity), blood tests, and other tests. […] All first-degree family members (sons, daughters, brothers, sisters, parents) of a patient with familial dilated cardiomyopathy should undergo screening for dilated cardiomyopathy with echocardiography and electrocardiogram. Other family members may undergo screening if their first-degree relatives are found to have disease or have high risk occupations or activities such as competitive sports. If genetic testing is performed and a mutation is found, all family members who have the mutation are recommended to undergo a comprehensive clinical assessment. All individuals with symptoms of dilated cardiomyopathy should undergo clinical evaluation.

• #33 Dilated Cardiomyopathy Genetic Testing

  https://dcmfoundation.org/about-dilated-cardiomyopathy/dilated-cardiomyopathy-and-genetics/

  There are many causes for the development of DCM, including coronary artery disease and other conditions such as infections. Close to 50% of the time, the cause of DCM is unknown; this is referred to as idiopathic. […] Genetic research has shown that 20 to 30% of individuals with DCM may have another affected family member, which is called familial DCM (FDC). […] In most cases (90% of the time), FDC appears to be inherited as an autosomal dominant trait. […] Research shows that even when only one person in the family has DCM, the condition can still be genetic. […] The clinical features of DCM resulting from mutations in different genes, in most cases, have considerable overlap with one another, even though more than 70 genes have been suggested to cause genetic DCM. […] The 2022 American College of Cardiology/American Heart Association/Heart Failure Society of America Practice Guideline for the Management of Heart Failure states that persons with DCM not caused by coronary artery disease/heart attack should be genetically tested and counseled.

• #34 Dilated Cardiomyopathy (DCM) | Pediatric Cardiomyopathy

  https://www.cincinnatichildrens.org/service/c/cardiomyopathy/types/dilated-cardiomyopathy

  Diagnosis of DCM is based on cardiac testing, family history, medical history, and a physical exam. […] Cardiac testing: An echocardiogram is the most common test used to diagnose DCM, as the dilation of the ventricle and overall squeeze of the heart can be measured with this test. Other tests may include blood tests, electrocardiogram (EKG), exercise stress echo test, cardiac catheterization and magnetic resonance imaging (MRI). […] Family history: A family tree should be constructed with specific attention to a history of cardiomyopathy, rhythm problems, sudden cardiac or unexplained death, cardiac surgery or presence of other cardiac disease in relatives. […] Medical history: A history of heart failure symptoms including feeding issues, heart rhythm problems, and exercise intolerance.

• #35 Dilated Cardiomyopathy (DCM) | Pediatric Cardiomyopathy

  https://www.cincinnatichildrens.org/service/c/cardiomyopathy/types/dilated-cardiomyopathy

  Physical exam: A thorough physical exam will be done to evaluate for signs of a cardiac problem. Assessment of skeletal muscle strength will be performed since problems with skeletal muscle may occur with cardiac muscle disease. […] Occasionally, a myocardial biopsy may be performed in the cardiac catheterization laboratory to help determine the cause of the cardiomyopathy. A tiny instrument will be inserted into the heart via a vessel in the leg and a tissue sample will be taken from the heart, examined under a microscope and tested for viruses to help to determine the cause of the cardiomyopathy.

• #36 The diagnostic work up of genetic and inflammatory dilated cardiomyopathy

  https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-13/The-diagnostic-work-up-of-genetic-and-inflammatory-dilated-cardiomyopathy

  The role of genetic testing in cardiomyopathies has previously been underlined by the American and European Societies. […] Genetic evaluation in DCM is also recommended. […] Appropriate examinations such as echocardiographic studies of family members, genetic studies, and histopathological/immunochemistry/molecular biology studies of cardiac samples should be performed to differentiate between two main causes of idiopathic DCM such as genetic and inflammation/autoimmunisation. […] A simplified three-staged diagnostic pathway has been proposed. […] In specialised cardiomyopathy centers, sophisticated in-depth diagnosis of genetic and inflammatory causes of DCM are slowly becoming a reality.

• #37 Dilated cardiomyopathy | Nature Reviews Disease Primers

  https://www.nature.com/articles/s41572-019-0084-1

  Dilated cardiomyopathy (DCM) is a clinical diagnosis characterized by left ventricular or biventricular dilation and impaired contraction that is not explained by abnormal loading conditions (for example, hypertension and valvular heart disease) or coronary artery disease. […] The heterogeneous aetiology and clinical presentation of DCM make a correct and timely diagnosis challenging. Echocardiography and other imaging techniques are required to assess ventricular dysfunction and adverse myocardial remodelling, and immunological and histological analyses of an endomyocardial biopsy sample are indicated when inflammation or infection is suspected. […] An improved aetiology-driven personalized approach to clinical care will benefit patients with DCM, as will new diagnostic tools, such as serum biomarkers, that enable early diagnosis and treatment.

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