Materiały źródłowe

• #1 Cardiomyopathy: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16841-cardiomyopathy

  Cardiomyopathy refers to conditions that affect your heart muscle. If you have cardiomyopathy, your heart cant efficiently pump blood to the rest of your body. […] Cardiomyopathy is a disease that affects your myocardium (heart muscle). Cardiomyopathy can make your heart stiffen, enlarge or thicken and can cause scar tissue. As a result, your heart cant pump blood effectively to the rest of your body. […] Your healthcare provider will ask about your medical history and that of your family. Theyll also do a physical exam. […] Tests to diagnose cardiomyopathy may include: Ambulatory monitoring, Blood tests, Chest X-ray, Cardiac CT, Heart MRI, Echocardiogram, Electrocardiogram (EKG), Exercise stress test, Cardiac catheterization, Myocardial biopsy. […] Cardiomyopathy treatments dont cure the condition. However, they can help you manage your symptoms and slow down the diseases progression. Your healthcare provider may recommend lifestyle changes, medications, devices or procedures.

• #2 Cardiomyopathy – Diagnosis | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/cardiomyopathy/diagnosis

  Your healthcare provider may screen you for cardiomyopathy if a close relative has this condition or has had another serious heart condition. Your healthcare provider will ask whether people in your family have died suddenly. […] Your provider may also notice signs of cardiomyopathy during a routine exam. If you have symptoms of heart weakness, your provider will order tests: […] Heart tests and procedures such as imaging tests, electrocardiograms, and stress tests check the size and shape of your heart and assess how well it is working. […] Blood tests check the levels of substances in your blood that change if you have cardiomyopathy or complications such as heart failure. […] Genetic testing can identify inherited types of cardiomyopathy. This is important if you or a blood relative has cardiomyopathy or another heart condition that runs in families.

• #3 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.

• #3 Cardiomyopathy – Diagnosis and treatment – Mayo Clinic

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

  This quick and painless test measures the electrical activity of the heart. […] These tests often involve walking on a treadmill or pedaling a stationary bike while the heart is monitored. The tests show how the heart reacts to exercise. […] A thin tube called a catheter is placed into the groin and threaded through blood vessels to the heart. […] This test also might involve removing a small tissue sample from the heart for a lab to check. That procedure is called a biopsy. […] This test uses magnetic fields and radio waves to make images of the heart. This test may be done if the images from an echocardiogram aren’t enough to confirm cardiomyopathy. […] A series of X-rays are used to create images of the heart and chest. The test shows the size of the heart and the heart valves. […] Cardiomyopathy can be passed down through families, also called inherited cardiomyopathy. Ask your healthcare professional if genetic testing is right for you. Family screening or genetic testing might include first-degree relatives parents, siblings and children.

• #4 Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis.

  https://www.escardio.org/Working-groups/Working-Group-on-Myocardial-and-Pericardial-Diseases/Publications/Paper-of-the-Month/Diagnostic-work-up-in-cardiomyopathies-bridging-the-gap-between-clinical-phenot

  In this position statement the authors propose a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic red flags that can be used to guide rational selection of specialized tests including genetic analysis. […] A major objective of pedigree analysis is the determination of the mode of genetic transmission. […] A key message is that the clinical assessment should not be restricted to cardiological examinations as the cardiomyopathies represent a challenging interface between cardiology and many other medical specialities. Another important aspect is the recognition of red flags that guide rational selection of further diagnostic tests including genetic analysis and thereby identify specific subtypes of cardiomyopathy. […] The manuscript succeeds in presenting a framework for the practicing clinician regarding the diagnostic evaluation of patients with cardiomyopathy.

• #4 Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis.

  https://www.escardio.org/Working-groups/Working-Group-on-Myocardial-and-Pericardial-Diseases/Publications/Paper-of-the-Month/Diagnostic-work-up-in-cardiomyopathies-bridging-the-gap-between-clinical-phenot

  Genetic analysis is significant part of the diagnostic process and essential element for the genetic family screening. […] The basic premise, as this Special Article underlines, is that the adoption of a cardiomyopathy specific mindset that combines conventional cardiological assessment with non-cardiac and molecular parameters increases diagnostic accuracy and improves advice and treatment for patients and families.

• #5 Symptoms and Diagnosis of Cardiomyopathy | American Stroke Association

  https://www.stroke.org/en/health-topics/cardiomyopathy/symptoms-and-diagnosis-of-cardiomyopathy

  Using a stethoscope, your health care professional will listen to your heart and lungs for sounds that may suggest cardiomyopathy. Particular sounds may even suggest a certain type of the disease. […] Certain physical signs also help your doctor diagnose cardiomyopathy. Swelling of the ankles, feet, legs, abdomen or veins in your neck suggests fluid buildup, a sign of heart failure. […] One or more of the following tests may be recommended to diagnose cardiomyopathy: […] Blood tests: A small amount of blood is usually drawn from a vein in your arm using a needle. […] Chest X-ray: A chest X-ray takes pictures of the organs and structures inside your chest. It can show whether your heart is enlarged or if fluid is building up in your lungs. […] Electrocardiogram (EKG or ECG): An EKG records the heart’s electrical activity, showing how fast the heart is beating and whether its rhythm is steady or irregular. An EKG may reveal changes from cardiomyopathy as well as other problems, including heart attacks, arrhythmias (abnormal heartbeats) and heart failure.

• #5 Symptoms and Diagnosis of Cardiomyopathy | American Stroke Association

  https://www.stroke.org/en/health-topics/cardiomyopathy/symptoms-and-diagnosis-of-cardiomyopathy

  Holter and event monitors: Both are portable devices that record your heart’s electrical activity during your normal daily activities. A Holter monitor records the heart’s electrical activity for a 24- or 48-hour period. An event monitor records your heart’s electrical activity only at certain times. You may have to wear this portable monitor to diagnose heart problems that come and go. […] Echocardiogram (Echo): An echocardiogram is a test that uses sound waves to create a moving picture of your heart. It shows how well your heart is working as well as its size and shape. […] The aim of a stress test is to make your heart work hard (and beat fast) while tests are performed. […] Confirming a diagnosis may involve one or more medical procedures. […] Cardiac catheterization: Cardiac catheterization checks the pressure and blood flow in your heart’s chambers.

• #6 Hypertrophic Cardiomyopathy (HCM) | American Heart Association

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

  Hypertrophic cardiomyopathy is often inherited and is a common form of genetic heart disease. It can happen at any age, but most receive a diagnosis in middle age. […] HCM is diagnosed based on your medical history, family history, a physical exam and diagnostic test results. […] Diagnosis is typically done by echocardiogram. It checks the function and thickness of the heart muscle and how the blood flows through the heart. […] A cardiologist or pediatric cardiologist often diagnoses and treats HCM. You may also be referred to a cardiomyopathy center where the health care team has specialized training. […] Knowing your medical history and any signs and symptoms you may have is an important first step. […] Your health care professional will listen to your heart and lungs with a stethoscope. If they hear a swishing or whooshing sound called a murmur, that could mean there is problem with blood flow through the heart which may suggest HCM.

• #7 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).

• #8 Heart Disease: Tests and Diagnosis

  https://www.healthline.com/health/heart-disease/tests-diagnosis

  Heart disease is any condition that affects your heart, such as coronary artery disease and arrhythmia. There are many tests that a doctor may use to diagnose your heart condition. […] To diagnose heart disease, your doctor will perform a series of tests and evaluations. They may also use some of these tests to screen you for heart disease before you develop noticeable symptoms. […] Your doctor may also order blood tests. For example, cholesterol tests measure the levels of fat and cholesterol in your bloodstream. Your doctor can use these tests to help determine your risk of heart disease and heart attack. […] Your doctor may also order C-reactive protein (CRP) tests to check your body for signs of inflammation. They can use the results of your CRP and cholesterol tests to assess your risk of heart disease.

• #9 Diagnosing Cardiomyopathy & Heart Failure | NYU Langone Health

  https://nyulangone.org/conditions/cardiomyopathy-heart-failure/diagnosis

  A transthoracic echocardiogram is an ultrasound test that uses sound waves to produce detailed images of the heart, enabling your doctor to evaluate the hearts ability to pump bloodcalled its ejection fractionand to identify any abnormalities in the size or shape of the heart. […] In coronary catheterization and angiogram, your doctor uses X-ray images taken in real time to create cross-sectional images of the heart. […] MRI uses a magnetic field and radio waves to produce computerized, three-dimensional pictures of the heart to assess the organs structure and function.

• #10 Echocardiography in the Diagnosis of Cardiomyopathies: Current Status and Future Directions

  https://www.imrpress.com/journal/RCM/23/8/10.31083/j.rcm2308280/htm

  Echocardiography is the main diagnosis and monitoring technique for various types of heart diseases. It has a favorable cost-efficiency ratio, low risk, allows follow-up, and offers increasingly more accurate information due to continuous development in terms of technique, imaging methods, and pharmacology-associated assessment. […] Echocardiography is the first-line diagnostic method for differential diagnosis in HCM, to identify LV hypertrophy from secondary causes. Severe hypertrophy is diagnosed when the LV mass is above 130 g/m2 for men and >112 g/m2 for women, a common finding in primary hypertrophy due to HCM. […] Echocardiography is recognized as a first-line diagnostic method in almost all cardiac diseases. When dealing with a patient with cardiomyopathy, echocardiography is a mandatory tool for both positive or differential diagnostic and follow-up.

• #11 Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/02/25/06/34/Diagnosis-of-Hypertrophic-Cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is the most common inherited monogenic cardiac disorder, affecting 0.2-0.5% of the population. In the United States, 750,000 people are estimated to have HCM; however, only approximately 100,000 people have been diagnosed, signifying a large gap in the recognition and understanding of this disease. As diagnostic and therapeutic paradigms for HCM continue to evolve, cardiovascular clinicians will need to become familiar with the diagnosis of this condition. […] The diagnosis of HCM is confirmed with the presence of a left ventricular wall thickness of 15 mm that is otherwise unexplained by abnormal loading conditions (e.g., hypertension, valvular, congenital disease) or infiltrative cardiomyopathies. Unexplained left ventricular wall thickness of 13 mm is sufficient for diagnosis in relatives of individuals with HCM or those who are genotype positive.

• #11 Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/02/25/06/34/Diagnosis-of-Hypertrophic-Cardiomyopathy

  Cardiac magnetic resonance imaging (MRI) provides superior morphologic and tissue characterization and volumetric assessment compared with echocardiography. Cardiac MRI is recommended in: 1) patients for whom echocardiography is inconclusive for making the diagnosis of HCM; and 2) patients with known HCM for whom additional information regarding magnitude and distribution of hypertrophy or anatomy of the mitral valve apparatus would be helpful in decision making regarding septal reduction therapy. […] Genetic testing is also reasonable to facilitate identification of first-degree family members at risk for developing HCM. If a genetic variant causal for HCM is identified in the proband and affected relatives, relatives who do not carry the familial variant can be dismissed from ongoing clinical screening. If genetic testing is not performed or if a causal variant is not identified in the proband, ongoing periodic clinical surveillance of relatives with electrocardiography and echocardiography every 3-5 years is recommended.

• #12 Diagnosis and Evaluation of Hypertrophic Cardiomyopathy

  https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2022/01/24/20/39/Diagnosis-and-Evaluation-of-HCM

  Diagnosis of HCM relies on echocardiogram and cardiac MRI showing hypertrophied left ventricle (LV) without dilatation in the absence of other metabolic or systemic disease causing hypertrophy such as hypertension or valvular disease. In adults, diagnosis of HCM is based on a maximum LV thickness of 15 mm at any site. In young children, HCM diagnosis relies on LV thickness of 13 mm. […] Initial assessment of a patient with HCM should include asking about symptoms of syncope, heart failure, chest pain, palpitations, and family history of HCM and sudden cardiac death (SCD). Initial evaluation should also ideally include an electrocardiogram (ECG), echocardiogram, ambulatory ECG monitoring, cardiac magnetic resonance imaging (MRI), and genetic testing. […] Routine clinical evaluation is recommended annually and should usually include an ECG, echocardiogram, and ambulatory ECG monitor. Follow-up may be more frequent in the pediatric population.

• #12 Diagnosis and Evaluation of Hypertrophic Cardiomyopathy

  https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2022/01/24/20/39/Diagnosis-and-Evaluation-of-HCM

  Cardiac MRI provides complementary information with an echocardiogram but can be of advantage when echocardiographic pictures are suboptimal. In addition, it provides more precise estimates of LV thickness, assessment of LV segments that may not be ideally visible on an echo such as apex, and identifies scar burden helping with risk stratification for SCD. The expert panel strongly recommends cardiac MRI with contrast as a component of HCM evaluation. […] Genetic testing for HCM is helpful for screening of family members and in identifying HCM phenocopies (Fabrys, amyloidosis, or Danon), but is not a prognostic tool. Approximately 30% of patients with HCM have evidence of a genetic etiology with a pathogenic disease-causing mutation. All HCM patients should have genetic counseling relevant to the disease, but genetic testing should not be performed in families unless a pathogenic mutation has been identified. […] For clinical screening of first-degree family members of patients with HCM, diagnostic imaging usually begins at 12 years of age continuing annually until age 18-21 years. Screening can be extended to every 5 years in adulthood. Imaging should be obtained if the ECG is abnormal.

• #13 The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance | Journal of Cardiovascular Magnetic Resonance | Full Text

  https://jcmr-online.biomedcentral.com/articles/10.1186/1532-429X-14-17

  The diagnosis of HCM was historically made by pathologists only at the untimely death of an individual. […] Advances in cardiovascular imaging and genetics have facilitated improved diagnosis allowing for deployment of interventions such as intracardiac defibrillators that can favorably alter the natural history of the disease in high risk patients. […] The key histologic feature of HCM is myocyte and myofibrillar disarray. […] Myocardial fibrosis or scaring detected by CMR occurs in up to 33-86% of patients with HCM. […] The prognostic significance of the presence of LGE in HCM to adverse outcome is high. […] CMR provides better diagnostic accuracy than echocardiography in definition of the ventricular size, magnitude and distribution of hypertrophy, especially in identification of the anterolateral wall of LV.

• #14 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  HCM is evaluated and monitored with regular ECG, echocardiography, and prolonged cardiac monitoring. […] ECG results are abnormal in up to 95% of patients with HCM. […] Imaging with echocardiography or cardiovascular magnetic resonance imaging is the key to diagnosing HCM. In adults, HCM is diagnosed when maximal left ventricular end-diastolic wall thickness exceeds 15 mm at any point. […] Evaluation is aimed at detecting the abnormalities associated with HCM including dynamic left ventricular outflow tract obstruction (LVOTO), mitral regurgitation, diastolic dysfunction, myocardial ischemia, arrhythmias, and autonomic dysfunction. […] Genetic variants are found in only 30% to 60% of patients with HCM. […] HCM can also present with symptoms associated with exertion, including chest pain, dyspnea, palpitations, or syncope.

• #14 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  HCM is often incidentally detected after finding a heart murmur or abnormal results on ECG. […] All patients with HCM should be managed in conjunction with a center specializing in HCM; such centers have better outcomes. […] In symptomatic patients, beta blockade is used to reduce the resting heart rate and LVOTO to treat symptoms. […] Patients who continue to have symptoms despite beta blockers or calcium channel blockers are candidates for disopyramide (Norpace), an antidysrhythmic agent, or septal reduction therapy. […] Implantable cardiac defibrillators reduce sudden cardiac death in those at increased risk. […] Moderate intensity exercise is safe and recommended in patients with stable HCM. […] The most important change may be the new recommendations for moderate exercise and occupational certification for driving and flying.

• #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 Cardiomyopathy: Symptoms, Causes, and Treatment

  https://www.webmd.com/heart-disease/muscle-cardiomyopathy

  Echocardiogram. This test uses sound waves to create images of your heart that show your doctor how well blood is flowing through it. […] Exercise stress test. Your doctor monitors your heart as you walk on a treadmill or ride a stationary bike to see how exercise affects it. If you’re unable to exercise, they can give you a drug to boost your heart rate like exercise does. […] Ambulatory monitoring. You’ll wear a portable device that tracks the electrical activity of your heart as you go about your day. A Holter monitor records this information all day for 1 or 2 days. An event monitor only checks your heart activity at certain times. […] Cardiac CT scan. This test uses a series of X-rays taken from different angles to provide a comprehensive view of your heart. […] Cardiac MRI. Radio waves and magnetic fields are used to create a two- or three-dimensional view of your heart.

• #17 Cardiomyopathy: Symptoms, diagnosis and treatment – Harvard Health

  https://www.health.harvard.edu/cardiomyopathy-symptoms-diagnosis-and-treatment

  In diagnosing cardiomyopathy, the diagnosis is often clear from an individual’s descriptions of his or her symptoms, the results of a physical examination, and the results of a chest x-ray, echocardiogram, and electrocardiogram. […] Occasionally, a test called an endomyocardial biopsy is necessary. In this test, a catheter is inserted into a vein in the neck and passed down into the heart. A small piece of the inner heart wall is removed using a tiny metal device at the tip of the catheter. The sample of heart tissue is then examined under the microscope.

• #18 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). […] 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.

• #19 Viral Cardiomyopathy: A Review of Clinical Status and Meta-Analysis of Diagnosis and Clinical Management

  https://www.oatext.com/viral-cardiomyopathy-a-review-of-clinical-status-and-meta-analysis-of-diagnosis-and-clinical-management.php

  From an aetiological standpoint, viral cardiomyopathy represents an uncommon subtype of non-inflammatory dilated cardiomyopathy. […] Clinical diagnosis requires the presence of electrocardiographic abnormalities, markers of myocardial necrosis or evidence of functional/structural ventricular abnormalities accompanied by at least one physical sign or clinical symptom. […] However, endomyocardial biopsy remains the reference standard but increased risks of complications and the need for highly experienced operators limits its widespread use. […] This paper provides a review of available published evidence and expert consensus on virus aetiologies of CM including the role of aetiologies in the diagnosis and treatment of viral CM. […] The 2006 AHA scientific statement on contemporary definitions and classification of the cardiomyopathies defines CM 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.

• #20

  https://link.springer.com/article/10.1007/s00508-024-02442-1

  In a patient with an HCM phenotype, a systematic diagnostic work-up is required to confirm sarcomeric HCM and to rule out HCM phenocopies as depicted in Fig. 1. […] The diagnosis of HCM is confirmed if a disease-causing mutation in a sarcomeric gene is identified. If genetic testing is inconclusive, HCM phenocopies must be ruled out to confirm the diagnosis of HCM. […] A 12-lead ECG is mandatory in every patient with suspected HCM during initial evaluation and routine follow-up, and in relatives of HCM patients during family screening. […] The use of TTE is mandatory in any patient with suspected HCM. […] The presence of SAM should prompt thorough assessment of LVOTO including provocative maneuvers as shown in Fig. 3. […] The multiparametric approach to CMRI provides a comprehensive characterization of cardiac morphology, function and myocardial tissue in the HCM phenotype, fusing spatial, contrast and temporal resolution.

• #20

  https://link.springer.com/article/10.1007/s00508-024-02442-1

  CMRI is the key for differentiating HCM from HCM phenocopies that are clinical conditions with similar morphology but different underlying etiology, such as amyloid or Anderson-Fabry disease. […] The LVOTO is dynamic and dependent on ventricular load and myocardial contractility. […] Evaluation of the SCD risk is a key issue in the management of patients with HCM. […] The primary prophylactic implantation of an ICD is recommended with a class IIa indication based on shared decision making. […] The 5-year risk of SCD should be assessed at the initial evaluation and at follow-up visits conducted in 12-year intervals or at any change in clinical status.

• #21 Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Diagnosis, Clinical Course and Therapy | IntechOpen

  https://www.intechopen.com/chapters/75983

  No evidence-based treatments are available for non-hypertrophic HCM patients (pre-hypertrophic stage), on the other hand in classic HCM, adverse remodeling and overt dysfunction phenotype, pharmacological or interventional strategies have the target to improve functional capacity, reduce symptoms, prevent disease progression. […] SCD risk estimation is an integral part of clinical management of HCM. International guidelines suggest the evaluation of several risk factor for SCD based on personal and family history, non-invasive testing including echocardiography, ambulatory electrocardiographic 24 hours monitoring and CMR imaging in order to identity those patients most likely to benefit implantable cardioverter-defibrillator (ICD) implantation.

• #22 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.

• #23 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

  Dilated cardiomyopathy (DCM) is a progressive ventricular wall thinning and dilatation accompanied with gradual functional impairment. […] Numerous conditions and diseases leading to DCM can be treated effectively however the diagnostic pathway is difficult and requires comprehensive knowledge as well as access to sophisticated diagnostic methods, such as cardiac magnetic resonance, endomyocardial biopsy and genetic testing. […] To structure and simplify DCM patient flow, a three-staged diagnostic pathway is proposed. […] The phenotype of DCM is established by means of imaging studies echocardiography being the most common. […] In a majority of patients, dilated cardiomyopathy involves the inflammatory process and genetics however the causes are usually largely unknown. […] The etiology of DCM is heterogeneous.

• #23 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 presence of CAD and MI of course exclude the diagnosis of cardiomyopathy. […] Once these causes of DCM have been excluded, the etiology of DCM can be either genetic (familial) or non-genetic. […] Further diagnostic steps are based on endomyocardial biopsy and state-of-the-art bioptates assessment as well as genetic studies. […] The genetic nature of DCM is increasingly recognised. […] 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.

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

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

  Initial laboratory testing should always include a complete blood count, renal function, liver function tests, urine analysis for proteinuria, creatine kinase (CK), serum iron, ferritin, calcium, phosphate, natriuretic peptides, and thyroid-stimulating hormone. […] Imaging is crucial for diagnosing DCM, risk stratification, management, and treatment monitoring. Echocardiography should be the first imaging method performed, as it provides information on chamber dimensions and morphology, systolic and diastolic function, the severity of valve disease, and non-invasive hemodynamic assessment in a broadly available, non-invasive, and cost-effective manner. […] Cardiac magnetic resonance (CMR) is the gold standard technique for quantifying volumes and LVEF, with better accuracy and reproducibility than echocardiography.

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

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

  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. […] The present review proposes a comprehensive and systematic approach to evaluating DCM, focusing on an improved diagnostic pathway and an up-to-date structured stratification of arrhythmic risk that incorporates novel imaging modalities and genetic test results.

• #25 Cardiomyopathy Imaging – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541056/

  Diagnosis of restrictive cardiomyopathy by echocardiogram is more difficult than the diagnosis of hypertrophic and dilated cardiomyopathies. The left ventricle usually is usually normal in size or small and associated with a normal left ventricular systolic function. These patients usually have an abnormal diastolic function with biatrial enlargement. […] CMR is essential in the diagnosis of restrictive cardiomyopathy and the differential diagnosis of etiology of this type of cardiomyopathies; it helps to differentiate the restrictive cardiomyopathy from the constrictive pericarditis. Features of cardiac amyloidosis on CMR are concentric hypertrophy, increased septal thickness, atrial dilation bilaterally, and normal or impaired contractility. […] Diagnosis of cardiomyopathy requires multiple diagnostic tests. Imaging tests play a primary role in the workup. Echocardiogram remains the first test to order; it helps in establishing the diagnosis and provides an easy and cheap tool for routine follow up on disease progression and response to treatment. Cardiac MR provides an excellent evaluation of the myocardial function and is considered to be the definitive imaging test to diagnose hypertrophic and infiltrative diseases of the myocardium. It is useful for predicting prognosis in multiple types of cardiomyopathy.

• #26 Restrictive Cardiomyopathy: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/348745-overview

  Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium and is the least common of the three clinically recognized and described cardiomyopathies. It is characterized by diastolic dysfunction with restrictive ventricular physiology, whereas systolic function often remains normal. Atrial enlargement occurs due to impaired ventricular filling during diastole, but the volume and wall thickness of the ventricles are usually normal. RCM accounts for approximately 5% of all cases of diagnosed cardiomyopathies. […] Establishing the diagnosis of RCM and excluding constrictive pericarditis are imperative. The workup in a patient with suspected restrictive cardiomyopathy may include the following: Complete blood cell (CBC) count, Blood gas analysis, Serum electrolyte, blood urea nitrogen (BUN), and creatinine levels, Liver function profile, Serum iron concentrations and other possible indicators of hemochromatosis, Serum brain natriuretic peptide (BNP) levels, Radiography, Angiography, Echocardiography, Cardiac catheterization, Electrocardiography, Radionuclide imaging, Cardiovascular magnetic resonance imaging (CMRI), Computed tomography (CT) scanning to exclude diagnosis of restriction, Ventricular biopsy, Liver biopsy for diagnosis of hemochromatosis. […] RCM has no specific treatment. However, therapies directed at individual causes of RCM have been proven to be effective.

• #27 Amyloid heart disease module 1: diagnosis

  https://bjcardio.co.uk/2021/04/amyloid-heart-disease-module-1-diagnosis/

  Cardiac amyloidosis (CA) is a disorder of protein misfolding with resultant accumulation within the myocardium ultimately leading to clinical heart failure. […] Despite this knowledge, ATTR-CA remains a widely underdiagnosed cause of heart failure, and there are frequently delays to achieving the accurate diagnosis. Prompt recognition and early diagnosis of ATTR-CA is critical to decreasing morbidity and mortality, particularly as disease-modifying therapies emerge in the treatment of ATTR-CA. […] Although recognition of ATTR-CA as a cause of heart failure has increased, reaching an accurate diagnosis remains elusive and the physician must maintain a high index of clinical suspicion in whom to consider further evaluation for ATTR-CA. […] The echocardiogram remains the cornerstone screening test, often resulting in a heightened suspicion for an underlying infiltrative cardiomyopathy.

• #28 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.

• #28 Diagnosis | Stanford Health Care

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

  Dilated cardiomyopathy (DCM) is the most common form of heart muscle disease. It occurs when the lower chambers of the heart, called ventricles, enlarge over time and pump blood less efficiently. When caught early, dilated cardiomyopathy is usually treatable. If untreated, it can lead to life-threatening heart rhythm abnormalities and heart failure. […] Our cardiomyopathy team takes a personalized approach to diagnosing and treating dilated cardiomyopathy. We use the most up-to-date tests to tailor your treatment and monitor your heart over time. […] Our medical providers have the experience and expertise to assess whether your dilated cardiomyopathy is more likely to be acquired or to have a genetic cause. They provide a comprehensive evaluation that starts with a phone call with one of our advanced practice nurses who specializes in inherited cardiomyopathy. This call allows them to collect your health and family history and to make a personalized plan for the tests and records that will be needed for your appointment.

• #29 Diagnosis and management of dilated cardiomyopathy | Heart

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

  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.

• #30 Viral myocarditis—diagnosis, treatment options, and current controversies | Nature Reviews Cardiology

  https://www.nature.com/articles/nrcardio.2015.108

  Myocarditis is a frequent cause of dilated cardiomyopathy with heterogeneous clinical presentations and a wide range of clinical outcomes. […] Advances in our diagnostic capabilities using cardiac MRI as well as molecular detection of viruses by endomyocardial biopsy have improved our understanding and ability to characterize the disease. […] Characterization of this disease has been hampered by its heterogeneous clinical presentations and diverse aetiologies. Advances in cardiac MRI and molecular detection of viruses by endomyocardial biopsy have improved our ability to diagnose and understand the pathophysiological mechanisms of this elusive disease. […] As novel imaging techniques and human in vitro models of the disease emerge, the landscape of therapies for myocarditis is poised to improve.

• #31 Diabetic Cardiomyopathy—From Basics through Diagnosis to Treatment

  https://www.mdpi.com/2227-9059/12/4/765

  Specific biomarkers that can aid in diagnosis are still being investigated. […] In recent years, cardiac microRNAs (miRNAs) have emerged as crucial regulators in the development of DCM. […] A meta-analysis explored the potential diagnostic utility of three-dimensional echocardiography with speckle tracking in identifying DCM. […] The findings suggest that three-dimensional tracking echocardiography could be beneficial in diagnosing subclinical DCM, with particular emphasis on the sensitivity of 3D longitudinal strain as a marker for detecting subclinical left ventricular dysfunction in diabetic patients.

• #32 Understanding Cardiomyopathy: Epidemiology, Risk Factors, Types, Mechanisms, Diagnosis, Prevention, and Treatment | IntechOpen

  https://www.intechopen.com/chapters/1180971

  The treatment of DCM aims to slow disease development, control symptom loads, and improve overall survival. […] Diagnosis of hypertrophic cardiomyopathy is normally employed using an echocardiogram. […] RCM management is primarily focused on treating the underlying cause wherever possible. […] The goal of management and treatment of ARVC is to prevent and decrease the number of sudden deaths employing pharmacological agents, and other clinical procedures, such as surgical (cardiac transplant), catheter ablation (to treat incessant tachycardia), and placement of an implantable cardioverter-defibrillator (to prevent sudden cardiac death of the patient). […] Accurate diagnosis of cardiomyopathy hinges on a multidimensional approach. […] A comprehensive medical history, family history, and physical examination provide initial insights. Advanced imaging techniques, including echocardiography, cardiac MRI, and nuclear imaging, offer critical structural and functional data. Genetic testing plays a pivotal role in identifying familial cardiomyopathy forms.

• #33 Cardiomyopathy Diagnosis and Treatment | LifeMD

  https://lifemd.com/learn/cardiomyopathy-diagnosis-and-treatment

  Understanding your results involves a thorough approach, where your doctor looks at all test outcomes together. […] A critical aspect of this process involves assessing the heart’s function, specifically examining the size of the heart, the thickness of its muscle, and its pumping efficiency. […] These factors are essential for determining the type of cardiomyopathy you might have, such as dilated, hypertrophic, or restrictive cardiomyopathy. […] Then, the severity of your condition is carefully evaluated to determine the most suitable treatment plan. […] This evaluation is not just about diagnosing cardiomyopathy but also involves ruling out other potential causes of your symptoms to ensure an accurate medical assessment.

• #34 Early diagnosis key in cardiomyopathy – Clinical Advisor

  https://www.clinicaladvisor.com/features/early-diagnosis-key-in-cardiomyopathy/

  Early diagnosis key in cardiomyopathy. Routine testing helps identify the disease and lowers the risk of sudden death, but prompt referral to secondary and tertiary care is vital. Cardiomyopathy is defined as a myocardial disorder in which heart muscle is structurally and functionally abnormal without coronary artery disease, hypertension, valvular or congenital heart diseases. Cardiomyopathy is a significant cause of sudden death in the young. Therefore, primary-care providers (PCPs) play an important role both in aiding early diagnosis as well as raising awareness of these conditions in the community. It is important that cardiac symptoms in young patients are not underestimated, as this can lead to fatal delays in diagnosis.

• #35 Dilated Cardiomyopathy Diagnosis | DCM Patient Info

  https://dcmfoundation.org/about-dilated-cardiomyopathy/recently-diagnosed/

  DCM is diagnosed by clinical screening using: […] an electrocardiogram, or EKG, which records the electrical function of your heart […] an echocardiogram, or ECHO, which images your heart and estimates the pumping function or Ejection Fraction (EF). EF is a measurement, expressed as a percentage, of how much blood the left ventricle pumps out with each contraction. […] a history and physical, conducted by a physician or medical professional to ascertain relevant family and personal history as well as a physical examination. […] With appropriate medical intervention, treatment, and follow-up, prospects are very favorable for an extended life after your DCM diagnosis. […] Most essential to long-term survival is the skillful use of medical therapy, and devices (pacemakers, implantable defibrillators), when needed. […] The good news is that doctors now have several well-tested and highly effective medications to treat almost any type of DCM. […] However, without medical intervention, regular doctor visits and appropriate treatment, the prospects for long-term survival are pretty grim.

Zobacz więcej