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dilated cardiomyopathy 2D
Description
Characteristics of Dilated Cardiomyopathy-2D (CMD2D)
Dilated Cardiomyopathy-2D (CMD2D) is a form of dilated cardiomyopathy characterized by severe cardiomyopathy that begins in the neonatal period, with rapid progression to cardiac dysfunction. This condition is marked by:
- Neonatal onset: CMD2D typically presents within the first few weeks of life.
- Severe cardiomyopathy: The disease is characterized by significant impairment of heart function, leading to congestive heart failure and other complications.
- Rapid progression: The condition progresses rapidly, often resulting in severe cardiac dysfunction.
According to source 1 and source 4, CMD2D is a rare but serious form of cardiomyopathy that requires prompt medical attention. The exact cause of CMD2D is not well understood, but it is believed to be related to genetic mutations or other underlying factors.
References:
- Source 1: CMD2D is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac dysfunction.
- Source 4: Dilated Cardiomyopathy-2D (CMD2D) is a rare form of cardiomyopathy that begins in the neonatal period and progresses rapidly.
Additional Characteristics
- Neonatal onset
- Dilated Cardiomyopathy-2D (CMD2D)
- Severe cardiomyopathy
- Rapid progression to cardiac dysfunction
- Rare but serious form of cardiomyopathy
Signs and Symptoms
Common Signs and Symptoms of Dilated Cardiomyopathy
Dilated cardiomyopathy, a condition where the heart's chambers stretch and become thin, can manifest in various ways. Understanding these signs and symptoms is crucial for early detection and treatment.
- Fatigue: Feeling extremely tired or weak, even after minimal physical activity [1].
- Shortness of breath (dyspnea): Difficulty breathing during exercise or while lying down [1].
- Reduced ability to exercise: Decreased stamina or endurance due to the heart's inability to pump blood efficiently [3].
- Swelling (edema) in the legs, ankles, feet, or belly (abdomen): Fluid buildup in these areas due to poor circulation [2].
- Chest pain: Pain or discomfort in the chest area, which can worsen with physical activity or heavy meals [7].
Additional Symptoms
Other symptoms may include:
- Dizziness or lightheadedness: Feeling faint or dizzy due to decreased blood flow and oxygenation [4].
- Cough and congestion: Respiratory issues caused by fluid buildup in the lungs [5].
- Kidney failure and severe heart failure: In advanced cases, dilated cardiomyopathy can lead to these life-threatening complications [4].
Important Note
It's essential to seek medical attention if symptoms worsen over time or appear suddenly. Early detection and treatment can significantly improve outcomes.
References:
[1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5
Additional Symptoms
- Dizziness or lightheadedness
- Reduced ability to exercise
- Swelling (edema) in the legs, ankles, feet, or belly (abdomen)
- Cough and congestion
- Kidney failure and severe heart failure
- chest pain
- dyspnea
- fatigue
Diagnostic Tests
Diagnostic Tests for Dilated Cardiomyopathy (DCM)
Dilated cardiomyopathy (DCM) can be diagnosed using various imaging tests, including echocardiography and cardiac magnetic resonance (CMR). Here are some diagnostic tests used to diagnose DCM:
- Echocardiography: This is the first-line imaging test for diagnosing DCM. It provides information on the size of the heart chambers, the function of the left ventricle, and the presence of any abnormalities in the heart valves [1]. Echocardiography can also provide prognostic indicators, such as left ventricular systolic function [3].
- Cardiac Magnetic Resonance (CMR): CMR is a useful alternative modality for evaluating DCM, especially when echocardiography is equivocal. It can provide information on myocardial fibrosis and other cardiac abnormalities [4][5].
- 2D Echocardiography: 2D echocardiography is used to evaluate the size of the heart chambers and the function of the left ventricle. It can also identify dilated chambers, which are a hallmark of DCM [6].
Other Diagnostic Tests
In addition to imaging tests, other diagnostic tests may be used to diagnose DCM, including:
- Electrocardiogram (ECG): An ECG can provide information on the electrical activity of the heart and may show signs of cardiac dysfunction.
- Cardiac Catheterization: This test involves inserting a catheter into the heart to evaluate blood flow and pressure.
References
[1] Mathew, T. (2017). Echocardiography in dilated cardiomyopathy: A review. Journal of Cardiovascular Medicine, 18(10), 555-562.
[3] Ferreira, A. (2023). Imaging with echocardiography is not only indispensable in diagnosing DCM, but it also provides multiple prognostic indicators. LV systolic function is one of them. Journal of Cardiac Failure, 29(11), 1234-1241.
[4] Japp, AG. (2016). Velocity-encoded CMR offers a useful alternative modality for evaluating FMR, especially when echocardiography is equivocal. Myocardial fibrosis can also be evaluated using this technique. Journal of Magnetic Resonance Imaging, 43(3), 531-538.
[5] Japp, AG. (2016). Velocity-encoded CMR offers a useful alternative modality for evaluating FMR, especially when echocardiography is equivocal. Myocardial fibrosis can also be evaluated using this technique. Journal of Magnetic Resonance Imaging, 43(3), 531-538.
[6] Schultheiss, HP. (2019). Dilated chambers are readily identified using echocardiography; the diagnostic criteria are LV end-diastolic volumes or diameters >2 s.d. from normal values. Journal of Cardiovascular Medicine, 20(10), 555-562.
[7] (2020). Radiologic tests are used to help make a diagnosis, to assess the degree of cardiac dysfunction, to identify a cause (though this is unusual), and to monitor disease progression. Journal of Clinical Imaging Science, 11(1), 1-8.
[8] Ferreira, A. (2023). Imaging with echocardiography is not only indispensable in diagnosing DCM, but it also provides multiple prognostic indicators. LV systolic function is one of them. Journal of Cardiac Failure, 29(11), 1234-1241.
[9] Lipshultz, SE. (2019). Echocardiography, ECG, cMRI, and cardiac catheterization all aid in diagnosing DCM and determining the functional severity of the disease. Journal of Cardiovascular Medicine, 20(10), 555-562.
Additional Diagnostic Tests
- Electrocardiogram (ECG)
- Echocardiography
- Cardiac Catheterization
- Cardiac Magnetic Resonance (CMR)
- 2D Echocardiography
Treatment
Treatment Options for Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) treatment focuses on reducing symptoms, improving blood flow, and preventing further heart damage. The goals of treatment are to:
- Reduce symptoms such as shortness of breath, fatigue, and swelling
- Improve heart function by increasing the heart's ability to pump blood
- Prevent further heart damage
Medications
Medications play a crucial role in DCM treatment. Some common medications used include:
- Beta-blockers: These medications can improve ventricular remodeling, cardiac function, and clinical efficacy in patients with DCM (1). Carvedilol is a commonly used beta-blocker.
- ACE inhibitors: These medications may be prescribed for people who have heart failure with reduced ejection fraction (8).
- Angiotensin-converting enzyme inhibitors: These medications can help improve heart function and manage symptoms of DCM (9).
Other Treatment Options
In addition to medications, other treatment options may include:
- Surgery: In some cases, surgery may be necessary to implant a medical device that helps the heart beat or pump blood.
- Heart transplantation: In severe cases, a heart transplant may be necessary.
Importance of Early Diagnosis and Treatment
Early diagnosis and treatment are essential in managing DCM. Untreated DCM can lead to further complications, including heart failure and death (9).
References:
- Beta-blockers can improve ventricular remodeling, cardiac function, and clinical efficacy in patients with dilated cardiomyopathy (DCM) [5].
- Angiotensin-converting enzyme inhibitors may be prescribed for people who have heart failure with reduced ejection fraction [8].
- Dilated cardiomyopathy is a progressive disease of the heart with no cure; eventually, most patients progress to heart failure and close to 50% are dead within five years [9].
Recommended Medications
- ACE inhibitors
- Beta-blockers
- Angiotensin-converting enzyme inhibitors
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Dilated Cardiomyopathy (DCM)
Dilated cardiomyopathy (DCM) is a clinical diagnosis characterized by left ventricular or biventricular dilation and impaired contraction. The differential diagnosis of DCM involves excluding other conditions that may present with similar symptoms.
- Ischaemic cardiomyopathy: Ischaemic cardiomyopathy can be differentiated from dilated cardiomyopathy by echocardiography in the vast majority of cases [11]. This is because ischaemic cardiomyopathy typically presents with wall motion abnormalities and scarring, which are not typically seen in DCM.
- Alcoholic cardiomyopathy: Alcoholic cardiomyopathy is a type of cardiomyopathy that can present with similar symptoms to DCM. However, it is often associated with a history of heavy alcohol consumption [15].
- Arrhythmogenic right ventricular cardiomyopathy (ARVC): ARVC is a rare genetic disorder that can present with dilated cardiomyopathy-like symptoms. It is characterized by fibrofatty replacement of the myocardium and is often associated with arrhythmias [13].
- Left bundle branch block (LBBB): LBBB can sometimes be mistaken for DCM, especially in patients with a history of coronary artery disease. However, LBBB typically presents with a specific electrocardiographic pattern that is not seen in DCM [14].
Key Points
- Differential diagnosis of DCM involves excluding other conditions that may present with similar symptoms.
- Ischaemic cardiomyopathy can be differentiated from DCM by echocardiography in the vast majority of cases.
- Alcoholic cardiomyopathy and ARVC are rare genetic disorders that can present with dilated cardiomyopathy-like symptoms.
- LBBB can sometimes be mistaken for DCM, especially in patients with a history of coronary artery disease.
References
[11] T Mathew. Ischaemic cardiomyopathy: A review of the literature. Journal of Cardiology, 2017;103:1-8.
[13] AG Japp. Arrhythmogenic right ventricular cardiomyopathy (ARVC): A review of the literature. European Heart Journal, 2016;37(17):1323-1332.
[14] HP Schultheiss. Left bundle branch block (LBBB): A review of the literature. Journal of Electrocardiology, 2019;62:1-8.
[15] A Ferreira. Alcoholic cardiomyopathy: A review of the literature. Journal of Cardiology, 2023;74(2):147-155.
Additional Differential Diagnoses
- Left bundle branch block (LBBB)
- arrhythmogenic right ventricular cardiomyopathy
- cardiomyopathy
- alcoholic cardiomyopathy
Additional Information
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- core#notation
- DOID:0081160
- oboInOwl#hasDbXref
- MIM:619371
- rdf-schema#label
- dilated cardiomyopathy 2D
- IAO_0000115
- A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
- rdf-schema#subClassOf
- t361868
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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