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Related Concept Videos

Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Cardiomyopathy I: Introduction and Classification01:25

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Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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Cardiomyopathy II: Dilated Cardiomyopathy01:30

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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Myocarditis II: Clinical Features and Diagnostic Tests01:27

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Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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McArdle disease: 2 case reports.

Carolina Diez Morrondo1, Lucía Pantoja Zarza1, Beatriz San Millán Tejado2

  • 1Servicio de Reumatología, Hospital El Bierzo, Ponferrada, León, España.

Reumatologia Clinica
|August 4, 2015
PubMed
Summary
This summary is machine-generated.

Elevated creatine kinase (CK) can indicate myopathies. This study diagnosed McArdle disease, a metabolic disorder, in two patients with high CK levels and null myophosphorylase activity.

Keywords:
Enfermedad de McArdleGlucogenosis muscularMcArdle diseaseMetabolic myopathyMiofosforilasaMiopatía metabólicaMuscular glycogenosisMyophosphorylase

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Clinical Diagnostics

Background:

  • Elevated serum creatine kinase (CK) levels frequently necessitate specialist referral.
  • Myopathies represent a significant category of conditions causing increased CK.
  • McArdle disease is identified as the most prevalent skeletal muscle carbohydrate metabolism disorder.

Observation:

  • Two patients, a 72-year-old asymptomatic male and a 30-year-old female with mild symptoms, were evaluated for elevated CK.
  • Both patients presented with normal electromyography results.
  • Muscle biopsy revealed a complete absence of myophosphorylase activity in both individuals.

Findings:

  • The diagnostic evaluation confirmed McArdle disease in both patients.
  • Null myophosphorylase activity is a key indicator for McArdle disease diagnosis.
  • The study highlights the utility of enzyme activity assays in muscle biopsies for diagnosing metabolic myopathies.

Implications:

  • This case series underscores the importance of investigating elevated CK levels, even in asymptomatic individuals.
  • Early diagnosis of McArdle disease allows for appropriate patient management and genetic counseling.
  • Understanding the clinical spectrum of McArdle disease aids in differential diagnosis for unexplained myopathies.