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Related Concept Videos

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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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 V: Interprofessional Care01:29

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Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
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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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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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Cardiomyopathy in an Adolescent with McLeod Syndrome: Searching Beyond the Routine Assessment.

Sophie I Mavrogeni1,2,3, Kyriaki Kekou4,5, George Markousis-Mavrogenis6,4,7

  • 1Onassis Cardiac Surgery Center, Athens, Greece. soma13@otenet.gr.

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Summary

This case report details the first neurologically asymptomatic adolescent diagnosed with McLeod syndrome, presenting with hyperCKemia and dilated cardiomyopathy. Early genetic assessment and cardiovascular magnetic resonance (CMR) were crucial for diagnosis.

Keywords:
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Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • McLeod syndrome is rare, with few reports linking it to cardiomyopathy, primarily in adults with neurological symptoms.
  • Existing literature lacks information on cardiomyopathy development in McLeod syndrome, especially in pediatric cases.

Purpose of the Study:

  • To report the first case of McLeod syndrome in a neurologically asymptomatic 14-year-old male with hyperCKemia and dilated cardiomyopathy.
  • To highlight the importance of genetic assessment and advanced imaging in diagnosing McLeod syndrome, even without neurological signs.

Main Methods:

  • Clinical presentation of a 14-year-old male with hyperCKemia and dilated cardiomyopathy.
  • Genetic testing to confirm McLeod syndrome.
  • Cardiovascular magnetic resonance (CMR) imaging to evaluate cardiac involvement, despite a normal echocardiogram.

Main Results:

  • The patient was diagnosed with McLeod syndrome through genetic assessment.
  • Cardiovascular magnetic resonance (CMR) revealed dilated cardiomyopathy without signs of myocarditis.
  • Neurological symptoms were absent, likely due to the patient's young age.

Conclusions:

  • This case underscores that McLeod syndrome can manifest with dilated cardiomyopathy in neurologically asymptomatic adolescents.
  • Early diagnosis through genetic testing and CMR is vital, even with normal echocardiograms.
  • Further research is needed on the age of cardiomyopathy onset in McLeod syndrome.