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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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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Acute Coronary Syndrome III: Diagnostic Studies01:30

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Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
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Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

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Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
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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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Dysrhythmias V: Evaluating Dysrhythmias01:30

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Dysrhythmias, also known as arrhythmias, are disturbances in the heart's rhythm that range from benign to life-threatening. A thorough evaluation is crucial for appropriate management and involves a comprehensive medical history, physical examination, and various diagnostic tests.Medical HistorySymptoms: Collect detailed information on palpitations, dizziness, syncope, chest pain, and fatigue. Note their onset, frequency, and triggers.Previous Cardiac Issues: Document any history of heart...
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Imaging Studies for Cardiovascular System I:Echocardiography01:17

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Cardiac imaging studies encompass a wide range of noninvasive and minimally invasive techniques designed to visualize the heart's structure and function in detail. One such technique is echocardiography, which uses high-frequency ultrasound waves to produce detailed images of the heart, known as echocardiograms.
Indications: Echocardiography is utilized to diagnose heart failure, valve disorders, and myocardial infarction. It also assesses cardiac structures' size, shape, and motion,...
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Related Experiment Video

Updated: Oct 18, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Screening for hypertrophic cardiomyopathy.

Sunayana C Pydah1, Kimberlee Mauck, Chelsea Shultis

  • 1At the time this article was written, Sunayana C. Pydah, Kimberlee Mauck , and Chelsea Shultis were students in the PA program at the University of Lynchburg in Lynchburg, Va. Ms. Pydah now practices in pediatrics at Santa Clara Valley Medical Center in San Jose, Calif. Ms. Mauck practices in the neurological ICU at the University of Virginia Medical Center in Charlottesville, Va., and is an adjunct professor in the PA program at the University of Lynchburg. Ms. Shultis practices in neurosurgery at Riverside Health System in Newport News, Va. At the University of Lynchburg, Jenna Rolfs is program director and an assistant professor in the PA program and practices at the Free Clinic of Central Virginia; Eric Schmidt is an associate professor in the PA program; and Joyce Nicholas is director of evaluation, assessment, and compliance and a professor in the PA program. The authors have disclosed no potential conflicts of interest, financial or otherwise.

JAAPA : Official Journal of the American Academy of Physician Assistants
|September 28, 2021
PubMed
Summary
This summary is machine-generated.

Hypertrophic cardiomyopathy (HCM) is a common inherited heart muscle disease affecting all ages, often presenting in adolescents and athletes. Early screening and management are crucial to prevent sudden cardiac death in undiagnosed individuals.

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Area of Science:

  • Cardiology
  • Genetics
  • Sports Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy.
  • It affects cardiac muscle function, including ventricular, valvular, and cellular levels.
  • HCM impacts all age groups but frequently manifests in adolescents and athletes.

Purpose of the Study:

  • To outline screening protocols for hypertrophic cardiomyopathy.
  • To describe current management strategies for patients diagnosed with HCM.
  • To raise awareness about the risks associated with undiagnosed HCM, including sudden cardiac death.

Main Methods:

  • Review of existing literature on HCM screening and management.
  • Analysis of clinical presentation and risk factors for sudden cardiac death in HCM patients.
  • Synthesis of guidelines for diagnosis and treatment of hypertrophic cardiomyopathy.

Main Results:

  • Many patients with HCM remain asymptomatic and undiagnosed.
  • Adolescents and athletes are a commonly affected demographic.
  • Sudden cardiac death is a significant risk, particularly in undiagnosed cases.

Conclusions:

  • Comprehensive screening is essential for early detection of HCM.
  • Effective management strategies can mitigate risks associated with hypertrophic cardiomyopathy.
  • Timely diagnosis and intervention are critical for improving outcomes and preventing mortality in HCM.