Related Experiment Video

Updated: Aug 19, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

[Early diagnosis in hypertrophic cardiomyopathy--case report]

Ioana Dana Alexa1, Laurette Graziella Cozma, Gina Constantinescu

  • 1Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi, Facultatea de Medicină, Clinica a IV-a Medicală-Nefrologie.

Revista Medico-Chirurgicala a Societatii De Medici Si Naturalisti Din Iasi
|February 4, 2005
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) causes disproportionate heart muscle growth. Early echocardiography in patients with unusual heart symptoms is vital for identifying HCM and preventing sudden cardiac death, especially in young individuals.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is characterized by disproportionate heart muscle enlargement with minimal chamber dilation.
  • The clinical presentation of HCM is highly variable, ranging from asymptomatic cases to sudden cardiac death.

Observation:

  • Sudden death, often during physical exertion, can be the first manifestation of HCM, particularly in children and young adults.
  • Two cases of HCM illustrate diverse clinical and electrocardiogram (ECG) variations.

Findings:

  • HCM diagnosis requires recognizing specific patterns of cardiac hypertrophy.
  • Variability in clinical symptoms and ECG findings complicates early diagnosis.

Implications:

  • Routine echocardiography is crucial for identifying HCM in patients presenting with atypical cardiac symptoms.
  • Early detection of HCM can mitigate the risk of sudden cardiac death.
  • Understanding HCM's variable presentation aids in timely diagnosis and management.

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

A Surgical Method for Subvalvular Structure Intervention Through a Transaortic Approach in Normal Bama Pigs07:24

A Surgical Method for Subvalvular Structure Intervention Through a Transaortic Approach in Normal Bama Pigs

Published on: March 13, 2026

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

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...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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,...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

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...
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

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...