Related Experiment Video

Updated: May 16, 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

[Contemporary trends of genetic analysis in hypertrophic cardiomyopathy]

Iu N Belenkov, E V Privalova, V Iu Kaplunova

    Kardiologiia
    |December 15, 2012
    PubMed

    Insights

    Researchers are investigating genetic and environmental factors influencing hypertrophic cardiomyopathy (HCMP) clinical presentation. Understanding these factors, beyond sarcomere gene mutations, is key to predicting disease outcomes.

    Area of Science:

    • Cardiovascular Genetics
    • Molecular Cardiology
    • Disease Pathogenesis

    Context:

    • Hypertrophic cardiomyopathy (HCMP) presents with diverse clinical manifestations.
    • Genetic factors, including sarcomere protein gene mutations, are established contributors to HCMP.
    • Environmental and other genetic modifiers are increasingly recognized as crucial in HCMP progression.

    Purpose:

    • To explore additional genetic and environmental factors influencing HCMP clinical course.
    • To investigate the role of cardiovascular system modifier gene polymorphisms in HCMP.
    • To identify associations between specific polymorphisms and unfavorable HCMP outcomes.

    Summary:

    • This study examines how polymorphisms in systems like the renin-angiotensin-aldosterone system (RAAS), sympathoadrenal system, nitric oxide synthase (NOS), endothelin system, and blood coagulation influence HCMP.
    • Beyond sarcomere gene mutations, these modifier genes are investigated for their impact on the clinical variability of HCMP.
    • The research aims to link specific genetic variations to the development of severe or adverse clinical phenotypes in HCMP patients.

    Impact:

    • Provides insights into the complex genetic architecture of HCMP.
    • May lead to improved risk stratification and personalized treatment strategies for HCMP.
    • Contributes to a deeper understanding of HCMP pathogenesis and clinical heterogeneity.

    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

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

    Published on: January 16, 2019

    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 I: Introduction and Classification01:25

    Cardiomyopathy I: Introduction and Classification

    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...
    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,...
    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...
    Pharmacogenomics: Identification of New Drug Targets01:29

    Pharmacogenomics: Identification of New Drug Targets

    Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
    Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

    Cardiomyopathy IV: Restrictive Cardiomyopathy

    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...