Related Experiment Video
Updated: Jul 16, 2025
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.2K
Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement
Anna Burban1,2, Szymon Pucyło1, Aleksandra Sikora1
1First Department of Cardiology, Medical University of Warsaw, ul. Banacha 1A, 02-097 Warszawa, Poland.
International Journal of Molecular Sciences
|September 9, 2023
Summary
Hypertrophic cardiomyopathy (HCM) and related genetic cardiomyopathies cause heart failure through left ventricular thickening. Research explores pharmacological and gene therapies, with genetic approaches showing promise but requiring further safety and efficacy studies.
Area of Science:
- Cardiology
- Genetics
- Pharmacology
Background:
- Cardiomyopathies are a significant cause of heart failure.
- Hypertrophic cardiomyopathy (HCM) is the most prevalent type, marked by left ventricular hypertrophy.
- Other genetic cardiomyopathies with myocardial hypertrophy include Fabry, Pompe, and Danon diseases.
Purpose of the Study:
- To review the genetics and pathogenesis of HCM and related hypertrophic cardiomyopathies.
- To summarize current and emerging treatment strategies.
- To highlight the potential of gene therapies for these conditions.
Main Methods:
- Review of existing literature on hypertrophic cardiomyopathies.
- Analysis of genetic and pathogenetic mechanisms.
- Evaluation of pharmacological and gene-based therapeutic approaches.
Main Results:
- Detailed description of the genetic underpinnings and disease progression in HCM, Fabry, Pompe, and Danon diseases.
- Overview of current treatments, including pharmacological interventions.
- Exploration of gene therapy as a potential future treatment modality.
Conclusions:
- Genetic cardiomyopathies, particularly HCM, require comprehensive understanding and treatment strategies.
- Gene therapies represent a promising avenue for treating these diseases.
- Further research is essential to validate the efficacy and safety of genetic treatments.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
16
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...
16
01:25Cardiomyopathy I: Introduction and Classification
15
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...
15
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
12
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...
12
01:30Cardiomyopathy II: Dilated Cardiomyopathy
11
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,...
11
01:29Cardiomyopathy V: Interprofessional Care
14
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...
14
01:21Myocarditis I: Introduction
9
Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
9