Related Experiment Video
Updated: Mar 14, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
4.4K
Update on hypertrophic cardiomyopathy and a guide to the guidelines
Srijita Sen-Chowdhry1,2, Daniel Jacoby3, James C Moon1,4
1Institute of Cardiovascular Science, University College London, Gower Street, London WC1E 6BT, UK.
Nature Reviews. Cardiology
|September 30, 2016
Summary
Hypertrophic cardiomyopathy (HCM), a common inherited heart condition, may be more prevalent than previously thought. Current management strategies improve life expectancy for most patients with HCM.
Area of Science:
- Cardiology
- Genetics
- Inherited Cardiovascular Disorders
Background:
- Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting approximately 1 in 500 people.
- Prevalence may be underestimated due to limited recognition of early or incomplete phenotypic expressions.
- Clinical features range from diastolic dysfunction to a 'burnt-out' phase, with mortality risks including sudden cardiac death, heart failure, and stroke.
Purpose of the Study:
- To provide a comprehensive review of current clinical guidelines for hypertrophic cardiomyopathy (HCM).
- To highlight updates, knowledge gaps, and implementation challenges in HCM management.
- To discuss advancements in genetics, imaging, and molecular research for future diagnosis and therapy.
Main Methods:
- Review of existing epidemiological data and clinical manifestations of HCM.
- Analysis of contemporary management strategies, including screening, risk stratification, and device implantation.
- Examination of current clinical guidelines from major cardiology organizations (ACC Foundation/AHA, ESC).
Main Results:
- Most individuals with HCM can achieve normal or near-normal life expectancy with contemporary management.
- Guidelines from ACC Foundation/AHA and ESC aid in the evaluation and management of HCM.
- Advances in genetics, imaging, and molecular research are crucial for future diagnostic and therapeutic progress.
Conclusions:
- Effective management strategies and guideline adherence are key to improving outcomes for HCM patients.
- Addressing knowledge gaps and implementation challenges is essential for optimal HCM care.
- Future research in genetics, imaging, and molecular biology holds promise for enhanced diagnosis and treatment of HCM.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
611
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...
611
01:29Cardiomyopathy V: Interprofessional Care
574
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...
574
01:25Cardiomyopathy I: Introduction and Classification
748
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...
748
01:30Cardiomyopathy II: Dilated Cardiomyopathy
705
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,...
705
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
724
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...
724
01:29Cardiomyopathy VI: Nursing Management
434
Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
434