Related Experiment Video
Updated: Feb 25, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
4.3K
Genetics of Dilated Cardiomyopathy: Risk of Conduction Defects and Sudden Cardiac Death
Samer Arnous1, Petros Syrris2, Srijita Sen-Chowdhry3
1Inherited Cardiovascular Disease Group, University College London Hospitals NHS Trust, The Heart Hospital, 16-18 Westmoreland Street, Westminster, London W1G 8PH, UK.
Cardiac Electrophysiology Clinics
|August 4, 2017
Summary
Dilated cardiomyopathy is often genetic. Testing for lamin A/C (LMNA) and desmosomal gene mutations can help predict sudden cardiac death risk and guide patient management.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) has a strong genetic basis, with familial inheritance in 40-60% of cases.
- Over 40 genes are implicated in DCM, but routine screening of all is not currently cost-effective.
Purpose of the Study:
- To identify specific genetic mutations associated with increased risk of sudden cardiac death in dilated cardiomyopathy.
- To evaluate the clinical utility of targeted genetic screening for prognostication and management of DCM.
Main Methods:
- Review of existing literature on genetic causes of dilated cardiomyopathy.
- Analysis of mutation data for lamin A/C (LMNA) and desmosomal genes in relation to clinical outcomes.
Main Results:
- Mutations in LMNA and desmosomal genes are linked to a higher risk of sudden cardiac death, particularly in left-dominant arrhythmogenic cardiomyopathy.
- Clinical features may help identify patients with these specific mutations.
Conclusions:
- Targeted mutation screening of LMNA and desmosomal genes is recommended for dilated cardiomyopathy patients.
- This approach may improve risk stratification, prognostication, and clinical management.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
555
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...
555
01:30Cardiomyopathy II: Dilated Cardiomyopathy
649
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,...
649
01:25Cardiomyopathy I: Introduction and Classification
679
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...
679
01:29Pathophysiology of Cardiac Performance
1.7K
Typical heart performance is influenced by heart rate, rhythm, myocardial contraction, and metabolism or blood flow. The cardiac muscle exhibits distinct electrophysiological features, including pacemaker activity and calcium channel control, which play a vital role in the heart's response to various drugs. The autonomic nervous system, comprising the sympathetic and parasympathetic branches, regulates heart rate. Sympathetic activation increases heart rate, while parasympathetic activation...
1.7K
01:29Cardiomyopathy V: Interprofessional Care
520
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...
520
01:30Coronary Artery Disease I: Introduction
1.3K
Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
1.3K