Related Experiment Video

Updated: Jun 26, 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

Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the

Michał Saj, Agnieszka Jankowska, Michał Lewandowski

    International Journal of Cardiology
    |January 27, 2009
    PubMed

    Insights

    The LMNA R541C mutation causes cardiac issues in laminopathies, including arrhythmias and heart muscle defects. Early symptoms and progressive heart dilation highlight the mutation

    Area of Science:

    • Cardiology
    • Genetics
    • Molecular Biology

    Background:

    • Laminopathies frequently involve cardiac complications, primarily dilated cardiomyopathy, atrio-ventricular block, and malignant ventricular arrhythmias.
    • Genotype-phenotype correlations in laminopathies are challenging due to variable disease progression, even within families.

    Observation:

    • A 19-year-old patient with the LMNA R541C mutation presented with early symptoms at age 11 and progressive left ventricular (LV) dilatation.
    • Shared features with previously reported cases included significant LV segmental contractility defects (inferior wall dyskinesis, LV apex akinesis), left bundle branch block (LBBB) without atrio-ventricular block, and a need for an implantable cardioverter-defibrillator (ICD).

    Findings:

    • The LMNA R541C mutation is associated with distinct cardiac manifestations, including localized LV wall motion abnormalities and dilated cardiomyopathy.
    • Early onset and rapid progression of LV dilatation were noted in this case, differing from some previous reports.

    Implications:

    • The LMNA R541C mutation should be considered in patients presenting with malignant ventricular arrhythmias and localized LV contractility abnormalities.
    • This mutation should also be suspected in cases of classic dilated cardiomyopathy with severe segmental LV contractility defects, broadening diagnostic considerations.

    More Related Videos

    Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia09:36

    Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

    Published on: December 22, 2023

    In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

    In Vivo Modeling of the Morbid Human Genome using Danio rerio

    Published on: August 24, 2013

    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 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 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 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...
    Mitral Valve Prolapse I: Introduction01:27

    Mitral Valve Prolapse I: Introduction

    IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
    Mitral Stenosis I: Introduction01:22

    Mitral Stenosis I: Introduction

    Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...