Related Experiment Video

Updated: May 20, 2026

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo
05:14

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo

Published on: May 16, 2020

[Histiocytoid cardiomyopathy in an infant]

L V Bregel', Iu M Belozerov, M L Ogloblina

    Kardiologiia
    |July 31, 2012
    PubMed

    Insights

    Histiocytoid cardiomyopathy, a rare pediatric heart condition, is caused by mitochondrial cytochrome B gene mutations. This case highlights its severe presentation in an infant, leading to fatal outcomes.

    Area of Science:

    • Cardiology
    • Genetics
    • Pediatrics

    Background:

    • Histiocytoid cardiomyopathy is a rare pediatric cardiac condition.
    • It is associated with mutations in the gene encoding mitochondrial cytochrome B.
    • This genetic defect impacts cardiomyocyte function and morphology.

    Observation:

    • A clinical case of a 4-month-old female infant with histiocytoid cardiomyopathy is described.
    • The patient presented with characteristic clinical features of the disease.
    • Microscopic examination revealed lipid and glycogen-rich foam cells in cardiomyocytes and conduction system.

    Findings:

    • The patient exhibited malignant arrhythmias and cardiomegaly.
    • The observed abnormalities stem from impaired mitochondrial electron transport due to the genetic mutation.
    • Females appear to be predominantly affected by this condition.

    Implications:

    • This case underscores the rarity and severity of histiocytoid cardiomyopathy in pediatric patients.
    • Understanding the genetic basis is crucial for diagnosis and potential therapeutic strategies.
    • Early recognition and management are vital due to the typically fatal prognosis.

    More Related Videos

    Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry06:53

    Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

    Published on: November 23, 2011

    Analysis of Cardiomyocyte Development using Immunofluorescence in Embryonic Mouse Heart10:56

    Analysis of Cardiomyocyte Development using Immunofluorescence in Embryonic Mouse Heart

    Published on: March 26, 2015

    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 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...
    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...
    Myocarditis I: Introduction01:21

    Myocarditis I: Introduction

    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...
    Myocarditis II: Clinical Features and Diagnostic Tests01:27

    Myocarditis II: Clinical Features and Diagnostic Tests

    Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...