Related Experiment Video

Updated: Aug 3, 2026

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

The pathology of hypertrophic cardiomyopathy

S E Hughes1

  • 1Department of Histopathology, Royal Free and University College Medical School, University College London and UCL Hospitals NHS Trust, London, UK. sian.hughes@ucl.ac.uk

Histopathology
|May 14, 2004
PubMed

Insights

Sudden cardiac death (SCD) in young individuals can be the first sign of hypertrophic cardiomyopathy (HCM). Accurate pathological diagnosis of HCM is vital for families, requiring cardiac screening and genetic counseling.

Area of Science:

  • Cardiovascular Pathology
  • Medical Genetics

Background:

  • Sudden cardiac death (SCD) is a devastating outcome, particularly in young, asymptomatic individuals.
  • Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease that can lead to SCD and may present asymptomatically.
  • Pathological diagnosis is often the first encounter with HCM, highlighting its silent nature.

Purpose of the Study:

  • To review the pathological diagnosis of hypertrophic cardiomyopathy (HCM).
  • To discuss recent advances in the genetics of HCM.
  • To identify common pitfalls in HCM diagnosis and reduce diagnostic uncertainty.

Main Methods:

  • Review of pathological diagnostic criteria for HCM.
  • Synthesis of current research on genetic underpinnings of HCM.
  • Analysis of diagnostic challenges and potential resolutions.

Main Results:

  • HCM diagnosis relies on characteristic pathological findings of left ventricular hypertrophy.
  • Genetic mutations are increasingly identified as causative factors in HCM.
  • Diagnostic uncertainty can arise from overlapping conditions and subtle pathological changes.

Conclusions:

  • Prompt and accurate pathological diagnosis of HCM is crucial for affected families.
  • Genetic screening and counseling are essential for families with HCM.
  • Understanding diagnostic pitfalls improves clinical and pathological identification of HCM.

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Related Concept Videos

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...
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
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 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...
Cellular Adaptation II: Hypertrophy01:26

Cellular Adaptation II: Hypertrophy

Hypertrophy is the increase in the size of individual cells, resulting in the enlargement of a tissue or organ. Unlike hyperplasia, which involves an increase in cell number, hypertrophy is characterized by an increase in cell volume. This process often occurs in response to higher functional demand or hormonal stimulation, leading to the production of more structural proteins and organelles, thereby enhancing the cells' work capacity.There are two primary types of hypertrophy: physiological...