Related Experiment Video

Updated: Feb 3, 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

4.3K

Storage diseases with hypertrophic cardiomyopathy phenotype

Luis Ruiz-Guerrero1, Roberto Barriales-Villa2,3

  • 1Cardiology Service, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Santander, Spain.

Global Cardiology Science & Practice
|November 6, 2018
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) can be mimicked by storage diseases, not just sarcomeric causes. Early diagnosis of these HCM phenocopies is crucial for timely treatment and genetic counseling.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is often assumed to be sarcomeric.
  • HCM phenocopies, primarily storage diseases, represent 5-10% of cases.
  • Senile cardiac amyloidosis is increasingly prevalent, particularly in developing nations.

Purpose of the Study:

  • To review HCM phenocopies, focusing on storage disorders.
  • To highlight the diagnostic challenges posed by these heterogeneous conditions.
  • To emphasize the importance of early diagnosis for effective management.

Main Methods:

  • Classification of storage disorders into extracellular and intracellular deposit types.
  • Focus on prevalent conditions relevant to cardiologists.
  • Review of current understanding and clinical implications.

Main Results:

  • Storage diseases present a diagnostic challenge due to multisystemic involvement.
  • Delayed diagnosis impacts patient outcomes and genetic counseling.
  • Emerging therapies necessitate a better understanding of these conditions.

Conclusions:

  • HCM phenocopies are a significant consideration in hypertrophic cardiomyopathy diagnosis.
  • Accurate identification of storage disorders is vital for appropriate treatment.
  • Further research and clinical awareness are needed for optimal patient care.

More Related Videos

A Mouse Model of Mechanotransduction-driven, Human-like Hypertrophic Scarring05:54

A Mouse Model of Mechanotransduction-driven, Human-like Hypertrophic Scarring

Published on: November 29, 2024

2.2K
Modeling and Evaluation of Murine Diabetic Cardiomyopathy Model06:22

Modeling and Evaluation of Murine Diabetic Cardiomyopathy Model

Published on: November 29, 2024

1.5K

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...
490
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,...
568
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...
538
Storage01:23

Storage

A schema is a mental framework that helps individuals organize and interpret information. Schemata, formed from previous experiences, influence how we process new information: how we encode it, the inferences we make, and how we retrieve it. For instance, a schema for what a typical classroom looks like might include desks, a teacher's desk, a whiteboard, and students in such an environment. This expectation helps us quickly understand and navigate new classrooms without needing to analyze...
410
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

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...
442
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...
605