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Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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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...
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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...
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Related Experiment Video

Updated: May 13, 2026

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

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Published on: June 14, 2016

Fabry disease and cardiovascular involvement.

Aris Anastasakis1, Efstathios Papatheodorou, Alexandros Klavdios Steriotis

  • 1First Department of Cardiology, University of Athens, Greece. anastasakisaris@gmail.com.

Current Pharmaceutical Design
|March 2, 2013
PubMed
Summary

Fabry disease (FD) is a rare genetic disorder causing progressive organ damage, particularly in the heart and kidneys. Early diagnosis and enzyme replacement therapy are crucial for managing FD and preventing irreversible fibrosis.

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Last Updated: May 13, 2026

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
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07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Cardiology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder due to alpha-galactosidase A (α-gal A) deficiency.
  • Glycosphingolipid accumulation leads to multisystemic manifestations, including cardiac and renal fibrosis.
  • Cardiovascular complications are a major cause of morbidity and mortality in FD patients.

Purpose of the Study:

  • To highlight the cardiovascular manifestations of Fabry disease.
  • To emphasize the importance of early diagnosis and treatment initiation.
  • To suggest including FD in the differential diagnosis of idiopathic hypertrophy.

Main Methods:

  • Review of clinical manifestations and diagnostic approaches for Fabry disease.
  • Discussion of diagnostic gold-standards: Alpha-Gal A activity assay and genetic testing.
  • Mention of advanced imaging techniques for subclinical diagnosis (tissue Doppler imaging, strain rate, cardiac MRI).

Main Results:

  • Left ventricular hypertrophy is the most common cardiac manifestation.
  • Other cardiac issues include conduction defects, valve dysfunction, arrhythmias, and microvascular dysfunction.
  • Early diagnosis using advanced techniques is vital for effective treatment.

Conclusions:

  • Enzyme replacement therapy yields greatest benefit when initiated before irreversible tissue damage.
  • Fabry disease diagnosis is critical in patients with idiopathic hypertrophy.
  • Timely intervention can mitigate severe cardiovascular complications in FD.