Related Experiment Video

Updated: Jul 30, 2025

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

3.2K

Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report

Evangelia Bei1, Alexios S Antonopoulos1, Georgios Tsivgoulis2

  • 1Unit of Inherited Cardiac and Rare Diseases, First Department of Cardiology, National and Kapodistrian University of Athens, 114 Vas. Sofias Avenue, 11527 Athens, Greece.

European Heart Journal. Case Reports
|May 18, 2023
PubMed

Insights

This case report details cardiac involvement in a patient with Anderson-Fabry disease (AFD) and a D313Y variant, highlighting diagnostic complexities. It emphasizes the need for thorough cardiac evaluation in AFD patients with co-existing conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Nephrology

Background:

  • A case report on Anderson-Fabry disease (AFD), a genetic disorder affecting the alpha-galactosidase A (GLA) gene, focusing on the D313Y variant.
  • The patient presented with severe chronic kidney disease and was undergoing treatment with migalastat.

Observation:

  • A 53-year-old male with a history of coronary artery disease, atrial fibrillation, and hypertension was evaluated for cardiac involvement related to AFD.
  • Diagnostic workup revealed reduced alpha-galactosidase A activity, borderline lyso-Gb3 levels, and characteristic AFD symptoms including acroparesthesias and angiokeratomas.
  • Cardiac imaging showed left ventricular hypertrophy, ischemic heart disease, myocardial inflammation, and fibrosis, suggesting a complex cardiomyopathic process.

Findings:

  • This is the first reported case of cardiac involvement in an AFD patient with the D313Y variant.
  • The findings underscore the diagnostic challenges in identifying cardiac manifestations of AFD, particularly when other cardiac pathologies are present.

Implications:

  • This case highlights the importance of comprehensive cardiac assessment in AFD patients, even with known co-morbidities.
  • It suggests that AFD may contribute to cardiac dysfunction beyond typical ischemic or hypertensive heart disease.
Abstract

Keywords:
Case reportD313Y mutationFabry diseaseMyocardial involvement

More Related Videos

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

9.8K
Author Spotlight: A Neonatal Heterotopic Rat Heart Transplantation Model for the Study of Endothelial-to-Mesenchymal Transition08:38

Author Spotlight: A Neonatal Heterotopic Rat Heart Transplantation Model for the Study of Endothelial-to-Mesenchymal Transition

Published on: July 21, 2023

1.2K

Related Concept Videos

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,...
12
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...
17
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...
21
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...
12
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...
25
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
46