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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease

Daniele Masarone1, Giovanni Duro2, Santo Dellegrottaglie3

  • 1Division of Cardiology Second University of Naples - AO dei Colli, Presidio Monaldi, Naples, 80121, Italy.

Future Cardiology
|September 23, 2017
PubMed

Insights

Anderson-Fabry disease (AFD), a genetic disorder affecting multiple organs, can lead to severe cardiac issues. Patients with advanced cardiac involvement may benefit from an implantable cardioverter defibrillator to prevent sudden cardiac death.

Area of Science:

  • Genetics and rare diseases
  • Cardiology
  • Lysosomal storage disorders

Background:

  • Anderson-Fabry disease (AFD) is an inherited lysosomal storage disorder.
  • It results from deficient α-galactosidase A activity, impacting multiple organ systems.
  • Cardiac manifestations are common and can be severe.

Observation:

  • A specific case of AFD with isolated cardiac involvement is presented.
  • The patient exhibited symptoms necessitating close cardiac monitoring.
  • Progressive cardiac dysfunction posed a high risk for life-threatening arrhythmias.

Findings:

  • Left ventricular hypertrophy, valve thickening, and conduction disturbances are key cardiac features of AFD.
  • Advanced AFD cardiac disease can lead to myocardial fibrosis and sudden cardiac death.
  • Implantation of an implantable cardioverter defibrillator (ICD) was performed due to high arrhythmic event risk.

Implications:

  • Patients with advanced cardiac AFD may constitute a distinct subgroup requiring ICDs.
  • ICDs can serve as a primary prevention strategy for sudden cardiac death in these patients.
  • This case highlights the importance of recognizing and managing cardiac complications in AFD.
Abstract

Keywords:
Anderson-Fabry diseasecardiac magnetic resonancecardiomyopathiesechocardiographyenzymatic replacement therapysudden cardiac death

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