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Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report

Mohammadreza Naderian1, Hamid Khederlou1, Ali Hosseinsabet1

  • 1Tehran Heart Center, Tehran University of Medical Sciences, North Kargar Street, Tehran, Iran.

European Heart Journal. Case Reports
|September 28, 2023
PubMed

Insights

Gaucher's disease, a lysosomal storage disorder, can cause severe heart valve issues. This case highlights successful surgical intervention for complex valvular heart disease in a Gaucher patient.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Lysosomal storage diseases (LSDs) are rare genetic disorders.
  • Gaucher's disease (GD) is the most common LSD, characterized by enzyme deficiencies.
  • Cardiovascular manifestations, particularly in GD Type III, include valvular calcification and aortic involvement.
Abstract

Keywords:
Cardiovascular involvementCase reportGaucher’s diseaseSupra-valvular aortic stenosisValvular calcification

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