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Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

Cecilia Lazea1, Simona Bucerzan2, Camelia Al-Khzouz2

  • 11st Pediatric Discipline, Mother and Child Department, "Iuliu Hațieganu" University of Medicine and Pharmacy, Clinic Pediatrics I, Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania.

Diagnostics (Basel, Switzerland)
|June 2, 2021
PubMed

Insights

Gaucher disease (GD) can affect the heart, causing pulmonary hypertension and valve issues. This study found 13% of Romanian GD patients had signs of pulmonary hypertension and nearly half had mitral regurgitation.

Area of Science:

  • Cardiology
  • Genetics
  • Lysosomal Storage Disorders

Background:

  • Gaucher disease (GD) is a common lysosomal disorder with variable clinical presentations.
  • Cardiac involvement, though rare in GD, can manifest as pulmonary hypertension (PH), valvular abnormalities, and myocardial damage.

Purpose of the Study:

  • To investigate the prevalence and characteristics of cardiac involvement in Romanian patients with Gaucher disease type 1.
  • To assess pulmonary pressure, valve function, and electrocardiographic changes in this cohort.

Main Methods:

  • Phenotypic and genotypic characterization of 69 Gaucher disease type 1 patients.
  • Annual echocardiography and electrocardiography to monitor cardiac parameters.
  • Statistical analysis to identify factors associated with cardiac manifestations.

Main Results:

  • Pulmonary hypertension (PH) was identified in 13% of patients.
  • Mitral regurgitation affected 48% and aortic regurgitation 16% of patients; 10% had significant valvular dysfunction.
  • PH correlated with older age, longer time since splenectomy, and delayed enzyme replacement therapy initiation.

Conclusions:

  • Cardiac involvement, particularly valvular abnormalities and pulmonary hypertension, is present in a significant subset of Gaucher disease patients.
  • Early detection and management of cardiac complications are crucial in Gaucher disease care.

Keywords:
Gaucher diseasepulmonary hypertensionvalvular heart disease

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