Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)
Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in...
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doaj-8175fd31e68e4a10bc3c223b11bb5d412021-06-01T01:37:24ZengMDPI AGDiagnostics2075-44182021-05-011198998910.3390/diagnostics11060989Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)Cecilia Lazea0Simona Bucerzan1Camelia Al-Khzouz2Anca Zimmermann3Ștefan Cristian Vesa4Ioana Nașcu5Victoria Creț6Mirela Crișan7Carmen Asăvoaie8Diana Miclea9Paula Grigorescu-Sido101st Pediatric Discipline, Mother and Child Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, Clinic Pediatrics I, Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania1st Pediatric Discipline, Mother and Child Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, Department of Genetic Diseases, Emergency Pediatric Hospital, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania1st Pediatric Discipline, Mother and Child Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, Department of Genetic Diseases, Emergency Pediatric Hospital, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania1st Clinic and Polyclinic of Internal Medicine, Medical Clinic 2, Clinic of Worms, Department of Diabetology and Endocrinology, University Medical Center, 55131 Mainz, GermanyDepartment of Pharmacology, Toxicology and Clinical Pharmacology, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, RomaniaEmergency Pediatric Hospital, 400370 Cluj-Napoca, RomaniaEmergency Pediatric Hospital, 400370 Cluj-Napoca, RomaniaEmergency Pediatric Hospital, 400370 Cluj-Napoca, RomaniaEmergency Pediatric Hospital, 400370 Cluj-Napoca, RomaniaDepartment of Medical Genetics, “Iuliu Hațieganu” University of Medicine and Pharmacy, Emergency Pediatric Hospital, 400012 Cluj-Napoca, RomaniaFaculty of Medicine, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, RomaniaGaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (<i>p</i> < 0.001), longer time since splenectomy (<i>p</i> = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (<i>p</i> < 0.001). Electrocardiographic changes were present in five patients (7%).https://www.mdpi.com/2075-4418/11/6/989Gaucher diseasepulmonary hypertensionvalvular heart disease |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Cecilia Lazea Simona Bucerzan Camelia Al-Khzouz Anca Zimmermann Ștefan Cristian Vesa Ioana Nașcu Victoria Creț Mirela Crișan Carmen Asăvoaie Diana Miclea Paula Grigorescu-Sido |
spellingShingle |
Cecilia Lazea Simona Bucerzan Camelia Al-Khzouz Anca Zimmermann Ștefan Cristian Vesa Ioana Nașcu Victoria Creț Mirela Crișan Carmen Asăvoaie Diana Miclea Paula Grigorescu-Sido Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study) Diagnostics Gaucher disease pulmonary hypertension valvular heart disease |
author_facet |
Cecilia Lazea Simona Bucerzan Camelia Al-Khzouz Anca Zimmermann Ștefan Cristian Vesa Ioana Nașcu Victoria Creț Mirela Crișan Carmen Asăvoaie Diana Miclea Paula Grigorescu-Sido |
author_sort |
Cecilia Lazea |
title |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study) |
title_short |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study) |
title_full |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study) |
title_fullStr |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study) |
title_full_unstemmed |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study) |
title_sort |
cardiac manifestations in a group of romanian patients with gaucher disease type 1 (a monocentric study) |
publisher |
MDPI AG |
series |
Diagnostics |
issn |
2075-4418 |
publishDate |
2021-05-01 |
description |
Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (<i>p</i> < 0.001), longer time since splenectomy (<i>p</i> = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (<i>p</i> < 0.001). Electrocardiographic changes were present in five patients (7%). |
topic |
Gaucher disease pulmonary hypertension valvular heart disease |
url |
https://www.mdpi.com/2075-4418/11/6/989 |
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