Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)
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
Affiliations
Cecilia Lazea
1st Pediatric Discipline, Mother and Child Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, Clinic Pediatrics I, Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Simona Bucerzan
1st Pediatric Discipline, Mother and Child Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, Clinic Pediatrics I, Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Camelia Al-Khzouz
1st Pediatric Discipline, Mother and Child Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, Clinic Pediatrics I, Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Anca Zimmermann
1st Clinic and Polyclinic of Internal Medicine, Medical Clinic 2, Clinic of Worms, Department of Diabetology and Endocrinology, University Medical Center, 55131 Mainz, Germany
Ștefan Cristian Vesa
Department of Pharmacology, Toxicology and Clinical Pharmacology, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Ioana Nașcu
Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Victoria Creț
Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Mirela Crișan
Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Carmen Asăvoaie
Emergency Pediatric Hospital, 400370 Cluj-Napoca, Romania
Diana Miclea
Department of Medical Genetics, “Iuliu Hațieganu” University of Medicine and Pharmacy, Emergency Pediatric Hospital, 400012 Cluj-Napoca, Romania
Paula Grigorescu-Sido
Faculty of Medicine, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
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 (p p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).
