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

被引:2
|
作者
Lazea, Cecilia [1 ]
Bucerzan, Simona [1 ,2 ]
Al-Khzouz, Camelia [1 ,2 ]
Zimmermann, Anca [3 ]
Vesa, Stefan Cristian [4 ]
Nascu, Ioana [5 ]
Cret, Victoria [5 ]
Crisan, Mirela [5 ]
Asavoaie, Carmen [5 ]
Miclea, Diana [6 ]
Grigorescu-Sido, Paula [7 ]
机构
[1] Iuliu Hatieganu Univ Med & Pharm, Emergency Pediat Hosp, Mother & Child Dept, Pediat Discipline 1,Clin Pediat 1, Cluj Napoca 400370, Romania
[2] Iuliu Hatieganu Univ Med & Pharm, Emergency Pediat Hosp, Dept Genet Dis, Cluj Napoca 400370, Romania
[3] Univ Med Ctr, Dept Diabetol & Endocrinol, Clin & Polyclin Internal Med 1, Med Clin 2,Clin Worms, D-55131 Mainz, Germany
[4] Iuliu Hatieganu Univ Med & Pharm, Dept Pharmacol Toxicol & Clin Pharmacol, Cluj Napoca 400012, Romania
[5] Emergency Pediat Hosp, Cluj Napoca 400370, Romania
[6] Iuliu Hatieganu Univ Med & Pharm Emergency Pedia, Dept Med Genet, Cluj Napoca 400012, Romania
[7] Iuliu Hatieganu Univ Med & Pharm, Fac Med, Cluj Napoca 400012, Romania
关键词
Gaucher disease; pulmonary hypertension; valvular heart disease; VENTRICULAR SYSTOLIC DYSFUNCTION; EXPERT CONSENSUS DOCUMENT; PULMONARY-ARTERY PRESSURE; EUROPEAN ASSOCIATION; ECHOCARDIOGRAPHIC-ASSESSMENT; MITRAL REGURGITATION; AMERICAN SOCIETY; RIGHT HEART; HYPERTENSION; CALCIFICATION;
D O I
10.3390/diagnostics11060989
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 < 0.001), longer time since splenectomy (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%).
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页数:19
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