Analysis of Cardiac Involvement in Patients With Fabry Disease in Anhui Region
10.3969/j.issn.1000-3614.2025.06.007
- VernacularTitle:安徽地区法布雷病患者心脏受累情况分析
- Author:
Zhiquan LIU
1
;
Qi WANG
;
Kui MAO
;
Xueping WEI
;
Guohong WU
;
Jia LIU
;
Wei WEN
;
Fei YU
;
Hao SU
;
Ji YAN
;
Dongmei YANG
;
Kangyu CHEN
Author Information
1. 中国科学技术大学附属第一医院(安徽省立医院)心血管内科,合肥 230001
- Publication Type:Journal Article
- Keywords:
Fabry disease;
Fabry disease cardiomyopathy;
alpha galactosidase A;
α-galactosidase gene
- From:
Chinese Circulation Journal
2025;40(6):597-604
- CountryChina
- Language:Chinese
-
Abstract:
Objectives:To analyze the cardiac involvement of patients with Fabry disease(FD)in Anhui region.Methods:This retrospective analysis included 48 previously and currently diagnosed FD patients(25 males)in Anhui region,overall patient and gender specific cardiac involvement was analyzed.Results:The median age of FD patients is 28.0(19.0,46.0)years.The cardiac manifestations of patients with FD were most commonly characterized by palpitations/arrhythmias(13/42 cases)and exertional dyspnea(11/42 cases),electrocardiographic changes were most commonly characterized by T-wave inversion(22/42 cases),ST-segment depression(16/42 cases),and left ventricular hypervoltage(18/42 cases),cardiac structural and functional changes were most common in papillary muscle hypertrophy(29/36 cases),bilateral sign(22/37 cases)and left ventricular hypertrophy(21/46 cases),as well as reduced left ventricular global longitudinal strain(26/39 cases).Neuropathic pain(28/43 cases)was the most common extracardiac manifestation of FD patients.FD patients of different gender differed in age at diagnosis(P=0.018),alpha galactosidase A activity(P<0.001),globotriaosylsphingosine(lyso-GL3)levels(P<0.001),enzyme replacement therapy rate(P=0.043),dyshidrosis(P<0.01),and the incidence of angiokeratoma(P=0.004).Correlation analysis showed that genotype was not correlated with enzyme activity or Lyso-GL-3 levels,whereas the Sokolow-Lyon index was positively correlated with Lyso-GL-3 levels(ρ=0.423,P=0.008),and the Sokolow-Lyon indices(septal thickness:ρ=0.562,P<0.001;left ventricle posterior wall thickness:ρ=0.569,P<0.001)and QRS duration(septal thickness:ρ=0.543,P<0.001;left ventricle posterior wall thickness:ρ=0.557,P<0.001)were positively correlated with left ventricular wall thickness.Conclusions:Cardiac involvement in patients with FD in the Anhui region is characterised by palpitations or arrhythmias,accompanied by nonspecific electrocardiographic changes.Echocardiography frequently reveals papillary muscle hypertrophy.The manifestation of cardiac involvement in patients of different genders is similar.
