Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis)

被引:3
作者
Guzel, Tuncay [1 ]
Caglar, Fatma Nihan Turhan [2 ]
Ekici, Berkay [3 ]
Kis, Mehmet [4 ]
Oztas, Selvi [5 ]
Oz, Ahmet [6 ]
Gok, Gulay [7 ]
Kolak, Zeynep [8 ]
Aksit, Ercan [9 ]
Sarica, Suleyman Anil [10 ]
Bayrak, Murat [11 ]
Birdal, Oguzhan [12 ]
Uguz, Berat [13 ]
Gitmez, Mesut [14 ]
Berk, Gul Ilayda [15 ]
Oguz, Mustafa [16 ]
Calik, Ali Nazmi [8 ]
Kilic, Salih [17 ]
Zoghi, Mehdi [18 ]
Ergene, Asim Oktay [4 ]
机构
[1] Hlth Sci Univ, Gazi Yasargil Training & Res Hosp, Dept Cardiol, TR-21070 Diyarbakir, Turkiye
[2] Sadi Konuk Training & Res Hosp, Dept Cardiol, Istanbul, Turkiye
[3] Lokman Hekim Univ, Fac Med, Dept Cardiol, Ankara, Turkiye
[4] Dokuz Eylul Univ, Dept Cardiol, Izmir, Turkiye
[5] Bursa City Hosp, Dept Cardiol, Bursa, Turkiye
[6] Istanbul Training & Res Hosp, Dept Cardiol, Istanbul, Turkiye
[7] Istanbul Medipol Univ, Dept Cardiol, Istanbul, Turkiye
[8] Dr Siyami Ersek Thorac & Cardiovasc Surg Training, Dept Cardiol, Istanbul, Turkiye
[9] Canakkale Onsekiz Mart Univ, Fac Med, Dept Cardiol, Canakkale, Turkiye
[10] Bayburt State Hosp, Dept Cardiol, Bayburt, Turkiye
[11] Antalya Kepez State Hosp, Dept Cardiol, Antalya, Turkiye
[12] Erzurum Ataturk Univ, Fac Med, Dept Cardiol, Erzurum, Turkiye
[13] Bursa City Hosp, Dept Cardiol, Bursa, Turkiye
[14] Batman Training & Res Hosp, Dept Cardiol, Batman, Turkiye
[15] Antalya Ataturk State Hosp, Dept Cardiol, Antalya, Turkiye
[16] Van Training & Res Hosp, Dept Cardiol, Van, Turkiye
[17] Adana City Training & Res Hosp, Dept Cardiol, Adana, Turkiye
[18] Ege Univ, Dept Cardiol, Izmir, Turkiye
关键词
Fabry Disease; Left ventricular hypertrophy; Echocardiography; a-Gal A enzyme activity; GLA gene mutation; DIAGNOSIS; MANAGEMENT;
D O I
10.1007/s10554-023-02826-w
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Purpose: In this prospective study we aimed to determine the rate of Fabry Disease (FD) in patients with left ventricular hypertrophy (LVH), and to evaluate the clinical presentations of patients with FD in a comprehensive manner. In addition, we aimed to raise awareness about this issue by allowing early diagnosis and treatment of FD. Methods: Our study was planned as national, multicenter, observational. Totally 22 different centers participated in this study. A total of 886 patients diagnosed with LVH by echocardiography (ECHO) were included in the study. Demographic data, biochemical parameters, electrocardiography (ECG) findings, ECHO findings, treatments and clinical findings of the patients were recorded. Dry blood samples were sent from male patients with suspected FD. The alpha-Gal A enzyme level was checked and genetic testing was performed in patients with low enzyme levels. Female patients suspected of FD were genetically tested with the GLA Gene Mutation Analysis. Results: FD was suspected in a total of 143 (16.13%) patients included in the study. The alpha-Gal-A enzyme level was found to be low in 43 (4.85%) patients whom enzyme testing was requested. GLA gene mutation analysis was positive in 14 (1.58%) patients. Male gender, E/e' mean ,and severe hypertrophy are important risk factor for FD. Conclusion: In daily cardiology practice, FD should be kept in mind not only in adult patients with unexplained LVH but also in the entire LVH population. Dry blood test (DBS) should be considered in high-risk patients, and mutation analysis should be considered in required patients.
引用
收藏
页码:1143 / 1155
页数:13
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