Early cardiovascular remodelling in Fabry disease

被引:17
作者
Costanzo, Luca [1 ]
Buccheri, Sergio [1 ]
Capranzano, Piera [1 ]
Di Pino, Luigi [1 ]
Curatolo, Giuseppina [1 ]
Rodolico, Margherita [2 ]
Leggio, Stefano [1 ]
Blundo, Anita [1 ]
Tamburino, Corrado [1 ]
Monte, Ines [3 ]
机构
[1] Univ Catania, Dept Med & Pediat Sci, Catania, Italy
[2] CNR, Catania, Italy
[3] AOU Policlin Vittorio Emanuele, Ecocardiog Clin, I-95100 Catania, Italy
关键词
INTIMA-MEDIA THICKNESS; TISSUE DOPPLER; TASK-FORCE; ECHOCARDIOGRAPHY; DYSFUNCTION; RECOMMENDATIONS; CARDIOMYOPATHY; VASODILATION; RELAXATION; ULTRASOUND;
D O I
10.1007/s10545-013-9607-1
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal alpha-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left ventricular hypertrophy (LVH). This study includes subjects carrying genetic mutations for FD (Fabry disease mutation-carrier, FDMC) without LVH (n = 19). A group of control subjects (n = 19) matched for age, sex, body mass index and cardiovascular risk factors were also included. All subjects underwent echocardiography, carotid ultrasound scan, endothelial flow-mediated dilatation (FMD) and nailfold capillaroscopy (NFC) assessment. When compared to the subjects in the control group, FDMC patients showed significantly lower mean values of systolic myocardial velocity (7.33 +/- 1.28 vs. 10.08 +/- 1.63 cm/s, p < 0.0001), longitudinal systolic strain (-18.07 +/- 1.72 vs. -21.15 +/- 2.22 %, p < 0.0001), significantly higher E/E' mean values (7.15 +/- 1.54 vs. 5.98 +/- 1.27, p = 0.016) and intima-media thickness mean values (0.80 +/- 0.20 vs. 0.61 +/- 0.19 mm, p = 0.005), significantly lower FMD (8.3 +/- 4.6 vs. 12.2 +/- 5.0 %, p = 0.02), more atypical capillaries and irregular NFC architecture in FDMC than control subjects (52.6 vs. 0 %, p < 0.0001; 78.9 vs. 36.8 %, p = 0.02 respectively). FD progressively involves cardiac, macrovascular and microvascular systems in an early stage. These features are present even in asymptomatic mutation carriers without LVH.
引用
收藏
页码:109 / 116
页数:8
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