PDF(Pubmed)
Abstract：
Williams-Beuren syndrome (WBS) (Online Mendelian Inheritance in Man #194050) is a rare genetic multisystem disorder resulting from a chromosomal microdeletion at 7q11.23. The condition is characterized by distinct facies, intellectual disability, and supravalvar aortic stenosis. Those with WBS have an increased risk of sudden death, but mechanisms underlying this phenotype are incompletely understood.
The aim of this study was to quantify and compare autonomic activity as reflected by heart rate variability (HRV) measures in a cohort of individuals with WBS (n = 18) and age- and sex-matched control subjects (n = 18).
We performed HRV analysis on 24-hour electrocardiography recordings using nonlinear, time and frequency domain analyses on a cohort of subjects with WBS and age- and sex-matched control subjects enrolled in a prospective cross-sectional study designed to characterize WBS disease natural history.
WBS subjects demonstrated diminished HRV (reflected by the SD of the NN intervals [P = 0.0001], SD of the average NN interval for 5-minute intervals over 24 hours [P < 0.0001], average of the 5-minute SDs of NN intervals for 24 hours [P = 0.0002], root mean square of successive differences of NN intervals [P = 0.0004], short axis of the Poincaré plot (SD1) [P < 0.0001], and long axis of the Poincaré plot [P < 0.0001]) and indirect markers of parasympathetic activity (reflected by the percent of NN intervals different from previous by 50% or more of local average [P < 0.0007], root mean square of successive differences of NN intervals [P = 0.0004], natural log high-frequency power [P = 0.0038], and SD1 [P < 0.0001]). Additional parameters were also significantly different, including natural log very low-frequency power (decreased; P = 0.0002), natural log low-frequency power (decreased; P = 0.0024), and SD1 divided by the long axis of the Poincaré plot (decreased; P < 0.0001).
Individuals with WBS demonstrate significant HRV abnormalities consistent with diminished autonomic reserve. Future studies will be needed to determine the relationship between autonomic dysregulation observed and sudden death risk seen in these patients. (Impact of Elastin Mediated Vascular Stiffness on End Organs; NCT02840448).
The aim of this study was to quantify and compare autonomic activity as reflected by heart rate variability (HRV) measures in a cohort of individuals with WBS (n = 18) and age- and sex-matched control subjects (n = 18).
We performed HRV analysis on 24-hour electrocardiography recordings using nonlinear, time and frequency domain analyses on a cohort of subjects with WBS and age- and sex-matched control subjects enrolled in a prospective cross-sectional study designed to characterize WBS disease natural history.
WBS subjects demonstrated diminished HRV (reflected by the SD of the NN intervals [P = 0.0001], SD of the average NN interval for 5-minute intervals over 24 hours [P < 0.0001], average of the 5-minute SDs of NN intervals for 24 hours [P = 0.0002], root mean square of successive differences of NN intervals [P = 0.0004], short axis of the Poincaré plot (SD1) [P < 0.0001], and long axis of the Poincaré plot [P < 0.0001]) and indirect markers of parasympathetic activity (reflected by the percent of NN intervals different from previous by 50% or more of local average [P < 0.0007], root mean square of successive differences of NN intervals [P = 0.0004], natural log high-frequency power [P = 0.0038], and SD1 [P < 0.0001]). Additional parameters were also significantly different, including natural log very low-frequency power (decreased; P = 0.0002), natural log low-frequency power (decreased; P = 0.0024), and SD1 divided by the long axis of the Poincaré plot (decreased; P < 0.0001).
Individuals with WBS demonstrate significant HRV abnormalities consistent with diminished autonomic reserve. Future studies will be needed to determine the relationship between autonomic dysregulation observed and sudden death risk seen in these patients. (Impact of Elastin Mediated Vascular Stiffness on End Organs; NCT02840448).
摘要：
背景：Williams-Beuren综合征（WBS）（男性在线孟德尔遗传＃194050）是一种罕见的遗传性多系统疾病，由7q11.23染色体微缺失引起。这种情况的特征是不同的相，智力残疾,主动脉瓣上狭窄.患有WBS的人猝死的风险增加，但这种表型的潜在机制尚不完全清楚。
目的：本研究的目的是量化和比较一组WBS患者（n=18）和年龄和性别匹配的对照受试者（n=18）的心率变异性（HRV）测量所反映的自主神经活动。
方法：我们使用非线性，在一项旨在表征WBS疾病自然史的前瞻性横断面研究中,对一组WBS受试者和年龄和性别匹配的对照受试者进行了时域和频域分析.
结果：WBS受试者表现出HRV降低（反映为NN间隔的SD[P=0.0001]，24小时内5分钟间隔的平均NN间隔的SD[P<0.0001]，神经网络间隔24小时的5分钟SD平均值[P=0.0002]，神经网络间隔连续差的均方根[P=0.0004]，庞加莱图的短轴(SD1)[P<0.0001]，和庞加莱图的长轴[P<0.0001]）和副交感神经活动的间接标记（反映为与先前的局部平均值的50％或更多的NN间隔百分比[P<0.0007]，神经网络间隔连续差的均方根[P=0.0004]，自然对数高频功率[P=0.0038]，和SD1[P<0.0001])。其他参数也有明显不同，包括自然对数极低频功率(降低；P=0.0002)，自然对数低频功率(下降；P=0.0024)，和SD1除以庞加莱图的长轴（下降；P<0.0001）。
结论：WBS患者表现出显著的HRV异常，与自主神经储备减少相一致。需要进一步的研究来确定在这些患者中观察到的自主神经失调与猝死风险之间的关系。(弹性蛋白介导的血管刚度对末端器官的影响;NCT02840448)。
目的：本研究的目的是量化和比较一组WBS患者（n=18）和年龄和性别匹配的对照受试者（n=18）的心率变异性（HRV）测量所反映的自主神经活动。
方法：我们使用非线性，在一项旨在表征WBS疾病自然史的前瞻性横断面研究中,对一组WBS受试者和年龄和性别匹配的对照受试者进行了时域和频域分析.
结果：WBS受试者表现出HRV降低（反映为NN间隔的SD[P=0.0001]，24小时内5分钟间隔的平均NN间隔的SD[P<0.0001]，神经网络间隔24小时的5分钟SD平均值[P=0.0002]，神经网络间隔连续差的均方根[P=0.0004]，庞加莱图的短轴(SD1)[P<0.0001]，和庞加莱图的长轴[P<0.0001]）和副交感神经活动的间接标记（反映为与先前的局部平均值的50％或更多的NN间隔百分比[P<0.0007]，神经网络间隔连续差的均方根[P=0.0004]，自然对数高频功率[P=0.0038]，和SD1[P<0.0001])。其他参数也有明显不同，包括自然对数极低频功率(降低；P=0.0002)，自然对数低频功率(下降；P=0.0024)，和SD1除以庞加莱图的长轴（下降；P<0.0001）。
结论：WBS患者表现出显著的HRV异常，与自主神经储备减少相一致。需要进一步的研究来确定在这些患者中观察到的自主神经失调与猝死风险之间的关系。(弹性蛋白介导的血管刚度对末端器官的影响;NCT02840448)。
