患者的心脏异常Hutchinson-Gilford早衰症综合征。

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普拉卡什,戈登磅,Kleinman我Gurary EB,马萨罗J R Sr,达基兰MW, Gerhard-Herman M,斯穆特L

患者的心脏异常Hutchinson-Gilford早衰症综合征。

JAMA心功能杂志。2018年4月1;3 (4):326 - 334。doi: 10.1001 / jamacardio.2017.5235。

PubMed ID

29466530 (在PubMed

]

文摘

重要性:Hutchinson-Gilford早衰症综合征(hgp)是一种ultrarare疾病与过早死亡由于心血管事件在第二个十年的生活。然而,由于其稀有(107确认病人生活),心脏疾病仍无特征的自然历史。因此,有意义的心脏终点的临床试验难以建立。目的:检查外观的过程中患者的心脏异常的计画来识别有意义的心脏终点用于未来的临床试验。设计、设置和参与者:在这个前瞻性,横断面,观察性研究中,连续27患者临床和基因确认经典计画在一个中心进行评估1访问从7月1日,2014年,2月29日,2016年,开始治疗前。曝光:经典的计画。主要结果和措施:使用超声心动图评估心室和瓣膜功能使用标准技术。舒张期左心室(LV)函数评估使用组织多普勒成像。以前公布的规范数据被用来调整发现年龄和体型。结果:本研究包括27名患者(平均年龄5.6岁; age range, 2-17 years; 15 [56%] male). Among echocardiographic indicators, LV diastolic dysfunction, defined as a tissue Doppler septal or lateral early velocity z score less than -2, was the most prevalent abnormality, seen in 16 patients (59%). Diastolic dysfunction was seen in all age groups, and its prevalence increased with age, mirroring findings seen during normal aging. Indicators of LV diastolic function were more abnormal in older patients. The z scores for lateral and septal early velocities were lower (r = -0.77, P < .001; and r = -0.66, P < .001, respectively), whereas those for the ratio of early mitral inflow velocity to early diastolic tissue Doppler myocardial velocity were higher (r = 0.80, P < .001; and r = 0.72, P < .001, respectively) in older patients. Other echocardiographic findings, including LV hypertrophy, LV systolic dysfunction, and valve disease, were less prevalent in the first decade and were seen more frequently in the second decade. Conclusions and Relevance: In this largest-to-date cohort of patients with HGPS, LV diastolic dysfunction was the most prevalent echocardiographic abnormality and its prevalence increased with aging. Echocardiographic indicators of LV diastolic function may be useful end points in future clinical trials in this patient population.

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