肢带型肌营养不良症 R9 相关的心肌病变，FKRP 相关。
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
机构信息
Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.
出版信息
Muscle Nerve. 2020 Nov;62(5):626-632. doi: 10.1002/mus.27052. Epub 2020 Sep 10.
INTRODUCTION
Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort.
METHODS
Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated.
RESULTS
Twenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P < .0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08).
DISCUSSION
Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.
简介
肢带型肌营养不良症 R9（LGMDR9）相关的心肌病报告频率存在差异。我们描述了 LGMDR9 患者群中心肌病的发病频率和发病年龄。
方法
回顾性分析了 56 名 LGMDR9 患者（157 次超声心动图）的超声心动图。通过生存分析对间隔截尾数据进行基因型分析，评估作为年龄函数的异常超声心动图的累积概率。评估了心脏和临床功能之间的相关性。
结果
25 名（45%）参与者患有心肌病。c.826C>A 变异纯合子患者首次出现异常超声心动图的中位年龄为 54.2 岁，而所有其他 FKRP 基因型的患者为 18.1 岁（P<0.0001）。射血分数与 10 米步行测试速度之间存在弱相关性（r=0.25），但与用力肺活量之间无相关性（r=0.08）。
讨论
肢带型肌营养不良症 R9 患者中心肌病很常见，且 c.826C>A 突变的纯合子患者发病较晚。这些数据将有助于指导监测和管理。
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