PDF(Pubmed)
Abstract：
UNASSIGNED: Ryanodine receptor 1 (RYR1)-related myopathies are a group of congenital muscle diseases caused by RYR1 mutations. These mutations may cause centronuclear myopathy, a congenital neuromuscular disorder characterized by clinical muscle weakness and pathological presence of centrally placed nuclei on muscle biopsy. Mutations in RYR2 cause ventricular arrhythmias that can be treated with flecainide; however, reports of ventricular arrhythmias in RYR1-related myopathies are rare. Herein we report a case of centronuclear myopathy with RYR1 mutations who exhibited frequent premature ventricular contractions (PVCs) and non-sustained ventricular tachycardia (NSVT), which was successfully treated with verapamil and flecainide.
UNASSIGNED: At 7 months, the patient presented neurological manifestations of hypotonia and delayed motor development. A skeletal muscle biopsy performed at age 4 years led to the diagnosis of centronuclear myopathy. At age 15 years, frequent PVCs and NSVT were identified on the electrocardiogram and 24 h Holter monitoring. Treatment with verapamil was initiated; however, it was not beneficial. Therefore, flecainide was added to the treatment, decreasing the frequency of PVCs and NSVT. Non-sustained ventricular tachycardia disappeared at the age of 21, and PVCs almost disappeared at the age of 22. Genetic testing revealed c.13216delG (p.E4406Rfs*35), c.14874G>C (p.K4958N), and c.9892G>A (p.A3298T) in RYR1, and the compound heterozygosity of variants was confirmed by analysis of the parents.
UNASSIGNED: This is the first report of ventricular arrhythmia associated with RYR1-related myopathy that was successfully treated with verapamil and flecainide. The combination of verapamil and flecainide may be a useful treatment option for ventricular arrhythmias in patients with RYR1-related myopathies.
UNASSIGNED: At 7 months, the patient presented neurological manifestations of hypotonia and delayed motor development. A skeletal muscle biopsy performed at age 4 years led to the diagnosis of centronuclear myopathy. At age 15 years, frequent PVCs and NSVT were identified on the electrocardiogram and 24 h Holter monitoring. Treatment with verapamil was initiated; however, it was not beneficial. Therefore, flecainide was added to the treatment, decreasing the frequency of PVCs and NSVT. Non-sustained ventricular tachycardia disappeared at the age of 21, and PVCs almost disappeared at the age of 22. Genetic testing revealed c.13216delG (p.E4406Rfs*35), c.14874G>C (p.K4958N), and c.9892G>A (p.A3298T) in RYR1, and the compound heterozygosity of variants was confirmed by analysis of the parents.
UNASSIGNED: This is the first report of ventricular arrhythmia associated with RYR1-related myopathy that was successfully treated with verapamil and flecainide. The combination of verapamil and flecainide may be a useful treatment option for ventricular arrhythmias in patients with RYR1-related myopathies.
摘要：
■与Ryanodine受体1（RYR1）相关的肌病是一组由RYR1突变引起的先天性肌肉疾病。这些突变可能导致中央核肌病，一种先天性神经肌肉疾病，其特征是临床肌肉无力和肌肉活检中出现中央核。RYR2的突变引起室性心律失常，可以用氟卡尼治疗；然而，RYR1相关肌病的室性心律失常的报告很少见.在这里，我们报告了一例具有RYR1突变的中央核肌病，表现出频繁的室性早搏（PVC）和非持续性室性心动过速（NSVT），用维拉帕米和氟卡尼成功治疗。
■在7个月时，患者表现为张力减退和运动发育迟缓的神经系统表现。4岁时进行的骨骼肌活检可诊断为中央核肌病。15岁时,在心电图和24hHolter监测中发现频繁的PVC和NSVT。开始使用维拉帕米治疗；然而，这没有好处。因此,氟卡尼被添加到治疗中，降低PVC和NSVT的频率。非持续性室性心动过速在21岁时消失，而PVC在22岁时几乎消失。基因检测显示c.13216delG（p。E4406Rfs*35),c.14874G>C（p。K4958N),和c.9892G>A（p。RYR1中的A3298T），并且通过对亲本的分析证实了变体的复合杂合性。
■这是与RYR1相关肌病相关的室性心律失常的第一份报告，该报告已成功使用维拉帕米和氟卡尼治疗。维拉帕米和氟卡尼的组合可能是RYR1相关肌病患者室性心律失常的有用治疗选择。
■在7个月时，患者表现为张力减退和运动发育迟缓的神经系统表现。4岁时进行的骨骼肌活检可诊断为中央核肌病。15岁时,在心电图和24hHolter监测中发现频繁的PVC和NSVT。开始使用维拉帕米治疗；然而，这没有好处。因此,氟卡尼被添加到治疗中，降低PVC和NSVT的频率。非持续性室性心动过速在21岁时消失，而PVC在22岁时几乎消失。基因检测显示c.13216delG（p。E4406Rfs*35),c.14874G>C（p。K4958N),和c.9892G>A（p。RYR1中的A3298T），并且通过对亲本的分析证实了变体的复合杂合性。
■这是与RYR1相关肌病相关的室性心律失常的第一份报告，该报告已成功使用维拉帕米和氟卡尼治疗。维拉帕米和氟卡尼的组合可能是RYR1相关肌病患者室性心律失常的有用治疗选择。
