Abstract

Introduction

Congenital Central Hypoventilation Syndrome (CCHS) is a genetic disorder that results in the loss of autonomic ventilatory control, and patients require ventilatory support during sleep or both sleep and wakefulness. One method of ventilatory support is diaphragm pacing (DP), where electrodes surgically placed on the phrenic nerve are connected to subcutaneously implanted receivers that communicate with external antennas and transmitter. There are limited data on the frequency of DP malfunctions that require surgical revision.

Methods

We reviewed the records of 24 CCHS patients ventilated by DP followed at CHLA from 1990-2019. Records were examined for demographics, PHOX2B mutation, pacing duration/day, date and type of malfunctions, age and time since implantation at malfunction occurrence, and repair success rate.

Results

All 24 patients had thoracoscopic electrode placement. 17/24 (71%) of patients used DP while asleep; 3/24 (13%) during wakefulness only. 4/24 (17%) were not currently using their pacers. 10/24 (42%) patients required at least one surgical intervention (Age at implantation 9 ± 4.6 (SD) years; age at malfunction 12.5 ± 7.4 years). The average time from pacer implantation to malfunction was 3.8 ± 3.5 years. Malfunctions included defective receivers (6), insulation leaks (1), defective electrodes (4), and hardware infection (1). Of 12 unique component repairs, 6/12 (50%) involved changing receivers, 1/12 (8%) involved repairing an insulation leak, 4/12 (33%) involved replacing the electrodes and receivers, and 1/12 (8%) involved hardware extraction. Of the 12 malfunctions, 10 (83%) had successful surgical revision. 2/12 (17%) repairs were not attempted. While awaiting surgical revision, patients were successfully ventilated by unilateral DP.

Conclusion

Nearly half of CCHS patients on DP experienced malfunctions within 11 years of implantation. The most common DP repair was receiver replacement. Patients who are waiting for repair often successfully ventilate while pacing unilaterally.

Support

None

中文翻译：

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0887 HS肌起搏器功能不全，需要CCHS患者进行手术修复

摘要

介绍

先天性中枢性通气不足综合症（CCHS）是一种遗传性疾病，导致丧失自主呼吸控制，患者在睡眠期间或睡眠和清醒时都需要呼吸支持。呼吸支持的一种方法是隔膜起搏（DP），其中将手术放置在the神经上的电极连接到与外部天线和发射器进行通信的皮下植入接收器。有关DP发生故障的频率的数据有限，需要进行手术修订。

方法

我们回顾了1990-2019年在CHLA随访的24例由DP进行通气的CCHS患者的记录。检查记录以了解人口统计学，PHOX2B突变，起搏持续时间/天，发生故障的日期和类型，发生故障后植入的年龄和时间以及修复成功率。

结果

所有24例患者均进行了胸腔镜电极放置。17/24（71％）患者在睡眠时使用DP；仅在清醒时为3/24（13％）。4/24（17％）当前未使用其起搏器。10/24（42％）患者需要至少一次外科手术（植入时的年龄9±4.6（SD）岁；发生故障的年龄12.5±7.4岁）。从起搏器植入到出现故障的平均时间为3.8±3.5年。故障包括接收器故障（6），绝缘泄漏（1），电极故障（4）和硬件感染（1）。在12次独特的组件维修中，6/12（50％）涉及更换接收器，1/12（8％）涉及修复绝缘泄漏，4/12（33％）涉及更换电极和接收器，以及1/12（8 ％）涉及硬件提取。在12例故障中，有10例（83％）手术成功。未尝试进行2/12（17％）维修。在等待手术翻修时，患者通过单侧DP成功通​​气。

结论

植入DP的CCHS患者中，近一半在植入后的11年内出现了故障。最常见的DP维修是更换接收器。等待修复的患者通常在单侧起搏时成功通气。

支持

没有