Morélot-Panzini Capucine, Gonzalez-Bermejo Jesus, Straus Christian, Similowski Thomas
Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Service de Pneumologie et Réanimation Médicale, Paris, France.
Int J Artif Organs. 2013 Jun 25;36(6):434-8. doi: 10.5301/ijao.5000197. Epub 2013 May 8.
Patients with the congenital central hypoventilation syndrome (CCHS) suffer from life-threatening hypoventilation when asleep, making them dependent on mechanical ventilation (MV) at night or during naps. State-of-art respiratory management consists of intermittent positive-pressure ventilation via a tracheotomy or mask. In some patients hypoventilation is permanent, in which case ventilatory support must be extended to the waking hours. Diaphragm pacing can prove useful in such situations.
This report describes the case of a 26-year-old woman with CCHS in whom failure to achieve adequate MV led to life-threatening pulmonary hypertension (PH), with a systolic pulmonary artery pressure (PAP) of 80 mmHg and right ventricular hypertrophy, despite optimization of all possible measures and despite extensive therapeutic education efforts. Diaphragm pacing using laparoscopically implanted intradiaphragmatic phrenic nerve stimulation electrodes corrected alveolar hypoventilation and lastingly reversed PH (systolic PAP below 40 mmHg after 2 months, sustained after 2 years). Diaphragm pacing induced shoulder pain, however, involving the chronic use of analgesics. The pacing had to be stopped for tolerance reasons after two years, leading to PH worsening and the need for diurnal MV.
Diaphragm pacing appears likely effective to restore alveolar ventilation and reverse PH in adult CCHS patients.
先天性中枢性低通气综合征（CCHS）患者在睡眠时会出现危及生命的通气不足，这使得他们在夜间或午睡时依赖机械通气（MV）。目前最先进的呼吸管理方法包括通过气管切开术或面罩进行间歇性正压通气。在一些患者中，通气不足是永久性的，在这种情况下，通气支持必须延长至清醒时间。膈肌起搏在这种情况下可能会有用。
本报告描述了一名26岁CCHS女性患者的病例，尽管采取了所有可能的措施并进行了广泛的治疗教育努力，但未能实现充分的MV导致了危及生命的肺动脉高压（PH），收缩期肺动脉压（PAP）达80 mmHg且伴有右心室肥厚。使用腹腔镜植入的膈内膈神经刺激电极进行膈肌起搏纠正了肺泡通气不足，并持久地逆转了PH（2个月后收缩期PAP降至40 mmHg以下，2年后仍维持）。然而，膈肌起搏引起了肩部疼痛，需要长期使用镇痛药。两年后，由于耐受性原因不得不停止起搏，导致PH恶化，需要日间MV。
膈肌起搏似乎对恢复成年CCHS患者的肺泡通气和逆转PH有效。
