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| CASE REPORT |
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| Year : 2022 | Volume
: 12
| Issue : 1 | Page : 53-55 |
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Anaesthetic considerations for the parturient with myogenic differentiation-1 gene-related congenital myopathy and pre-eclampsia: A case report
Hafiza B Misran, David W Hoppe, Andrew J Colls, Yayoi Ohashi
Department of Anaesthesia and Pain Medicine, Fiona Stanley Hospital, Perth, Western Australia, Australia
| Date of Submission | 16-Aug-2021 |
| Date of Acceptance | 29-Aug-2021 |
| Date of Web Publication | 14-Mar-2022 |
Correspondence Address:
Dr. Hafiza B Misran
Department of Anaesthesia and Pain Medicine, Fiona Stanley Hospital, 11 Robin Warren Drive, Murdoch WA 6150
Australia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/JOACC.JOACC_71_21
We present the anaesthetic management of a parturient with myogenic differentiation-1 gene-related congenital myopathy who presented for urgent caesarean section due to pre-eclampsia and respiratory failure. The challenges we faced include chronic respiratory failure with diaphragmatic dysfunction, difficulties with neuraxial anaesthesia, potential risk of triggering malignant hyperthermia in an unknown myopathy, and the complexities of multidisciplinary team involvement. As there is limited medical literature regarding this condition, we believe this is the first case report describing the anaesthetic care of a pregnant patient with this rare congenital myopathy.
Keywords: Congenital myopathy, obstetric anaesthesia, pre-eclampsia
How to cite this article:
Misran HB, Hoppe DW, Colls AJ, Ohashi Y. Anaesthetic considerations for the parturient with myogenic differentiation-1 gene-related congenital myopathy and pre-eclampsia: A case report. J Obstet Anaesth Crit Care 2022;12:53-5 |
How to cite this URL:
Misran HB, Hoppe DW, Colls AJ, Ohashi Y. Anaesthetic considerations for the parturient with myogenic differentiation-1 gene-related congenital myopathy and pre-eclampsia: A case report. J Obstet Anaesth Crit Care [serial online] 2022 [cited 2022 Jul 2];12:53-5. Available from: https://www.joacc.com/text.asp?2022/12/1/53/339547 |
| Introduction | |  |
Myogenic differentiation-1 (MYOD1) gene-related myopathy is a novel cause of congenital myopathy[1],[2],[3] that presents unique challenges to anaesthetic management. The myogenic factor MyoD is a transcription factor expressed on skeletal muscle and is encoded by the MYOD1 gene.[4] MyoD is pivotal for diaphragmatic and pulmonary development and differentiation of skeletal muscle.[4]
MYOD1 gene-related myopathy was first linked to a human disease phenotype in 2016 by examining the genome of siblings with foetal akinesia from a consanguineous marriage.[1] The condition has since been described among children in India[2] and Canada.[3] Phenotypic features include muscle weakness, diaphragmatic dysfunction, pulmonary hypoplasia, triangular facies, cleft deformities, and arthrogryposis.[1],[2],[3]
There are no case reports of the MYOD1 gene mutation in adults. We present the first case describing the perioperative care of an obstetric patient with MYOD1 gene-related myopathy and pre-eclampsia for urgent caesarean section (CS).
| Case Report | | |
A 39-year-old primiparous woman was referred to our centre at 30 weeks gestation with pre-eclampsia and dyspnoea. History included a chronic myopathy of unknown origin. Electromyography at the time showed mild proximal myopathy with no spontaneous activity in the lower thoracic muscles. Genetic testing excluded myotonic dystrophy and mitochondrial disorders.
Her history also included chronic hypercapnoic respiratory failure, resulting from a combination of myopathy, kyphoscoliosis, sleep hypoventilation, and restrictive lung disease. Pulmonary function tests (PFT) performed 3 years prior showed a forced vital capacity (FVC) of 1.13 L (43% predicted) and forced expiratory volume in 1 s of 0.92 L (41% predicted). Sleep studies demonstrated severe sleep disordered breathing and a trial of nocturnal bi-level positive airway pressure (BIPAP) ventilation was conducted. Her mother suffered from ptosis, and her parents were from a consanguineous marriage.
On examination, she had short stature, distinct facies with a short thyromental distance, ptosis and kyphoscoliosis. Laboured respiration with desaturation to 90% was observed when reclining to 45°. Neurological examination demonstrated mild proximal upper limb weakness.
A multidisciplinary team meeting with obstetricians, anaesthetists, midwives, neonatologists, and intensivists was held. CS was planned the next day at 31 weeks gestation, due to worsening liver function from pre-eclampsia and deteriorating respiratory function from a gravid uterus. Delaying delivery to allow foetal maturation was considered. However, the argument against this included: 1) concerns about progression to HELLP syndrome, 2) avoidance of magnesium for pre-eclampsia which may exacerbate muscle weakness, 3) performing out-of-hours emergency surgery, and 4) requirement for high-dependency unit (HDU) care to manage respiratory failure post-operatively. Whether the infant would inherit her myopathy was unknown, and the neonatal intensive care unit (NICU) was suitably prepared. Vaginal delivery was considered, although there was unease about her ability to compensate for the respiratory demands of labour.
Anaesthesia concerns include the potential for difficult airway, given her distinct facies, and risk of unsuccessful extubation due to poor lung function. Whether the myopathy could trigger malignant hyperthermia (MH) was unknown. Neuraxial anaesthesia was considered the most appropriate choice. She commenced a trial of BIPAP to ensure correct mask fitting and familiarity, which was used intra- and post-operatively to supplement her respiratory efforts. [Figure 1] demonstrates the clinical decision-making involved. | Figure 1: Diagram of clinical decision-making during the multidisciplinary team meeting, describing arguments for and against each intervention
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CS was conducted under combined spinal-epidural anaesthesia with an arterial line and standard monitoring. Lumbar spine ultrasonography helped localize the L3/4 interspace. Spinal anaesthesia dose included 10 mg hyperbaric bupivacaine, 10 μg fentanyl and 75 μg morphine. Block height of only T12 was achieved after 10 min, because the patient remained semi-recumbent due to dyspnoea when reclining. Two epidural top-ups were given using 100 mg lidocaine with 5 μg/ml adrenaline to achieve a sensory block at T4 bilaterally. BIPAP was subsequently initiated and continued throughout surgery. Arterial blood gas (ABG) analysis revealed respiratory alkalosis.
A live infant weighing 1.58 kg was delivered. Apgar scores were seven at 1 and 5 min. The infant was transferred to NICU, requiring non-invasive ventilation for apnoea of prematurity. Surgery proceeded without complication. In HDU, she was weaned to high-flow nasal oxygen during the daytime and BIPAP nocturnally. She was transferred to the ward 48 h later and discharged home day 12.
Following discharge, she was fitted for a home BIPAP machine. Repeat PFT showed a 53% reduction in FVC from standing to supine positions, indicating diaphragmatic dysfunction. Pyridostigmine test excluded myasthenia gravis. Neurogenetic testing confirmed a diagnosis of MYOD1 gene mutation causing a congenital myopathy.
| Discussion | | |
Literature relating to anaesthesia for obstetric patients with congenital myopathy is gathered largely from case reports and expert opinion. A study of 21 parturients showed no increased risk of adverse outcomes or CS compared to the general population.[5] One patient developed pre-eclampsia and delivered spontaneously.[6] Labour epidurals,[7] neuraxial anaesthesia,[8] and general anaesthesia[9] for CS in this cohort have been described with good outcomes, but none with MYOD1 gene-related myopathy.
We concluded that neuraxial anaesthesia with non-invasive ventilation was the safest approach. Apart from limiting atelectasis, it avoids the sedative effects of systemic opioids and general anaesthesia. It avoids muscle relaxation, which can be difficult to dose-adjust in this cohort due to increased sensitivity.[10] Nemaline myopathy and central core disease are linked to MH susceptibility, but MYOD1 gene mutations are unknown.[10] We followed local guidelines and planned to use total intravenous anaesthesia if general anaesthesia was required.
Risks with neuraxial blockade include high spinal anaesthesia, which reduces functional residual capacity, exacerbating respiratory failure. Intrathecal morphine can cause respiratory depression; however, we mitigated this by reducing our usual morphine dose. Neuraxial technique can be challenging in patients with skeletal deformities.[10] Expertise in lumbar spine ultrasound was crucial to our success.
Using BIPAP intraoperatively was pivotal in preventing respiratory failure, and her intraoperative ABG supported this. However, non-invasive ventilation in parturients poses an aspiration risk. General anaesthesia with a secure airway would resolve this issue, but the ability to extubate successfully was a concern. [Table 1] illustrates the learning points.
This case report highlights perioperative considerations of a parturient with MYOD1 gene-related congenital myopathy and pre-eclampsia presenting for urgent CS. This report aims to contribute to the understanding of this rare condition in the obstetric population.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, et al. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. J Med Genet 2016;53:264-9.  |
| 2. | Lopes F, Miguet M, Mucha BE, Gauthier J, Saillour V, Nguyen CT, et al. MYOD1 involvement in myopathy. Eur J Neurol 2018;25:e123-4. |
| 3. | Shukla A, Narayanan DL, Asher U, Girisha KM. A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy. Clin Genet 2019;96:276-7. |
| 4. | Berkes CA, Tapscott SJ. MyoD and the transcriptional control of myogenesis. Semin Cell Dev Biol 2005;16:585-95. |
| 5. | Rudnik-Schoneborn S, Wallgren-Pettersson C. Pregnancy and delivery in women with congenital myopathies. Semin Pediatr Neurol 2019;29:23-9. |
| 6. | Awater C, Zerres K, Rudnik-Schoneborn S. Pregnancy course and outcome in women with hereditary neuromuscular disorders: Comparison of obstetric risks in 178 patients. Eur J Obstet Gynecol Reprod Biol 2012;162:153-9. |
| 7. | Klaska C, Gonik B. Obstetric outcome in a primigravid patient with autosomal-recessive multiminicore myopathy. Obstet Gynecol 2014;123:438-40. |
| 8. | Waikar PV, Wadsworth R. A patient with severe central core disease. Br J Anaesth 2008;101:284. |
| 9. | Foster RN, Boothroyd KP. Caesarean section in a complicated case of central core disease. Anaesthesia 2008;63:544-7. |
| 10. | Schieren M, Defosse J, Bohmer A, Wappler F, Gerbershagen MU. Anaesthetic management of patients with myopathies. Eur J Anaesthesiol 2017;34:1-9. |
[Figure 1]
[Table 1]
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