191 posters, 5 topics, 20 sessions, 393 authors, 116 institutions
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Obstetric Anaesthesia Annual Scientific Meeting 2023
18 - 19 May, 2023 | EICC Edinburgh
5799125
Delivery challenges of Bethlem myopathy, a rare congenital muscular dystrophy
Part of Topic
Case report
Delivery challenges of Bethlem myopathy, a rare congenital muscular dystrophy
Mann E1, Paterson S2, Burns R3
Simpson Centre for Reproductive Health, Edinburgh
1. ST4 anaesthetics 2. Dual trainee in anaesthetics and intensive care medicine 3. Consultant anaesthetist, Royal Infirmary of Edinburgh, Honorary Senior Lecturer, University of Edinburgh
Introduction
•Bethlem myopathy (BM) is a rare, autosomal dominant inherited muscular dystrophy.
•It is slowly progressive with hypotonia in the first or second decade, joint abnormalities and more rarely respiratory and/or cardiac involvement. [1]
•Information regarding the anaesthetic management during pregnancy and delivery is limited. We present the case of a primigravida.
Case report
•A 30 year old primigravida was seen in the specialist obstetric anaesthesia clinic at 33 weeks gestation and a history of BM was noted.
•The patient's baseline functioning was walking with a “waddling gait” and climbing stairs slowly due to upper leg weakness.
•Her sleep study revealed a mean Sp02 90% with lowest recorded 72%, uncovering occult nocturnal hypoventilation. Overnight non-invasive ventilation (NIV) was established to optimise oxygen delivery to the baby as the pregnancy progressed.
•Lying FEV1 and FVC were 46% and 43% of predicted. (Pre-pregnancy 84% and 86% respectively). Her FVC dropped by 13% on lying down indicating diaphragmatic impairment. Her ECHO was normal.
•A significant scoliosis was noted on examination, and the spinous processes in the lumbar region were very difficult to feel.
•An early epidural was recommended and the increased risk of an inadequate block with severe scoliosis was discussed.
•For operative delivery a slow epidural top-up was planned if the labour epidural was working bilaterally. Alternatively a low dose spinal CSE or general anaesthetic if the patient was unable to lie flat or bilateral block was not achieved.
•Full dose spinal was thought to be contraindicated due to loss of intercostal muscle function.
•She was admitted at 38+4 weeks for induction of labour and had an epidural inserted by a consultant anaesthetist in theatre under ultrasound guidance. This was maintained via patient controlled epidural and gave a bilateral block with no impact on respiratory function.
•Subsequently a decision was made to perform a caesarean section due to a pathological CTG.
•The epidural topped up with 15mls of 2% lidnocaine with 1:200,000 adrenaline and 100 mcg fentanyl resulting in a good block for delivery.
•She had a further 4mls of 0.5% levobupivacaine and 2mg morphine via the epidural catheter towards the end of the procedure.
•She was cared for in labour ward HDU and discharged home 36 hours later.
•Respiratory review four months after delivery notes discontinuation of NIV.
Discussion
•This was a challenging case due to limited data on the management of BM in pregnancy.
•There were two case reports available – in one the patient required a wheelchair from 35 weeks gestation and went on to have a vacuum extraction delivery at 38 weeks with return to pre-pregnancy functional state afterwards. The other described a patient with deterioration in left ventricular function necessitating delivery at 36+2 weeks via caesarean birth and resolution of echocardiographic findings postnatally.
•Neither case comments on the anaesthetic management.
•The principles of management involved are a multi-disciplinary approach and optimisation of patient condition in the antenatal period.
•The effective early epidural together with the lack of respiratory decompensation in labour were key in allowing a safe epidural top up in theatre.
References
1.Nunes C, Barros J, Centeno M, et al. Bethlem myopathy: pregnancy and delivery. Arch Gynecol Obstet.2014 Jan; 289(1):219-20
2.Flöck A, Kornblum C, Hammerstingl C, et al. Progressive cardiac dysfunction in Bethlem myopathy during pregnancy. Obstet gynecol. 2014 Feb; 123(2 Pt 2 Suppl 2):436-438