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Chapter 4

170. Bose, D., Yentis, M. & Fauvel, N. J. Caesarean section in a parturient with 184. Chen, M. L. & Keens, T. G. Congenital central hypoventilation syndrome:
respiratory failure caused by cystic fibrosis. Anaesthesia 1997; 52: 578“82. not just another rare disorder. Paediatr. Resp. Rev. 2004; 5: 182“9.
171. Sahn, S. A. & Heffner, J. E. Spontaneous pneumothorax. N. Engl. J. Med. 185. Paton, J. Y., Swaminathan, S., Sargent, C. W. & Keens, T. G. Hypoxic and
2000; 342: 868“74. hypercapnic ventilatory responses in awake children with congenital
172. Van Winter, J. T., Nichols, F. C., 3rd, Pairolero, P. C., Ney, J. A. & Ogburn, central hypoventilation syndrome. Am. Rev. Respir. Dis. 1989; 140:
P. L., Jr. Management of spontaneous pneumothorax during pregnancy: 368“72.
case report and review of the literature. Mayo Clin. Proc. 1996; 71: 249“52. 186. Marazita, M. L., Maher, B. S., Cooper, M. E. et al. Genetic segregation
173. Harris, E. A. Tension pneumothorax in a parturient undergoing cesarean analysis of autonomic nervous system dysfunction in families of probands
delivery. Anesth. Analg. 2000; 90: 1173“4. with idiopathic congenital central hypoventilation syndrome. Am. J. Med.
174. Noppen, M., Alexander, P., Driesen, P., Slabbynck, H. & Verstraeten, A. Genet. 2001; 100: 229“36.
Manual aspiration versus chest tube drainage in first episodes of primary 187. Weese-Mayer, D. E., Silvestri, J. M., Huffman, A. D. et al. Case/control
spontaneous pneumothorax: a multicenter, prospective, randomized pilot family study of autonomic nervous system dysfunction in idiopathic con-
study. Am. J. Respir. Crit. Care Med. 2002; 165: 1240“4. genital central hypoventilation syndrome. Am. J. Med. Genet. 2001; 100:
175. Devanand, A., Koh, M. S., Ong, T. H. et al. Simple aspiration versus chest- 237“45.
tube insertion in the management of primary spontaneous pneu- 188. Sritippayawan, S., Hamutcu, R., Kun, S. S. et al. Mother“daughter trans-
mothorax: a systematic review. Respir. Med. 2004; 98: 579“90. mission of congenital central hypoventilation syndrome. Am. J. Respir.
176. Hwong, T. M., Ng, C. S., Lee, T. W. et al. Video-assisted thoracic surgery for Crit. Care Med. 2002; 166: 367“9.
primary spontaneous hemopneumothorax. Eur. J. Cardiothorac. Surg. 2004; 189. McLoughlin, L., Thomas, G. & Hasan, K. Pregnancy and lymphangioleio-
26: 893“6. myomatosis: anesthetic management. Int. J. Obstet. Anesth. 2003; 12:
177. Seaton, D., Yoganathan, K., Coady, T. & Barker R. Spontaneous pneu- 40“4.
mothorax: marker gas technique for predicting outcome of manual aspira- 190. Taylor, J. R., Ryu, J., Colby, T. V. & Raffin, T. Lymphangioleiomyomatosis.
tion. B.M.J. 1991; 302: 262“5. Clinical course in 32 patients. N. Engl. J. Med. 1990; 323: 1254“60.
178. Reid, C. J. & Burgin, G. A. Video-assisted thoracoscopic surgical pleurod- 191. Avila, N. A., Kelly, J. A., Chu, S. C., Dwyer, A. J. & Moss, J.
esis for persistent spontaneous pneumothorax in late pregnancy. Anaesth. Lymphangioleiomyomatosis: abdominopelvic CT and US findings.
Intensive Care 2000; 28: 208“10. Radiology 2000; 216: 147“53.
179. Levine, A. J. & Collins, F. J. Treatment of pneumothorax during pregnancy. 192. Wahedna, I., Cooper, S., Williams, J. et al. Relation of pulmonary lymphan-
Thorax 1996; 51: 338“9. gioleiomyomatosis to use of oral contraceptive pill and fertility in the UK: a
180. Kuczkowski, K. M. & Benumof, J. L. Subglottic tracheal stenosis in preg- national case control study. Thorax 1994; 49: 910“14.
nancy: anesthetic implications. Anaesth. Intensive Care 2003; 31: 576“7. 193. Johnson, S. R. & Tattersfield, A. E. Decline in lung function in lymphangio-
181. Sutcliffe, N., Remington, S. A., Ramsay, T. M. & Mason, C. Severe tracheal leiomyomatosis: relation to menopause and progesterone treatment. Am.
stenosis and operative delivery. Anaesthesia 1995; 50: 26“9. J. Respir. Crit. Care Med. 1999; 160: 628“33.
182. Salama, D. J. & Body, S. C. Management of a term parturient with tracheal 194. Boehler, A., Speich, R., Russi, E. W. & Weder, W. Lung transplantation for
stenosis. Br. J. Anaesth. 1994; 72: 354“7. lymphangioleiomyomatosis. N. Engl. J. Med. 1996; 335: 1275“80.
183. Ratner, E. F., Cohen, S. E., El Sayed, Y. & Druzin, M. Mask induction with 195. Boggess, K. A., Easterling, T. R. & Raghu, G. Management and outcome of
sevoflurane in a parturient with severe tracheal stenosis. Anesthesiology pregnant women with interstitial and restrictive lung disease. Am. J.
2001; 95: 553“5. Obstet. Gynecol. 1995; 173: 1007“14.


Chantal Crochetiere

Introduction and cardiac abnormalities. It is recommended that all carriers
have ECG and echocardiography every five years. Symptomatic
Myopathies are diseases of the skeletal muscle cell with intact
female carriers for Duchenne may be difficult to distinguish clini-
innervation.1 The hereditary myopathies are the muscular dys-
cally from limb-girdle muscular dystrophy.6 Female carriers of
trophies, congenital myopathies, metabolic myopathies, inflam-
Emery-Dreifuss muscular dystrophy without muscular involve-
matory myopathies, and disorders of muscle membrane
ment may also experience cardiac impairment (conduction
excitability. Pregnant women with a myopathy have specific
defects or cardiomyopathy)7 and a pacemaker may be lifesaving.1
needs depending on the symptoms and severity of the disease.
Exacerbation of muscle weakness is common, especially in the
Myotonic dystrophy (dystrophica myotonia = myotonia
third trimester. This decreased muscle strength may not be able
atrophica = Steinert myopathy)
to compensate for the high demands of labor and delivery.
Myotonic dystrophy is the most frequent inherited muscular dis-
Pregnancy may occasionally uncover a disease that was pre-
order among adults,8 the incidence of the gene is 13.5:100 000 and
viously asymptomatic. Multidisciplinary consultation early in
the prevalence of the disease is 5:100 000.9 It is an autosomal
the pregnancy is important for a successful outcome.
dominant transmitted disease with variable expression.
Although myotonic dystrophy usually begins in early adult life, a
Hereditary myopathies (see Table 5.1) congenital form is described. Prevalence is equal between the
sexes, but pathological changes may be more obvious in males.10
Muscular dystrophy
Progressive distal-limb muscle weakness and wasting, failure of
Muscular dystrophy is a major cause of progressive weakness and muscles to relax after a forceful contraction (myotonic hand-
shake) and weakness of facial muscles11 are the major distin-
wasting of the musculature of the limbs and trunk. It usually can be
differentiated from a neuropathy by the involvement of the proximal guishing features. Myotonia is the most common finding on
muscle, the absence of sensory disturbances, and abnormalities of physical examination but is often a relatively insignificant com-
the electromyogram, muscle biopsy, and DNA studies. Muscular ponent in relation to other features of the syndrome. Percussion
dystrophies are the result of a primary genetic defect, which is myotonia may be present when the grasp response is not found.
specific to each type. Inheritance is due to a dominant, a recessive, Severe atrophy of the temporalis and sternocleidomastoid mus-
cles appears early and leads to typical facies.12 Diagnosis is made
or a sex-linked gene, or a muscular dystrophy may arise by the
occurrence of a mutation. Classification is based on historic descrip- by family history and physical examination, and confirmed by
tions or clinical similarities. Since oculopharyngeal dystrophy has an electromyography and muscle biopsy. Myotonic dystrophy is a
onset in the fifth or sixth decade it will not be discussed here. multisystem disease (see Table 5.2) and involves smooth as well
as striated muscle.7,13,14 It is divided in two subgroups: Type 1 and
Duchenne, Becker, and Emery-Dreifuss muscular Type 2. Myotonic dystrophy Type 2 is clinically similar to Type 1
dystrophies (myotonia, distal weakness, frontal baldness, cataracts, infertility,
Duchenne, Becker, and Emery-Dreifuss muscular dystrophies are and cardiac dysrhythmia) but less severe (less dementia, hyper-
somnia, and diabetes).15
sex-linked disorders affecting males and they are now classified
as dystrophinopathies. These three diseases are amenable to
Myotonic dystrophy and pregnancy Many case reports of
carrier detection and prenatal diagnosis by DNA analysis.
Female carriers usually show no clinical signs but on occasion myotonic dystrophy during pregnancy have been
may manifest minor features or even slight or more severe described. Fertility in women with myotonic
degrees of weakness.2,3,4 In a series of 56 carriers of Duchenne dystrophy is not reduced except in those severely affected.22
or Becker dystrophy, most were asymptomatic but 18% had car- Pregnancy does not usually affect the long-term course of the
disease.23 Temporary exacerbation of myotonia and muscle
diac abnormalities. Most of those with cardiac abnormalities
weakness may occur during the third trimester11 with rapid
showed only borderline abnormalities and the majority were
older (>45 years). Echocardiography was abnormal more fre- improvement after delivery. Deterioration may be related to pro-
gesterone levels24 or may be attributed partly to inactivity.11 In
quently than electrocardiogram (EKG). The prevalence of skeletal-
muscle weakness in the same series was 12%.5 many women, symptoms are first noticed during pregnancy,24 or
In conclusion, it is important to realize that there is no apparent the disease may be diagnosed for the first time after the birth of a
child affected with the congenital form.12,24
correlation between the presence of skeletal-muscle involvement

Obstetric Anesthesia and Uncommon Disorders, eds. David R. Gambling, M. Joanne Douglas and Robert S. F. McKay. Published by Cambridge University Press.
# Cambridge University Press 2008.
2 Musculoskeletal disorders

Table 5.1 Hereditary myopathies Table 5.3 Myotonic dystrophy “ obstetrical complications

1. Muscular dystrophy Spontaneous abortion
Myotonic Polyhydramnios
Facioscapulohumeral Premature labor
Limb-girdle Abnormal presentation
Scapuloperoneal Cesarean delivery
Congenital Prolonged first stage (?)

2. Congenital myopathies Inability to bear down
Central core Uterine atony
Mini core Retained placenta
Nemaline Placenta previa and accreta
Myotubular Increased incidence of neonatal death
3. Metabolic myopathies (disorders of muscle energy metabolism)
Some authors25 have described inadequate uterine contrac-
 Glycogen storage and glycolytic defects
tions in the first stage of labor while others20,24 observed a normal
 Disorders of lipid metabolism
or shorter course of labor with the usual response to oxytocin. The
4. Disorders of muscle membrane excitability
parturient with myotonic dystrophy has a high incidence of
 Calcium channel disorders of muscle (hypokalemic periodic
obstetrical complications that may require anesthetic assistance
(see Table 5.3).
 Sodium channel disorders of muscle
Premature labor, with or without polyhydramnios, is common.
 Hyperkalemic periodic paralysis
Prolongation of pregnancy in these women is important from the
 Paramyotonia congenita
fetal point of view, since most preterm babies with congenital
 Potassium aggravated myotonia (sodium channel myotonia)
myotonic dystrophy require ventilatory support whereas term
 Chloride channel disorders of muscle (myotonia
babies are less affected (50% require ventilation).26 Tocolytic
therapy may delay delivery for 24 to 48 hours, which allows
administration of a glucocorticoid to accelerate fetal lung matur-
ity. Nifedipine appears to be more effective than ritodrine as a
tocolytic agent and has a lower incidence of adverse hemody-
Table 5.2 Clinical features of myotonic dystrophy namic and metabolic changes, so is now the first-line tocolytic
agent.27 Nifedipine is a potent smooth-muscle dilator and unlike
 Mild mental retardation
verapamil has little negative inotropic effect.28 Calcium channel
blocking drugs decrease anesthetic requirements by 25%.29
Verapamil has precipitated respiratory failure in a patient with
 Cataract (presenile)
Duchenne muscular dystrophy.30 Skeletal-muscle weakness is
 Nasal voice
listed as a less common side effect of nifedipine.28
In cases of premature labor, bed rest, hydration, indomethacin,
 Respiratory system:
and possibly epidural analgesia should be tried first. If needed,
 atrophy of respiratory muscles
the smallest dose of nifedipine should be used with caution under
 central sleep apnea7
ECG monitoring and muscle-strength evaluation. If the patient
 aspiration pneumonia
requires general anesthesia, all anesthetic drugs should be care-
 Cardiac system:
fully titrated.
 cardiac conduction defects
Preeclampsia in myotonic dystrophy has been reported.12
 atrial dysrhythmias
Magnesium sulfate (MgSO4) may increase muscular weakness
 relative hypotension13
in patients with this disorder. Those who require MgSO4 should
be examined frequently and the MgSO4 infusion maintained to
 Digestive system:
provide the lowest therapeutic serum level in order to avoid
 abnormal swallowing
respiratory compromise.
 incoordination of upper esophageal sphincter
 decreased tone in the lower esophageal sphincter
Congenital myotonic dystrophy Congenital myotonic dystrophy
 dilated stomach and delayed gastric emptying
is the most severe form of the disease and it has a high mortality
 intestinal pseudo-obstruction14
rate.31 It is transmitted solely by an affected mother32 who may be
 Endocrine system:
asymptomatic.22 The risk of having an affected child with the
 abnormalities of glucose metabolism
congenital form is 10%, increasing to 40% if a previous child was
 gonadal atrophy in males
affected.33 Older women have more severely affected children.34

Chapter 5

The most characteristic symptoms during pregnancy are reduced
Table 5.4 Myotonic dystrophy, pregnancy, and anesthesia:
fetal movements and polyhydramnios, caused by impaired fetal
anesthetic considerations
swallowing.31,35 It is also associated with nonimmune hydrops
fetalis.36,37 The neonate has severe generalized hypotonia and  Airway
weakness without myotonia, difficulties in breathing, sucking,  malocclusion
and swallowing,24,38,39 but there is a gradual improvement after  temporomandibular dislocation
the neonatal period. Unfortunately, children who survive are  Respiratory
mentally retarded and later develop the underlying disease,  increased sensitivity to respiratory depressant drugs
which is gradually progressive.  decreased cough reflex: potential for pneumonia and atelectasis
Genetic counseling of affected individuals prior to pregnancy is  postoperative respiratory failure
important. The abnormal gene is localized on chromosome  Cardiac
1922,40 in Type 1, and chromosome 3 in Type 2. Carrier and  conduction problems
prenatal detection can be performed.22,41 Subsequent genera-  dysrhythmia
tions manifest the disease more severely and at an earlier age.  Digestive
This phenomenon, called anticipation, is a unique feature of  aspiration
myotonic dystrophy.42  Obstetrical
 prolonged labor
Myotonic dystrophy, pregnancy, and anesthesia Several cases  hemorrhage
have been described in the obstetric anesthesia litera-  more frequent cesarean delivery
ture.43,44,45,46,47,48,49,50,51 Patients with established myotonic dys-  neonatal resuscitation
trophy may not be the ones at greatest risk, but rather those with  Myotonic crisis (see Tables 5.5 and 5.6)
mild disease or undiagnosed individuals.52 Many of the latter
patients may be unaware of, or fail to mention, their muscle
symptoms.53 Table 5.5 Myotonic crisis prevention
Respiratory and cardiac involvement should be carefully
assessed since many patients have serious cardiac involvement.54
The severity of cardiac disease does not parallel that of the skeletal-
 delivery room
muscle disease. Most cardiac problems are due to involvement of
 i.v. fluids
conducting tissue.55 Conduction abnormalities include first-
degree AV block, intraventricular conduction defects, and bundle
branch block. Dilated cardiomyopathy is uncommon53,55,56 and
cardiac decompensation secondary to anesthesia,57 or pregnancy
 Handle muscles gently
occasionally occurs.58,59 Preoperative investigations should
include an EKG, even in the asymptomatic patient; Holter moni-
tor; echocardiogram; chest x-ray; pulmonary function tests; and
Table 5.6 Treatment of myotonic crisis
room-air blood gas analysis. Pulmonary function abnormalities
include: reduced vital capacity, total lung capacity, and peak
For generalized myotonic contracture:
expiratory pressure. The diaphragm may move abnormally, and
 procainamide (100 mg/min for a total of 1000 mg i.v. “ careful,
intercostal muscles are myotonic.60 It has been suggested that
if conduction defects exist)
a vital capacity of one liter is the minimum functional require-
ment necessary to maintain a successful pregnancy.61 Invasive
intraoperative monitoring depends on American Society of
For localized myotonic contracture:
Anesthesiologists (ASA) physical status and the anesthetic con-
 direct injection of local anesthetic into muscle
siderations are summarized in Table 5.4. Abnormalities of the
airway have been described but difficult intubation has not
been reported.50,62 during surgery (see Table 5.5). Medication for treatment should
A myotonic crisis is a unique complication where the patient be readily available (See Table 5.6). One patient was reported to
develop myotonia after propofol administration.63 Methohexital
develops marked generalized contracture of skeletal muscles that
can last 2“3 minutes. Spontaneous and controlled ventilation can and etomidate might be expected to produce similar responses.
be severely compromised.7 A myotonic crisis is not relieved by Epidural anesthesia is the method of choice for labor analgesia,
neuromuscular blockade, peripheral nerve block, regional forceps delivery, or cesarean section (C/S). Spinal deformities are
anesthesia, or general anesthesia. A generalized and/or localized very rare in myotonic dystrophy. Spinal anesthesia may be used
contracture should be prevented by prewarming the delivery although it is relatively contraindicated for C/S if the respiratory
room and i.v. fluids, by the use of warming blankets, by strict system is severely compromised; combined spinal“epidural (CSE)
anesthesia has been described.64,65 Case reports suggest a reduced
avoidance of succinylcholine, by selecting an anesthetic techni-
respiratory complication rate with regional anesthesia.43,46,47,50
que that diminishes shivering, and by gentle handling of muscles

2 Musculoskeletal disorders

If regional anesthesia fails, or is contraindicated for other rea- Succinylcholine is contraindicated as in every primary muscle
sons, general anesthesia can be safely administered, keeping in disease. There appears to be a normal response to nondepolariz-
mind the anesthetic considerations of pregnancy and myotonic ing neuromuscular blocking agents. There is a strong association
dystrophy. Respiratory-depressant drugs should be used cau- between malignant hyperthermia (MH) and central core myopa-
tiously because of diminished respiratory reserve and possible thy supported by clinical and laboratory evidence, including the
central nervous system involvement10,60 with a preference for proximity of the two genes on chromosome 19.74,76
short-acting drugs.66,67 Nondepolarizing neuromuscular block- King-Denborough syndrome (King syndrome) is a genetically
ing agents appear to behave normally,68,69 but the effect of a heterogeneous phenotype that results from various congenital
myopathies.104 This syndrome is a rare disorder associated with
small amount of residual muscle weakness, usually not clinically
apparent in normal patients, may cause postoperative respiratory slowly progressive myopathy, MH, kyphoscoliosis, micrognathia,
failure. Some authors70,71 suggest that neostigmine may precipi- malar hypoplasia, and other dysmorphic facial features similar to
tate myotonic crisis, but others68,72 have used it safely and report Noonan syndrome. These patients do not have cardiac problems,
a normal response. It may be prudent to use short-acting muscle but severe respiratory compromise may be present secondary to
relaxants, which do not require antagonism and which have no spinal deformity and progressive myopathy. A case has been
residual effects. Malignant hyperthermia is not associated with described in a woman who had an outlet forceps delivery under
myotonic dystrophy.53,73,74,75,76 epidural analgesia. That patient had a tracheotomy and was ven-
The postoperative period is critical.77,78,79 Patients should be tilator dependent.105,106
monitored for dysrhythmias and airway obstruction, preferably
in an intensive care unit setting. Physiotherapy should start as
Disorders of muscle energy metabolism
soon as possible; morbidity and mortality are usually due to
(metabolic myopathies)
respiratory problems like aspiration pneumonia or cardiac fail-
ure. Analgesia is best achieved by regional blockade and/or neur- Fatty acids and glucose are the two most important sources of
axial opioids. Systemic opioids should be administered with energy for skeletal muscle. Abnormalities of metabolism can be
caution. associated with rhabdomyolysis, myoglobinuria, and muscle
weakness simulating muscular dystrophy.
Other forms of muscular dystrophy (see Table 5.7)
Other forms of muscular dystrophy are all slowly progressive dis-
Disorders of glycogen storage and glycolytic defects
eases.1,2,3,15,22,60,80,81,82,83,84,85,86,87,88,89 Women of childbearing age
usually are not much affected. The exception is limb-girdle muscular Disorders of glycogen storage (mainly acid-maltase deficiencies)
dystrophy where more patients experience exacerbation of the dis- may cause muscle weakness and mimic limb-girdle muscular
ease in pregnancy and are at increased risk for C/S secondary to dystrophy or inflammatory myopathies. Reproductive potential
trunk-muscle weakness. There are very few case reports. As opposed is low, secondary to early respiratory failure or death during
to myotonic dystrophy, smooth muscle is never involved. Each par- childhood. If patients become pregnant, demands for metabolic
adjustments usually lead to fetal wastage.1
turient should be treated on an individual basis. Management should
be determined after consultation with a neurologist or an internist. Disorders of glycolysis, causing exercise intolerance and myo-
Pulmonary-function testing should be obtained if significant weak- globinuria, can be managed with diet and prevention of stress.
ness is present. Antepartum ECG and echocardiography should be Two cases of successful pregnancy in glycogen storage type 1
done. Operative delivery is more frequent. Succinylcholine should (Von Gierke) complicated by mild preeclampsia in one, and deliv-
always be avoided because of the risks of hyperkalemia and rhab- ered by C/S for obstetric reasons in the other, have been
described.107 Anesthesia was not described and patients had
domyolysis. Regional anesthesia is preferred when feasible.
mainly metabolic imbalance controlled by different diets.

Congenital myopathies (see Table 5.8)
Disorders of lipid metabolism (Table 5.9)
Congenital myopathies (or sarcoplasmic myopathies) are a group of
rare diseases characterized by the presence of specific abnormalities These disorders are classified by the area of mitochondrial meta-
in the muscle biopsy.1,15,88,90,91,92,93,94,95,96,97,98,99,100,101,102,103 bolism specifically affected.1,22,108,109,110,111,112,113,114,115,116,117,
Included in this group are: central core, minicore, nemaline, distal, Successful pregnancies in women with defects of
and centronuclear myopathies. Muscle biopsy is the only way substrate transport and defects of the respiratory chain have
been described.119,120,121 Carnitine palmitoyl transferase (CPT)
to make an accurate diagnosis since serum enzymes and electro-
myography (EMG) are usually normal. In most cases a pattern of deficiency is the most frequent disorder observed in this category.
inheritance has been defined. The congenital myopathies possess In these patients, it is very important to decrease stress and pain,
a number of common characteristics. Profound weakness and and avoid fasting. Early neuraxial analgesia, glucose infusion, and
hypotonia are present at birth, but are usually nonprogressive. low-outlet forceps help avoid rhabdomyolysis. Some believe that
Muscle wasting and weakness are associated with secondary CPT deficiency and MH are related, in that both conditions
can cause rhabdomyolysis.118 In providing anesthesia to these
skeletal changes or dysmorphic features. Difficulties with tra-
cheal intubation and regional anesthesia may occur. patients, one should consider avoiding triggering drugs and

,,, , ,
Table 5.7 Muscular dystrophy (other forms)1 2 3 22 60 80

Disease Muscular Respiratory Cardiovascular Obstetrical Specific Prenatal
Inheritance Onset Clinical course involvement involvement involvement Anesthesia problems problems references diagnosis

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