Types of mitochondrial myopathies kearnssayre syndrome kss onset. There are various concerns with regard to ga in this patient group, with a generally held belief that patients with mitochondrial disease are at increased risk during anaesthesia. Complex v is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Anesthetic considerations in patients presenting with mitochondrial myopathy, encephalopathy. Mitochondrial disease is a complex disease and therefore can be difficult to explain in words alone. Pdf anesthesia and mitochondrial cytopathies researchgate. Mitochondrial diseases in children are increasingly recognized. When children present to the operating room with a diagnosis of myopathy, it is often. Definition of mitochondrial cytopathy, kearnssayre type. Patients with mitochondrial myopathy who undergo general anesthesia ga reportedly have susceptibility to malignant hyperthermia, 1, 2 resistance to or prolonged effects from muscle relaxants, 3 and may develop fatal hyperkalemia 4, 5 if given depolarizing neuromuscularblocking drugs. Complex v is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation. Pdf on jan 1, 1998, bruce h cohen and others published anesthesia and mitochondrial cytopathies find, read and cite all the research. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the atp that powers most cell functions mitochondrial diseases take on unique characteristics both because of.
The type of data collected can vary from registry to registry and is. Anesthesia and sedation risks in children labeled with. The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any. Even though these disorders are rare, these patients may also need surgical care, requiring that the anesthesia provider. They have been reported in an ethnically diverse population in the uk as the most common inherited neurometabolic disorder of childhood. Mitochondrial disease and anesthesia stanford medicine. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear dnamutations. Over the past decade we have seen a surge of interest in patients with mitochondrial disease. Mutations in genes coding mitochondrial proteins can result in mitochondrial dysfunction and insufficient energy.
When propofol is problematic society for pediatric anesthesia. Nucleic dna sthe mitochondrial genome is circular, whereas the nuclear genome is linear s the mitochondrial genome is built of 16,569 dna base pairs, whereas the nuclear genome is made of 3. Read medical definition of mitochondrial cytopathy, kearnssayre type. However, epidemiological evidence suggests a birth. Anaesthesia and mitochondrial disease 251 table 1 disease. Anesthesia and sedation risks in children labeled with autistic spectrum disorder complied by. Mitochondrial cytopathy, mitochondrial myopathy, mitochondrial encephalomyopathy disease name.
The diagnosis of mitochondrial disorders can be challenging in many cases and is based on clinical recognition, biochemical screening, histopathological studies, functional studies, and molecular genetic testing. This type of finding may mimic a leukodystrophy and has recently been recognized as a finding consistent with a mitochondrial presentation. Mitochondrial myopathies and anaesthesia volume 21 issue 3 e. Any of various diseases caused by malfunctioning of mitochondria as a result of inherited or acquired mutations in mitochondrial or nuclear dna, typically affecting several organ systems, especially the nervous and muscular systems. An increased awareness is needed whenever a person with a mitochondrial cytopathy is contemplating. This ultimately causes defects in aerobic metabolism, especially in highenergyrequiring organs, leading to an obvious concern with anesthetic management.
They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins including some prescription medications, and. Mitochondrial myopathies also can cause weakness and wasting in other muscles of the face and neck, which can lead to difficulty with swallowing and, more rarely, slurred speech. There are numerous mitochondrial disorders that affect the neurological and muscular systems in a variety of ways. Mitochondrial complex v deficiency is a shortage deficiency of a protein complex called complex v or a loss of its function. Anesthetic management of a patient with mitochondrial. Does mitochondrial myopathy mm increase an individuals susceptibility to malignant hyperthermia mh. It can affect all body systems and lead to acute symptoms such as. Respiratory involvement in adult mitochondrial disease. Anesthetic considerations in patients with mitochondrial defects. In oligosymptomatic diseases, such as in certain renal mitochondrial cytopathies, serum lactate may be normal.
Review mitochondrial disease and anesthesia vincent c. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with mitochondrial myopathy with diabetes. Mitochondrial cytopathies parkinson disease click to. Does mitochondrial myopathy mm increase an individuals.
Anaesthesia recommendations for patients suffering from. Anesthetic management for an infant with mitochondrial. Mitochondrial myopathy with diabetes genetic and rare. Listing a study does not mean it has been evaluated by the u. People with mitochondrial myopathies also may experience muscle weakness in their arms and legs.
Mitochondrial encephalopathy, lactic acidosis, strokelike symptoms melas syndrome is a specific mitochondrial myopathy that results in defects in respiratory enzyme complexes i and iv. Mitochondrial disorders radiology reference article. When suspecting a mitochondrial disorder, the first step is generally to measure serum lactate levels, which are frequently elevated, although often fluctuating. Propofol inhibits mitochondrial function at multiple sites. Morgan, md1 abstract it is increasingly common for children with mitochondrial disease to undergo surgery and anesthesia. Mitochondrial cytopathies mc are a group of rare congenital disorders characterized by progressive multiorgan dysfunction and. This may result in an increase in the incidence of postoperative infections. With low hepatic mitochondrial activity, phagocytosis by kupffer cells and the reticuloendothelial system activity decline. Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. Therefore, infants with leukoencephalopathies, especially leukodystrophies, who do not have one of the more common causes of whitematter disease should be evaluated for a possible mitochondrial cytopathy. Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.
This ultimately causes aerobic metabolism defects especially in high energy requiring organs, leading to an obvious concern with anesthetic management. Anaesthesia for patients with mitochondrial myopathy. Anaesthesia and mitochondrial disease docencia en anestesia. The diagnosis of mitochondrial disease remains difficult. Breucking e, mortier w, lampert r, brandt l 1993 anaesthesia and intensive care for a patient with mitochondrial myopathy and a general condition similar to that seen with malignant hyperthermia. Anesthesia and mitochondrial cytopathies cohen, shoffner, deboer page 3 umdf hypotonia low muscle tone, bulbar dysfunction weakness of the muscles that protect the airway and relatively poor ventilatory function decreased ability to breathe deeply and cough are common in patients with mitochondrial diseases and pose an increased risk for. Cytopathy definition of cytopathy by medical dictionary. The overall aim should be to avoid further clinical features of mitochondrial disease stresses to an already dysfunctional system of aerobic neurologicalmyopathic developmental delay metabolism. General anesthesia for adults with mitochondrial myopathy. Cytopathy definition of cytopathy by the free dictionary. Although many different anesthetics have been used successfully for.
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes melas is a condition that affects many of the bodys systems, particularly the brain and nervous system encephalo and muscles myopathy. Anesthesia and mitochondrial cytopathies cohen, shoffner, deboer page 4 umdf known as tumor necrosis factor tnf, is known to be released by the body during surgery. Mitochondrial encephalopathy, lactic acidosis, strokelike symptoms syndrome melas is a specific mitochondrial myopathy mm that results in defects in respiratory enzyme complexes i and iv. Mitochondrial cytopathies definition of mitochondrial. Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome. Patients with mitochondrial disease are at risk of metabolic. Sthe mitochondrial genome contains 37 genes that encode proteins, 22 trnas, and 2 rrnas. Estimated to have a lifetime prevalence of 1 in 5,000, mitochondrial disease is the most common group of neurometabolic diseases 1. While uncommon, mitochondrial myopathies present specific difficulties with regards to.
Clinical implications of mitochondrial dysfunction. Mitochondrial disease, once thought to be a rare clinical entity, is now rec ognized as an important cause. It is important that such involvement is recognised so that appropriate advice may be offered, screening arranged, and treatment provided in a timely fashion. Proximal myopathy often seen in mitochondrial disease may also involve the axial and respiratory muscles. Initially identified as a cause of myopathy, mitochondrial dysfunction is now recognized as a relatively common cause of multisystem disease, affecting not only the central and peripheral nervous system but also other organs. Longterm anaesthesia 48 hours and doses exceeding 4mgkgh 66 gkgmin with propofol heightens the risk of mitochondrial. This report discusses an unusual adverse effect of propofol anaesthesia and sedation and highlights the need for further investigation to define propofol toxicity. Mitochondrial myopathies mm muscular dystrophy association. Children with suspected mitochondrial disease often. Mitochondrial proteins are encoded by the nuclear dna and mitochondrial dna. Mitochondrial cytopathy, mitochondrial myopathy orphanet. Anaesthesia in patients with mitochondrial cytopathy. Article information, pdf download for mitochondrial disease and.
Clinical features, investigation, and management of. Patients with mitochondrial disease are at increased risk of respiratory problems. Mitochondrial dysfunction can also result in abnormalities in calcium homeostasis, reactive oxygen species, and apoptosis. Anesthesia in patients with mitochondrial disease full. Anesthesia risk in children with autistic spectrum disorder2. Many presumably unique diseases may actually be expressions of progressive organ system dysfunction due to disordered oxidative. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
It is increasingly common for children with mitochondrial disease to. Anesthetic considerations in mitochondrial disease mitochondrial disease is a genetic disorder involving areas of the body with high energy requirements cns, skeletal musculature, cardiac muscle. Mitochondria are a potential site of action for general anaesthetic agents 20 and it is feasible that children with mitochondrial disease will respond abnormally to anaesthetic drugs. Today, approximately 200 different disease causing mutations of mitochondrial dna mtdna are known, and due to. Some of the characteristic clinical, pathological and molecular findings are summarized and illustrated neurological features non. Vsd repair in a child with mitochondrial cytopathy. Subject has been diagnosed with mitochondrial dysfunction based on modified walker criteria. Currently, there are no satisfactory therapies available for mitochondrial disorders that significantly alter the course of the disease. Pdf mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. Doctors cohen, shoffner and deboer make the following conclusion. Nature video have created a bespoke educational animation to explain how mitochondria are vital to sustain life, and also what happens when they go wrong.
This disorder is defined by chronic progressive external ophthalmoplegia cpeo, which consists in slowly progressive weakness paresis of the muscles that control the eye movement extraocular muscles along bilateral ptosis dropping eyelid, plus pigmentary. An increased awareness is needed whenever a person with a mitochondrial cytopathy is. Mitochondrial myopathy fact sheet national institute of. Typically, multiple organ systems are involved, and deterioration is progressive. Cohen, md, john shoffner, md, glenn deboer, md united mitochondrial disease foundation, 1998 introduction this article will outline some basic aspects of anesthesia and address the issue of the special risks of anesthesia in patients with mitochondrial cytopathies.
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