Respiratory Failure Revealing Mitochondrial Myopathy in Adults

Cros, Didier; Palliyath, Sarala; DiMauro, Salvatore; Ramírez, C Darío; Shamsnia, Morteza; Wizer, Barbara

doi:10.1378/chest.101.3.824

Cited by 43 publications

(33 citation statements)

References 20 publications

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“…Rarer still is the symptom onset in adults with no preceding respiratory symptoms, as in our patient. Most cases of COX deficiency are detected in infancy [4,5], though there have been case reports in older children [6]. Presentation during adulthood has been previously reported [7][8][9][10][11], usually with either preceding lifelong respiratory symptoms or other chronic symptoms.…”

Section: Discussionmentioning

confidence: 99%

A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency

O'Brien¹,

Blaivas²,

Albers³

et al. 1998

Eur Respir J

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aaCytochrome c oxidase (COX) is a complex mitochondrial enzyme involved in oxidative phosphorylation. COX deficiency can result in a myopathy. We describe a patient with acute respiratory failure and pulmonary hypertension secondary to a partial COX enzyme deficiency. This is one of four reported cases with isolated late-onset COX deficiency involving muscle, sparing ocular or central nervous system function. This patient also illustrates the need to consider neuromuscular weakness in the differential diagnosis of dyspnoea, respiratory failure and pulmonary hypertension. Finally, the effectiveness of bilevel positive airway pressure (BiPAP) therapy in respiratory failure due to a myopathy is demonstrated. Case reportA 27 yr old woman was admitted to another hospital after 3 months of progressive dyspnoea on exertion. She was short of breath on walking up <1 flight of stairs. She also complained of coughing and some wheezing. Previous treatment included numerous courses of antibiotics and systemic corticosteroids without benefit. The patient had no prior illnesses; she was on no other medications, and had no known environmental exposures. She had never smoked cigarettes or abused alcohol or drugs. Her family history was noncontributory.Physical examination revealed the blood pressure to be 127/64 mmHg, heart rate 98 beats·min -1 , respiratory rate 23 breathes·min -1 . The patient was afebrile and in mild respiratory distress. There was evidence of pulmonary hypertension. A chest examination revealed limited thoracic movement and diminished breath sounds without wheezing or crackles. The patient had 3+ peripheral oedema. The neuromuscular exam was normal, including eye movements. Initial arterial blood gas analysis on room air: pH 7.36, O 2 tension in arterial blood (Pa,O 2 ) 4.1 kPa (31 mmHg), CO 2 tension in arterial blood (Pa,CO 2 ) 9.4 kPa (71 mmHg). The routine laboratory evaluation was unremarkable. The chest radiograph revealed cardiomegaly with central pulmonary vascular engorgement. Supplemental oxygen was administered, and the Pa,O 2 rose to 9.0 kPa (68 mmHg); however, the Pa,CO 2 progressively rose, ultimately requiring ventilatory support. Evaluation of the pulmonary hypertension included the following: cardiac ultrasound showed marked right atrial and ventricular enlargement, with moderate tricuspid regurgitation and normal left ventricular function. There was no evidence of intracardiac shunts. The ventilation-perfusion lung scan and lower extremity duplex ultrasound were normal. Right heart catheterization revealed a pulmonary artery pressure of 97/52 mmHg, cardiac output/index 7/3.5 L·min -1 , pulmonary capillary wedge pressure 18 mmHg, central venous pressure 27 mmHg, systemic vascular resistance 881 dyne·s -1 ·cm -5 , pulmonary vascular resistance 576 dyne·s -1 ·cm -5 . The patient was successfully extubated 2 days later and transferred to our hospital.Further evaluation at our hospital included: arterial blood gases, which showed pH 7.27, Pa,O 2 11.0 kPa (83 mmHg), Pa,CO 2 10.5 kPa (79 mmHg) on ...

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Section: Discussionmentioning

confidence: 99%

A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency

O'Brien¹,

Blaivas²,

Albers³

et al. 1998

Eur Respir J

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“…Adult patients with previously undiagnosed IEM rarely present with respiratory symptoms as the initial manifestation. However, there are several case reports of adults presenting, even at old age, with respiratory failure due to a previously undiagnosed mitochondrial myopathy [85] .…”

Section: Mitochondrial Diseasesmentioning

confidence: 99%

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism

Tran

Barbey²,

Lazor³

et al. 2017

Respiration

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Inborn errors of metabolism (IEM) are rare individually, but taken together, they affect 1 in 1,000 people. Most of the disease becomes apparent at the pediatric age; however, with the identification of late-onset forms, and with improved survival, several of these conditions may be found in adults of all ages. While the lung is not typically a primary site of clinical disease in patients with IEM, in some of them it can be a significantly affected organ with associated severe respiratory complications. Lung involvement can be a late- onset feature of a complex multisystemic disease, but sometimes it can also be the only manifestation of underlying IEM. The aim of this review is to focus on specific IEM associated with lung disease in adults and to provide the reader with an overview of the diagnostic workup, overall disease management, and specific treatments for the respiratory manifestations. Clinical suspicion, early recognition, prompt diagnosis, and appropriate care of the respiratory manifestation are crucial, as they can affect both the life expectancy and the quality of life of these patients.

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“…16 In the latter, it usually appears late in the course of the disease, but occasional presentation with respiratory failure has been reported, including restrictive syndrome in mitochondrial disorders. 17 Two pathophysiological mechanisms leading to respiratory failure in patients with mitochondrial disorders have been proposed: (i) abnormal respiratory drive caused by dysfunction in the central nervous system (brainstem) respiratory centers; (ii) weakness and/or fatigue of the inspiratory muscles.…”

Section: Discussionmentioning

confidence: 99%

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

et al. 2011

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Although mutations in mitochondrial tRNAs constitute the most common mtDNA defect, the presence of pathological variants in mitochondrial tRNA Asn is extremely rare. We were able to identify a novel mtDNA tRNA Asn gene pathogenic mutation associated with a myopathic phenotype and a previously unreported respiratory impairment. Our proband is an adult woman with ophthalmoparesis and respiratory impairment. Her muscle biopsy presented several cytochrome c oxidase-negative (COXÀ) fibres and signs of mitochondrial proliferation (ragged red fibres). Sequence analysis of the muscle-derived mtDNA revealed an m.5709T4C substitution, affecting mitochondrial tRNA Asn gene. Restriction-fragment length polymorphism analysis of the mutation in isolated muscle fibres showed that a threshold of at least 91.9% mutated mtDNA results in the COX deficiency phenotype. The new phenotype further increases the clinical spectrum of mitochondrial diseases caused by mutations in the tRNA Asn gene.

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Respiratory Failure Revealing Mitochondrial Myopathy in Adults

Cited by 43 publications

References 20 publications

A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency

A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

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