Polysaccharide Storage Myopathy in Cob Normand Draft Horses

Larcher, Thibaut; Herszberg, Bérénice; Molon-Noblot, S; Guigand, Lydie; Chaffaux, Stéphane; Guérin, Gérard; Chérel, Yan

doi:10.1354/vp.45-2-154

Cited by 13 publications

(23 citation statements)

References 10 publications

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“…There are individual reports of sudden (perhaps cardiac‐related) death in Cob Normand Draft horses with PSSM but, in the present study, we found no evidence of disturbed conduction or arrhythmogenesis in PSSM1‐affected horses. In contrast, atrioventricular conduction defects have been reported in mice with a glycogen storage cardiomyopathy associated with over‐expression of AMP‐activated protein kinase (a model of Wolff Parkinson White syndrome) .…”

Section: Discussioncontrasting

confidence: 68%

“…Previous studies in horses with PSSM1 were focused on the histological and ultrastructural findings observed in skeletal muscle of affected animals . In the present study, our aim was to investigate cardiac phenotype in affected horses, given the presence of cardiac signs in glycogenoses of humans and reports of PSSM‐affected horses with cardiac pathology and sudden death . We did not, however, find evidence for ongoing cardiomyocyte injury or intermittent arrhythmias in affected horses.…”

Section: Discussionmentioning

confidence: 80%

“…Some authors have described horses with PSSM that have polysaccharide inclusions in cardiac as well as in skeletal muscle . Specifically, amylase‐resistant inclusions were detected in cardiac muscle from 1 of 9 PSSM‐affected draught horse‐related breeds in 1 study,1 of 3 Quarter Horses, and in 3 of 8 Belgian and Percheron Draft horses in other studies .…”

mentioning

confidence: 94%

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Evaluation of Cardiac Phenotype in Horses with Type 1 Polysaccharide Storage Myopathy

Naylor

Fuentes

Livesey

et al. 2012

Veterinary Internal Medicne

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Background: Type 1 polysaccharide storage myopathy (PSSM1), an equine glycogen storage disorder caused by a gain of function mutation (R309H) in the gene encoding glycogen synthase (GYS1), is associated with the accumulation of amylase-resistant alpha-crystalline polysaccharide inclusions within skeletal muscle. Several glycogenoses in humans have a cardiac phenotype, and reports exist of horses with PSSM and polysaccharide inclusions in cardiac muscle.Hypothesis/Objectives: To investigate the hypothesis that horses with PSSM1 display a cardiac phenotype. Our objectives were to compare plasma cardiac troponin I (cTnI) concentration and the incidence of cardiac arrhythmias in PSSM1 homozygotes, heterozygotes, and control horses.Methods: One hundred and twenty-five Belgian and Percheron horses under the same management were genotyped for the R309H GYS1 mutation. From these, 8 age-, breed-, and sex-matched cohorts of each genotype were identified. Plasma cTnI concentration and incidence of cardiac arrhythmias (determined by 24-hour Holter ECG) were compared between the groups.Results: Although some PSSM1-affected horses had mildly increased plasma cTnI concentrations, there was no significant difference in cTnI concentrations between groups. There were no significant differences in the incidence of ectopic beats, cardiac conduction intervals or mean heart rate between groups.Conclusions and clinical importance: We found no evidence of clinically relevant cardiac myocyte injury or arrhythmias in horses with PSSM1. Additional study is required to determine whether myocardial function may be compromised in this disorder.

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Section: Discussioncontrasting

confidence: 68%

Section: Discussionmentioning

confidence: 80%

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Evaluation of Cardiac Phenotype in Horses with Type 1 Polysaccharide Storage Myopathy

Naylor

Fuentes

Livesey

et al. 2012

Veterinary Internal Medicne

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“…The lack of clinical signs in these cases was not explained, it could be indication of subclinical myopathy. The finding of amylase resistant polysaccharide without any additional histopathologic features of PSSM was described in Cob Normand draft horses by Larcher et al (2008).…”

Section: Discussionmentioning

confidence: 98%

Histopathological findings in horses with and without clinical signs of rhabdomyolysis with special reference to polysaccharide storage myopathy

Ludvíková¹,

Wijnberg²,

Fictum³

et al. 2008

Vet. Med. - Czech

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Objective of the study was to assess histopathological changes in horses with a clinical history of exertional rhabdomyolysis (ER) with special reference to polysaccharide storage myopathy and to compare histopathological findings in horses with and without a clinical history of ER. In total 39 muscle samples were collected, from horses with a history of repeated episodes of exertional rhabdomyolysis (test group, 10 horses) and from horses without clinical signs of muscular disorders in their history (control group, 29 horses). Frozen muscle samples were stained with haematoxylin and eosin and periodic acid-Schiff with and without amylase digestion. Histopathologic changes (amylase resistant polysaccharide, subsarcolemmal glycogen, intracytoplasmic masses, subsarcolemmal vacuoles, fibre size variation and internal nuclei) were evaluated. There was a statistically significant difference between groups in the presence of subsarcolemmal amylase sensitive glycogen deposits (P ≤ 0.0001), the risk ratio was 5.22. Statistically significant differences between groups were not found regarding the presence of intracytoplasmic masses, subsarcolemmal vacuoles, amylase resistant polysaccharide, fibre size variation and internal nuclei. Presence of amylase resistant polysaccharide within muscle fibres of apparently healthy horses could be a manifestation of different phenotype expression of PSSM but also the insufficient specificity of this diagnostic criterion.

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“…The "gold standard" for diagnosis of PSSM is generally accepted to be the presence of amylase-resistant, periodic acid-Schiff (PAS)-positive, abnormal polysaccharide inclusions in skeletal muscle fibers (Fig. In some animals, excessive glycogen may be stored within muscle prior to abnormal PAS-positive, amylase-resistant polysaccharide (De La Corte et al 2002, Valentine et al 2006, Larcher et al 2008. However, others have suggested that excess amylase-sensitive glycogen in the absence of complex polysaccharide may also be used to diagnose PSSM (Valentine et al 1998, Valentine 2003; see Box 31.4 on PSSM diagnosis).…”

Section: Diagnosismentioning

confidence: 99%