Search results for "MYOPATHY"
showing 10 items of 352 documents
ICD Implantation in Noncompaction of the Left Ventricular Myocardium: A Case Report
2009
Isolated noncompaction of the ventricular myocardium (INVM) is an uncommon cardiomyopathy characterized by the persistence of fetal myocardium with prominent trabecular meshwork and deep intertrabecular recesses, often associated with systolic dysfunction and ventricular dilatation. A 23-year-old man from Burkina Faso was referred to our operative unit with a diagnosis of INVM, made with echocardiogram and magnetic resonance imaging and nonsustained ventricular tachycardia. The literature reports the incidence of malignant ventricular arrhythmias in as many as 47% of the patients and sudden cardiac death in almost 50% of them and this supported our decision to perform implantable cardiovert…
Treatment decision making in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: State of the art
2014
No abstract available
Does the origin of ablated premature ventricular contractions determine the level of left ventricular function improvement?
2020
Background: Premature ventricular contractions (PVCs) are associated with tachycardiomyopathy and high mortality rate. The treatment depends on the engaged ventricle. For PVCs originating from the right outflow tract (OT), radiofrequency catheter ablation (RFCA) is recommended (class IB‑R recommendation) in preference to pharmacotherapy. In those originating from the left ventricle, ablation is a class IIa B‑NR recommendation. Aims: The aim of the study was to assess the success of RFCA of PVCs based on arrhythmia origin. Methods: A total of 110 consecutive patients with monomorphic PVCs referred for ablation were enrolled and divided according to the site of ablation to the OT group and th…
The QRS narrowing index for easy and early identification of responder to cardiac resynchronization therapy.
2013
The rationale for cardiac resynchronization therapy (CRT) in patients with heart failure (HF) is based on the possibility of inducing substantial left ventricular reverse remodeling. It is well known that some of these patients don't benefit from this therapy (the so-called non-responders) [1,2]. No better predictors of a positive answer to CRT than pre-CRT QRS duration (QRSd) were found [3,4]. The aim of our study was to identify a parameter for an easy and early identification of responders to CRT. In this regard, according to Rickard et al., we identified and observed QRS index (QI), as an expression of electrical remodeling after CRT, and its relation with anatomic reverse remodeling, e…
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
2009
In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the delta-sarcoglycan gene and a second delta-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. In four heterozygous carriers for the mutation, aged 3-64 years, a second sequence variant in exon 6 (p.S151A) of the delta-sarcoglycan gene was detected on the other allele. This second missense change had previously been repo…
Bioengineered in vitro 3D model of myotonic dystrophy type 1 human skeletal muscle
2021
Abstract Myotonic dystrophy type 1 (DM1) is the most common hereditary myopathy in the adult population. The disease is characterized by progressive skeletal muscle degeneration that produces severe disability. At present, there is still no effective treatment for DM1 patients, but the breakthroughs in understanding the molecular pathogenic mechanisms in DM1 have allowed the testing of new therapeutic strategies. Animal models and in vitro two-dimensional cell cultures have been essential for these advances. However, serious concerns exist regarding how faithfully these models reproduce the biological complexity of the disease. Biofabrication tools can be applied to engineer human three-dim…
MUSCLE BIOENERGETIC ABNORMALITY IN MYOTONIC-DYSTROPHY - A SECONDARY MITOCHONDRIAL DISORDER
1993
International audience; Abstract: The thenar muscles and gastrocnemius of a patient with myotonic dystrophy were investigated, at rest, by phosphorus nuclear magnetic resonance spectroscopy. A decrease in phosphocreatine level and an increase in inorganic phosphate and phosphodiester levels were found in the gastrocnemius, which was clinically spared, whilst the thenar muscles, which were wasted and affected by myotonia, exhibited only an increased inorganic phosphate level and an elevated pH. These findings were comparable with those found in other muscular disorders, such as Duchenne's and Becker's dystrophies, as well as in limb girdle dystrophy. They suggested that the abnormalities obs…
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
2010
A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…
Effects of Coenzyme Q10 on Statin-Induced Myopathy
2015
Abstract Objective To evaluate the efficacy of coenzyme Q10 (CoQ10) supplementation on statin-induced myopathy. Participants and Methods We searched the MEDLINE, Cochrane Library, Scopus, and EMBASE databases (November 1, 1987, to May 1, 2014) to identify randomized controlled trials investigating the impact of CoQ10 on muscle pain and plasma creatine kinase (CK) activity as 2 measures of statin-induced myalgia. Two independent reviewers extracted data on study characteristics, methods, and outcomes. Results We included 6 studies with 302 patients receiving statin therapy: 5 studies with 226 participants evaluated the effect of CoQ10 supplementation on plasma CK activity, and 5 studies (4 u…
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
2012
Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. Methods: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. Results: A total of 25 patients with muscular dystrophy caused by 11 different recessive mutations in the ANO5 gene were identified. The …