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Condition: Cardiomyopathy

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Total 870 results found since Jan 2013.

A case of congenital fiber ‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
ConclusionApoptosis induced in Met327Lys-transfected muscle cells supports the pathogenicity of the mutation and can be implicated as one of the histopathological features associated with CFTD, as in NM.
Source: Molecular Genetics & Genomic Medicine - June 27, 2022 Category: Genetics & Stem Cells Authors: Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada ‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata Tags: CLINICAL REPORT Source Type: research

Amnestic aphasia in MELAS can be epileptogenic
Referring to the article by Sakata et al. we disagree with the diagnosis “thalamic aphasia” [1]. Since thalamic lesions can be associated with status epilepticus (SE) [2], it is crucial that SE has been ruled out2. Therefore, we should know if creatine-kinase (CK) was elevated to 5883 U/l due to myopathy, the stroke-like lesion (SLL), cardiomyopathy, or a SE. Becaus e periodic lateralised epileptiform discharges (PLEDs) can be the manifestation of a non-convulsive/minimal convulsive SE [3], we should know if a SE was recorded on electroencephalography (EEG) on hospital-day 8 and why midazolam was administered.
Source: Brain and Development - June 14, 2022 Category: Neurology Authors: Josef Finsterer Tags: Letter to the Editor Source Type: research

Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis —case report and literature review
AbstractWe identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on99mTc-DPD planar scintigraphy ...
Source: Journal of Nuclear Cardiology - May 17, 2022 Category: Nuclear Medicine Source Type: research

The role of multimodality imaging in patients with heart failure with reduced and preserved ejection fraction
Purpose of review The burden of clinical heart failure, both heart failure with a reduced ejection fraction (HFrEF) and with a preserved ejection fraction (HFpEF), continues to increase both nationally and globally. This review summarizes the expanding role of multimodality imaging techniques in the evaluation and management these patients. Recent findings Echocardiographic assessment for heart failure continues to expand and should include a robust hemodynamic and strain assessment. Nuclear techniques have also continued to evolve and advances including computed tomography attenuation correction for single phot...
Source: Current Opinion in Cardiology - May 1, 2022 Category: Cardiology Tags: HEART FAILURE: Edited by Jerry Estep Source Type: research

Hf-566-04 pathogenic variants in emd are associated with an isolated cardiac emerinopathy
Emerin (EMD) is an inner nuclear envelope protein critical to the integrity of the nucleoskeleton and mechanotransduction. Loss-of-Function (LoF) variants in EMD results in Emery-Dreifuss muscular dystrophy type 1 (EDMD1). This syndrome is characterized by a proximal skeletal myopathy associated with joint contractures and cardiac conduction disease. Several small reports have suggested that pathogenic EMD variants are associated with a cardiac emerinopathy (cardiomyopathy without evidence of skeletal myopathy).
Source: Heart Rhythm - April 29, 2022 Category: Cardiology Authors: Ahmed Alsalem, Erica S. Zado, Rajat Deo, Pasquale Santangeli, Fermin C. Garcia, Francis E. Marchlinski, Matthew Craig Hyman Source Type: research

Genotype-Driven Pathogenesis of Atrial Fibrillation in Hypertrophic Cardiomyopathy: The Case of Different TNNT2 Mutations
Atrial dilation and atrial fibrillation (AF) are common in Hypertrophic CardioMyopathy (HCM) patients and associated with a worsening of prognosis. The pathogenesis of atrial myopathy in HCM remains poorly investigated and no specific association with genotype has been identified. By re-analysis of our cohort of thin-filament HCM patients (Coppini et al. 2014) AF was identified in 10% of patients with sporadic mutations in the cardiac Troponin T gene (TNNT2), while AF occurrence was much higher (25–75%) in patients carrying specific “hot-spot” TNNT2 mutations. To determine the molecular basis of arrhythmia occurrence...
Source: Frontiers in Physiology - April 19, 2022 Category: Physiology Source Type: research

Pressure –Strain Loops, a Novel Non-invasive Approach for Assessment of Children with Cardiomyopathy
AbstractNon-invasive myocardial work (MW) by left ventricular (LV) pressure –strain loops (PSL) is a novel method for assessing myocardial function while adjusting for afterload, yet pediatric data remain lacking. The aims of this study were to investigate the different patterns of LV PSL and non-invasive MW in pediatric patients with hypertrophic (HCM) and dilated cardio myopathy (DCM) and their association with exercise tolerance. We included 110 pediatric subjects (mean age, 13 ± 4 years, 35 DCM, 40 HCM, and 35 healthy controls). Standard and speckle-tracking echocardiography were performed. LV PSLs were generat...
Source: Pediatric Cardiology - April 11, 2022 Category: Cardiology Source Type: research

Major Adverse Dystrophinopathy Event Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy
Accurate assessments of heart failure (HF) severity in Duchenne Muscular Dystrophy (DMD) is challenging due to overlapping symptoms from cardiomyopathy, respiratory insufficiency, and skeletal myopathy. We developed an ordinal scale of multiorgan clinical variables and events graded for severity that reflect cumulative disease burden-the Major Adverse Dystrophinopathy Event (MADE) score. We hypothesized that a higher MADE score would be associated with increased mortality in DMD. We used the CINRG Duchenne Natural History Study (DNHS) dataset for MADE score validation.
Source: The Journal of Heart and Lung Transplantation - April 1, 2022 Category: Transplant Surgery Authors: B.D. Kaufman, A. Garcia, Z. He, M. Buu, C. Tesi-Rocha, J.W. Day, D.N. Rosenthal, H. Gordish-Dressman, C. Almond, T. Duong Tags: (200) Source Type: research

Echocardiographic Variables Predict Outcome In Children, Adolescents, And Adults With Barth Syndrome: A Longitudinal Observational Study
Barth Syndrome (BTHS) is an X-linked mitochondrial cardio-skeletal myopathy caused by defects in TAFAZZIN, the gene responsible for the final remodeling step to produce mature cardiolipin. Critical for mitochondrial function, lack of cardiolipin leads to clinical manifestations including cardiomyopathy (typically dilated and/or noncompaction), muscle weakness, fatigue, neutropenia, and growth abnormalities. Cardiac disease primarily drives outcome in BTHS. Natural history data, especially outcomes outside of infancy, are poorly understood.
Source: Journal of Cardiac Failure - April 1, 2022 Category: Cardiology Authors: Shahryar Chowdhury, Lanier Jackson, Tammy Churchill, Julia Buchanan, W. Todd Cade, Randall Bryant, Carolyn Taylor Tags: 057 Source Type: research

Successful Heart Transplantation in a Patient with Neonatal Marfan Syndrome
We describe a case of a teenage girl with NMS who developed inotrope-dependent heart failure secondary to dilated cardiomyopathy requiring heart transplantation.
Source: The Journal of Heart and Lung Transplantation - April 1, 2022 Category: Transplant Surgery Authors: S. Hussain, G. Geddes, R. Darragh, J.J. Parent Tags: (1285) Source Type: research

A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy
Glycogen is the primary form of glucose storage in animals, mainly in liver and skeletal muscle as well as in small amounts in the brain [1]. While glycogen maintains blood glucose homeostasis in liver, in muscle it provides an adequate bioenergetic supply during high-intensity exertion. Glycogen synthesis is started by glycogenin by sticking glucose residues from UDP glucose to organize the glycogen core unit; then, glycogen synthase and debranching enzyme add the glucose residues to build the whole glycogen molecule [2].
Source: Neuromuscular Disorders - March 31, 2022 Category: Neurology Authors: Olimpia Musumeci, Alessia Pugliese, Rosaria Oteri, Sara Volta, Anna Ciranni, Maurizio Moggio, Carmelo Rodolico, Antonio Toscano Tags: Case report Source Type: research

Biallelic variants in < em > TAMM41 < /em > are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
We report three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. Whole exome and genome sequencing identified compound heterozygous variants in TAMM41 in each proband. Western blot analysis in fibroblasts showed a mild oxidative phosphorylation (OXPHOS) defect in only one of the three affected individuals. In skeletal muscle samples, however, there was severe loss of subunits of complexes I-IV and a decrease in fully assembled OXPHOS complexes I-V in two subjects as well as decreased TAMM41 protein levels. Simil...
Source: Adv Data - March 24, 2022 Category: Epidemiology Authors: Kyle Thompson Lucas Bianchi Francesca Rastelli Florence Piron-Prunier Sophie Ayciriex Claude Besmond Laurence Hubert Magalie Barth In ês A Barbosa Charu Deshpande Manali Chitre Sarju G Mehta Eric J M Wever Pascale Marcorelles Sandra Donkervoort Dimah Saa Source Type: research