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Condition: Cardiomyopathy

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Total 870 results found since Jan 2013.

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report
We describe the case of a 15-year-old girl who complained of fever and shortness of breath. Diaphragmatic sonography revealed bilateral diaphragmatic paralysis. Shortness of breath progressed to respiratory failure approximately 3 months later. Diagnosis: A neurologist was consulted and genetic sequencing identified a p.Pro209Leu mutation in BAG-3, yielding diagnosis of BAG-3 MFM leading to bilateral diaphragmatic paralysis. Interventions: Respiratory muscle training and long-term mechanical ventilation. Outcomes: It is quite unfortunate for this patient to have a poor prognosis due to the lack of ef...
Source: Medicine - January 7, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Myopathy-associated G154S mutation causes important changes in the conformational stability, amyloidogenic properties, and chaperone-like activity of human αB-crystallin
Biophys Chem. 2021 Dec 20;282:106744. doi: 10.1016/j.bpc.2021.106744. Online ahead of print.ABSTRACTGlycine to serine substitution at position 154 of human αB-crystallin (αB-Cry) is behind the development of cardiomyopathy and late-onset distal myopathy. The current study was conducted with the aim to investigate the structural and functional features of the G154S mutant αB-Cry using various spectroscopic techniques and microscopic analyses. The secondary and tertiary structures of human αB-Cry were preserved mainly in the presence of G154S mutation, but the mutant protein indicated a reduced chaperone-like activity wh...
Source: Biophysical Chemistry - January 4, 2022 Category: Chemistry Authors: Kazem Khoshaman Maryam Ghahramani Mohammad Bagher Shahsavani Ali Akbar Moosavi-Movahedi Boris I Kurganov Reza Yousefi Source Type: research

Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met
Stem Cell Res. 2021 Dec 27;59:102640. doi: 10.1016/j.scr.2021.102640. Online ahead of print.ABSTRACTHuman iPSC cell line FAMRCi009-A was generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic variant. Patient-specific peripheral blood mononuclear cells were reprogrammed using non-integrative Sendai viruses. Generated iPSC lines showed normal karyotype, expressed pluripotency markers and exhibited trilineage differentiation potential in vitro. The reported iPSC lines could be used for a deeper study of filaminopathies.PMID:34971933 | DOI:10.1016/j.scr.2021.102640
Source: Cell Research - December 31, 2021 Category: Cytology Authors: Nataliia Rodina Aleksandr Khudiakov Kseniya Perepelina Aleksey Muravyev Aleksandr Boytsov Anna Zlotina Polina Sokolnikova Anna Kostareva Source Type: research

The effects of the tropomyosin cardiomyopathy mutations on the calcium regulation of actin-myosin interaction in the atrium and ventricle differ
Biochem Biophys Res Commun. 2021 Dec 17;588:29-33. doi: 10.1016/j.bbrc.2021.12.051. Online ahead of print.ABSTRACTThe molecular mechanisms of pathogenesis of atrial myopathy associated with hypertrophic (HCM) and dilated (DCM) mutations of sarcomeric proteins are still poorly understood. For this, one needs to investigate the effects of the mutations on actin-myosin interaction in the atria separately from ventricles. We compared the impact of the HCM and DCM mutations of tropomyosin (Tpm) on the calcium regulation of the thin filament interaction with atrial and ventricular myosin using an in vitro motility assay. We foun...
Source: Biochemical and Biophysical Research communications - December 23, 2021 Category: Biochemistry Authors: Galina V Kopylova Valentina Y Berg Anastasia M Kochurova Alexander M Matyushenko Sergey Y Bershitsky Daniil V Shchepkin Source Type: research

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations
This study supports the utility of patient-specific iPSC experimental platform in the exploration of mechanistic and phenotypic heterogeneity of different mutations within a cardiac disease-associated gene. The addition of genetically defined coculture of cardiac-constituent non-myocytes further expands the capabilities of this approach.
Source: Frontiers in Physiology - December 16, 2021 Category: Physiology Source Type: research

Determinants of fibrotic atrial cardiomyopathy in atrial fibrillation. A multicenter observational study of the RETAC (reseau europ éen de traîtement d’arrhythmies cardiaques)-group
ConclusionsAge, sex and AF-phenotype are the main determinants for the development of FAM. A low AF-SCORE  ≤ 2 is found in paroxysmal AF-patients of any age and younger patients with persistent AF irrespective of sex, and associated with favorable outcomes of PVI-only. Freedom from arrhythmia remains unsatisfactory with AF-SCORE ≥ 3 as found in older patients, particularly females, with pers istent AF, and future studies investigating adjunctive atrial ablations to PVI-only should focus on these groups of patients.Graphical abstract
Source: Clinical Research in Cardiology - December 2, 2021 Category: Cardiology Source Type: research

Impact of Comorbidities on Atrial Fibrillation and Sudden Cardiac Death in Hypertrophic Cardiomyopathy
ConclusionsIn adult HCM patients comorbidities do not appear to impact AF or SCD risk. Therefore, for most patients with HCM adverse disease related events of AF and SCD appear to be primarily driven by underlying left ventricular and atrial myopathy as opposed to comorbidities.This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - November 30, 2021 Category: Cardiology Authors: Aadhavi Sridharan, Martin S Maron, Richard T. Carrick, Christopher A Madias, Dou Huang, Craig Cooper, Jennifer Drummond, Barry J Maron, Ethan J Rowin Tags: ORIGINAL ARTICLE Source Type: research

Molecules, Vol. 26, Pages 6980: Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin
In this study, we designed 97-residue peptides, Tpm1.164–154 and Tpm3.1265–155, focusing on the actin-binding period 3 of two muscle isoforms. Using these peptides, we evaluated the effects of cardiomyopathy mutations: I92T and V95A in Tpm1.1, and congenital myopathy mutations R91P and R91C in Tpm3.12. We introduced a cysteine at the N-terminus of each fragment to promote the formation of the coiled-coil structure by disulfide bonds. Dimerization of the designed peptides was confirmed by gel electrophoresis in the presence and absence of dithiothreitol. Using circular dichroism, we showed that all mutations decreased c...
Source: Molecules - November 19, 2021 Category: Chemistry Authors: Balaganesh Kuruba Marta Kaczmarek Ma łgorzata Kęsik-Brodacka Magdalena Fojutowska Ma łgorzata Śliwinska Alla S. Kostyukova Joanna Moraczewska Tags: Article Source Type: research

Scleroderma Renal Crisis is Associated with High Mortality: A Real-World Study from India
CONCLUSION: In this single-centre study from a developing country, scleroderma renal crisis was associated with a dismal prognosis, despite the use of ACEI. The recent use of medium-high dose glucocorticoids was associated with SRC.PMID:34781657
Source: Journal of the Association of Physicians of India - November 16, 2021 Category: General Medicine Authors: Preksha Dwivedi Adarsh Mb Nupoor Acharya Raja Ramachandran Ritambhra Nada Shankar Naidu Shefali K Sharma Aman Sharma Sanjay Jain Varun Dhir Source Type: research