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Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
AbstractBarth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects inTAFAZZIN, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiogr...
Source: Pediatric Cardiology - March 3, 2022 Category: Cardiology Source Type: research

Cardiac Transplantation in Danon Disease
Danon disease (DD) is a rare X-linked dominant cardioskeletal myopathy caused by mutations in the lysosome-associated membrane protein-2 (LAMP-2) gene that is usually lethal without cardiac transplantation. The purpose of this study is to characterize post-transplant outcomes in a large cohort of DD patients who underwent cardiac transplantation.
Source: Journal of Cardiac Failure - November 10, 2021 Category: Cardiology Authors: Kimberly N. Hong, Carol Battikha, Sonya John, Andrew Lin, Quan Bui, Michela Brambatti, Garrett Storm, Kylie Boynton, Danielle Medina-Hernandez, Ana Garcia-Alvarez, Angeles Castel, Luis Garcia-Guereta, Carles Diez-Lopez, Laura Perez-Gomez, Daniela Miani, J Source Type: research

Prevalence and clinical outcomes of dystrophin ‐associated dilated cardiomyopathy without severe skeletal myopathy
ConclusionsDMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
Source: European Journal of Heart Failure - June 9, 2021 Category: Cardiology Authors: Maria A. Restrepo ‐Cordoba, Karim Wahbi, Anca R. Florian, Juan Jiménez‐Jáimez, Luisa Politano, Michael Arad, Vicente Climent‐Paya, Ana Garcia‐Alvarez, Rasmus B. Hansen, José M. Larrañaga‐Moreira, Milos Kubanek, Luis R. Lopes, And Tags: Research Article Source Type: research

072 Altered LA Strain in Bone Marrow Transplant (BMT) Patients Previously Treated With Anthracyclines: A Marker of an Atrial Myopathy
Strain analysis by echocardiography can help identify patients with subclinical left atrial (LA) impairment, which may help predict future cardiac dysfunction and arrhythmias.
Source: Heart, Lung and Circulation - November 8, 2020 Category: Cardiology Authors: P. Emerson, S. Mahendran, T. Deshmukh, L. Stefani, S. Trivedi, M. Hogg, P. Brown, M. Altman, S. Panicker, D. Gottlieb, L. Thomas Source Type: research

Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Conclusions: We demonstrate that R406W-desmin provokes its severe cardiotoxic potential by a novel pathomechanism, where the concurrent dual functional states of mutant desmin assembly complexes underlie the uncoupling of desmin filaments from intercalated discs and their structural disorganization. PMID: 33023321 [PubMed - as supplied by publisher]
Source: Circulation - October 7, 2020 Category: Cardiology Authors: Herrmann H, Cabet E, Chevalier NR, Moosmann J, Schultheis D, Haas J, Schowalter M, Berwanger C, Weyerer V, Agaimy A, Meder B, Müller OJ, Katus HA, Schlötzer-Schrehardt U, Vicart P, Ferreiro A, Dittrich S, Clemen CS, Lilienbaum A, Schröder R Tags: Circulation Source Type: research

When The “Genes” No Longer Fit: An Unusual Presentation of LMNA-related Cardiomyopathy
We present a case of high-grade AV block and septal ventricular tachycardia (VT) requiring orthotopic heart transplantation with post-transplant genetic testing showing LMNA-related dilated cardiomyopathy.
Source: Journal of Cardiac Failure - September 30, 2020 Category: Cardiology Authors: Justin Arunthamakun, Timothy Gong, Joshua Rutland, Matthew Wainwright, Dan Meyer, William C. Roberts, Praveen Rao, Amit Alam, Shelley Hall Tags: 298 Source Type: research

Single-Cell RNA Sequencing to Dissect the Immunological Network of Autoimmune Myocarditis.
Conclusions: We herein present a comprehensive single-cell landscape of the cardiac immune cells in different EAM phases. In addition, we elucidated the contribution of Hif1a to the inflammatory response through the regulation of immune cell activity, particularly of macrophage cluster 2 and Th17 cells. Moreover, a Hif1a inhibitor alleviated inflammatory cell infiltration of the EAM model and may serve as a potential therapeutic target in the clinic. PMID: 32431172 [PubMed - as supplied by publisher]
Source: Circulation - May 19, 2020 Category: Cardiology Authors: Hua X, Hu G, Hu Q, Chang Y, Hu Y, Gao L, Chen X, Yang PC, Zhang Y, Li M, Song J Tags: Circulation Source Type: research

Left ventricular assist device implantation in an adult male with Danon disease
We report the case of an adult male patient with dilated-phase hypertrophic cardiomyopathy secondary to Danon disease, who received an LVAD as a bridge to transplantation.<Learning objective: Some patients with Danon disease who underwent heart transplantation have been reported in Japan, but all were female. Male patients with Danon disease have more severe systemic comorbidities than females and heart failure progression is usually too rapid for them to be listed as heart transplant candidates. We present a rare case of an adult male with Danon disease who successfully underwent implantation of a left-ventricular ass...
Source: Journal of Cardiology Cases - July 9, 2019 Category: Cardiology Source Type: research

Skeletal Muscle Myopathy in Heart Failure: the Role of Ejection Fraction
AbstractPurpose of ReviewThis review summarizes: (1) the structural and functional features coupled with pathophysiological factors responsible of skeletal muscle myopathy (SMM) in both heart failure with reduced (HFrEF) and preserved (HFpEF) ejection fraction and (2) the role of exercise as treatment of SMM in these HF-related phenotypes.Recent FindingsThe recent literature showed two main phenotypes of heart failure (HF): (1) HFrEF primarily due to a systolic dysfunction of the left ventricle and (2) HFpEF, mainly related to a diastolic dysfunction. Exercise intolerance is one of most disabling symptoms of HF and it is s...
Source: Current Cardiology Reports - September 26, 2018 Category: Cardiology Source Type: research

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
ConclusionsThe clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent.ResumenIntroducción y objetivosLa enfermedad de Danon (ED) es una enfermedad producida por mutaciones en el gen LAMP2. Se la considera una enfermedad multisistémica caracterizada por miocardiopatía hipertrófica con preexcitación e hipertrofia extrema, discapacidad intelectual, miopatía, presentación infantil y peor pronóstico en varones. Hay pocas series que permitan conocer las características clínicas y e...
Source: Revista Espanola de Cardiologia - August 12, 2018 Category: Cardiology Source Type: research

Acetazolamide for Hypoventilation in a Congenital Myopathy Patient with Advanced Heart Failure after a Heart Transplant; a Case Report
A 61-year-old man was admitted to our hospital for further treatment of worsening congestive heart failure with a mechanical ventilation. He had undergone a heart transplant due to dilated cardiomyopathy complicated with congenital myopathy at the age of 43. He had been suffering from cardiac allograft vasculopathy and had a history of right ventricular infarction complicated with acute inferior myocardial infarction when he was 59. Since then, refractory right-sided heart failure occurred and additional diuretics were required.
Source: Journal of Cardiac Failure - September 20, 2017 Category: Cardiology Authors: Chiharuko Iio, Koichi Tamita, Tomohiko Shimizu, Mika Maeda, Jun Yamamuro Source Type: research

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction Original Articles
Conclusions— In contrast to dominant MYH6 mutations with variable penetrance identified in other congenital heart defects and dilated cardiomyopathy, this study reveals compound heterozygosity for recessive MYH6 mutations in patients with hypoplastic left heart and reduced systemic right ventricular ejection fraction. These findings implicate a shared molecular basis for the developmental arrest and latent myopathy of left and right ventricles, respectively.
Source: Circulation: Cardiovascular Genetics - August 18, 2015 Category: Cardiology Authors: Theis, J. L., Zimmermann, M. T., Evans, J. M., Eckloff, B. W., Wieben, E. D., Qureshi, M. Y., O'Leary, P. W., Olson, T. M. Tags: Contractile function, Clinical genetics, Cardiac development Original Articles Source Type: research

Nemaline myopathy and heart failure: Role of ivabradine; a case report
Conclusions: HF is a rare feature of NM, but it can negatively influence prognosis. Conventional HF therapy and/or heart transplant are the only reasonable strategy in these patients. Ivabradine is a useful, effective and safe drug for therapy in NM patients with HF and should be considered when resting HR remains high despite beta-blockers' full titration or beta-blockers' underdosing due to intolerance or side effects.
Source: BMC Cardiovascular Disorders - January 19, 2015 Category: Cardiology Authors: Filippo SarulloGiuseppe VitaleAntonino Di FrancoSilvia SarulloYlenia SalernoLaura VassalloEmanuela BavieraStefania MaraziaGiorgio MandalàGaetano Lanza Source Type: research

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