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This case report presents the management of tachycardiomyopathy (TCM) in a patient with Friedreich ataxia, a hereditary disorder characterized by progressive neurodegeneration and associated cardiac complications. The patient exhibited severe tachycardia-induced cardiac dysfunction, complicating the clinical picture due to the overlapping neurological symptoms of Friedreich ataxia. Utilizing a 3D mapping system, catheter ablation was performed to accurately identify and target the arrhythmogenic foci contributing to the patient's TCM. The procedure resulted in significant symptom relief and improvement in cardiac function, underscoring the potential benefits of advanced electrophysiological techniques in managing complex cases. This report highlights the importance of a multidisciplinary approach in diagnosing and treating cardiac manifestations in patients with Friedreich ataxia, as well as the efficacy of 3D mapping technology in guiding successful ablation therapies.
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http://dx.doi.org/10.1111/pace.15125 | DOI Listing |
Pacing Clin Electrophysiol
December 2024
Department of Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
This case report presents the management of tachycardiomyopathy (TCM) in a patient with Friedreich ataxia, a hereditary disorder characterized by progressive neurodegeneration and associated cardiac complications. The patient exhibited severe tachycardia-induced cardiac dysfunction, complicating the clinical picture due to the overlapping neurological symptoms of Friedreich ataxia. Utilizing a 3D mapping system, catheter ablation was performed to accurately identify and target the arrhythmogenic foci contributing to the patient's TCM.
View Article and Find Full Text PDFPediatr Pulmonol
December 2024
The Cystic Fibrosis Center, Department of Pulmonary, Critical Care and Sleep Medicine, Lenox Hill Hospital, Northwell Health, New York, New York, USA.
Background: Newborn screening (NBS) for cystic fibrosis (CF) was universally implemented in the United States in 2010 to improve disease outcomes. Despite universal screening, disparities in outcomes currently exist between people with CF (PwCF) with Black/African, Asian, Indigenous, and Latino/Hispanic ancestry in comparison to PwCF of European ancestry. This is in part because CFTR panels used for newborn screening are often based on variants common in European ancestries leading to higher rates of false negatives for PwCF from minoritized racial and ethnic groups.
View Article and Find Full Text PDFCerebellum
December 2024
Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Rua Tessália Vieira de Camargo, 126. Cidade Universitária "Zeferino Vaz" Campinas, Campinas, SP, 13083-887, Brazil.
Friedreich's Ataxia (FRDA) is the most common autosomal recessive ataxia worldwide and is caused by biallelic unstable intronic GAA expansions at FXN. With its limited therapy and the recent approval of the first disease-modifying agent for FRDA, the search for biological markers is urgently needed to assist and ease the development of therapies. MiRNAs have emerged as promising biomarkers in various medical fields such as oncology, cardiology, epilepsy and neurology as well.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Cardiology, Clinical and Molecular Medicine Department, Sapienza University of Rome, 00189 Rome, Italy.
For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing.
View Article and Find Full Text PDFJ Cell Sci
December 2024
Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Friedreich's ataxia (FRDA) is a neurodegenerative disorder characterized by severe neurological signs, affecting the peripheral and central nervous system, caused by reduced frataxin protein (FXN) levels. While several studies highlight cellular dysfunctions in neurons, there is limited information on the effects of FXN depletion in astrocytes and on the potential non-cell autonomous mechanisms affecting neurons in FRDA. In this study, we generated a model of FRDA cerebellar astrocytes to unveil phenotypic alterations that might contribute to cerebellar atrophy.
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