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Although clonal hematopoiesis of indeterminate potential (CHIP) is an adverse prognostic factor for atherosclerotic disease, its impact on nonischemic dilated cardiomyopathy (DCM) is elusive. The authors performed whole-exome sequencing and deep target sequencing among 198 patients with DCM and detected germline mutations in cardiomyopathy-related genes and somatic mutations in CHIP driver genes. Twenty-five CHIP driver mutations were detected in 22 patients with DCM. Ninety-two patients had cardiomyopathy-related pathogenic mutations. Multivariable analysis revealed that CHIP was an independent risk factor of left ventricular reverse remodeling, irrespective of known prognostic factors. CHIP exacerbated cardiac systolic dysfunction and fibrosis in a DCM murine model. The identification of germline and somatic mutations in patients with DCM predicts clinical prognosis.
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http://dx.doi.org/10.1016/j.jacbts.2024.04.010 | DOI Listing |
Spinal Cord
September 2025
Keio Spine Research Group (KSRG), Tokyo, Japan.
Study Design: Retrospective multicenter study.
Objectives: To identify predictors associated with failure of neurological improvement after posterior decompression surgery for degenerative cervical myelopathy (DCM).
Setting: 17 institutions in Japan.
Eur Heart J
September 2025
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA, Manuel de Falla, 2, Madrid 28222, Spain.
Genetic family screening following the detection of a pathogenic or likely pathogenic variant in a proband with dilated cardiomyopathy (DCM) remains one of the main applications of genetic testing. While cardiac screening is recommended for all first-degree relatives, the a priori risk among family members varies. Consequently, screening regimens should be tailored according to both genetic and clinical information at the individual and familial level.
View Article and Find Full Text PDFFront Pediatr
August 2025
Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases in Zabrze, Zabrze, Poland.
Introduction: Barth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid - cardiolipin. Symptoms of this genetic defect include dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth retardation, reduced cholesterol levels, increased serum lactic acid levels, and hypoglycemia in the neonatal period.
View Article and Find Full Text PDFSpine (Phila Pa 1976)
September 2025
Department of Orthopaedic Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160-8582, Japan.
Study Design: Prospective multicenter cohort study.
Objective: To compare clinical outcomes between posterior decompression without fusion (PD) and anterior cervical discectomy and fusion (ACDF) in patients with 1-2-level degenerative cervical myelopathy (DCM).
Summary Of Background Data: While numerous studies have assessed surgical strategies for multilevel DCM, limited evidence is available for cases involving only one or two levels.
JMIR Ment Health
September 2025
Institute for Health Innovation, Northern Kentucky University, Highland Heights, KY, 41099, USA.
Background: Although contingency management has shown some efficacy in substance use disorder treatment, digital contingency management (DCM) needs more evidence supporting its value in treating substance misuse.
Objective: This study aimed to evaluate the effectiveness of DCM in treating substance use disorder by examining 2 key outcome variables-abstinence and appointment attendance.
Methods: A 12-month quasi-experimental design was conducted by enrolling patients into 2 groups using an alternating assignment process: one group receiving treatment-as-usual plus DCM and the other receiving treatment as usual with no contingency management.