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Non-compaction of the ventricular myocardium associated with large patent ductus arteriosus: primary or secondary?
BMC Cardiovasc Disord
November 2024
Department of Cardiovascular Medicine, Children's Hospital of Chongqing Medical University, Chongqing, China.
Background: The absence of other structural heart disease is a prerequisite for the diagnosis of non-compaction of the ventricular myocardium (NVM). We also observed that the phenomenon of non-compaction in ventricular muscle in some large patent ductus arteriosus (PDA) patients in children. This study was aimed to explore the prognosis of NVM associated with large PDA in children and provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of NVM.
View Article and Find Full Text PDFDesmin-related myopathy manifested by various types of arrhythmias: a case report and literature review.
J Int Med Res
November 2024
Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
Desmin is a type III intermediate filament protein specifically expressed in muscle cells, which is encoded by the gene. Defects in the desmin protein and cytoskeletal instability may interfere with cardiac muscle conduction signals, a fundamental mechanism for arrhythmias in patients with desmin-related myopathy. This current case report presents a female patient in her early 20s who presented with early-onset complete atrioventricular block and complete left bundle branch block over the previous decade.
View Article and Find Full Text PDFArticle Synopsis
- Left ventricular noncompaction (LVNC) is a hereditary heart condition marked by unusual heart muscle structure, and this study specifically focused on biventricular noncompaction (BiVNC) in children to understand its clinical characteristics and genetic factors.
- The research involved 234 pediatric patients and revealed that BiVNC often leads to serious complications, including a higher incidence of congenital heart disease and reduced survival rates compared to other heart conditions.
- Findings indicated that patients with BiVNC frequently exhibited left ventricular dysfunction and a notable percentage had genetic variants linked to mitochondrial and developmental issues, emphasizing the need for thorough genetic screening for better patient outcomes.
Searching for genetic determinants for left ventricular non-compaction.
Quant Imaging Med Surg
October 2024
Institute of Medical Sciences, Jan Kochanowski University, Kielce, Poland.
Background: Left ventricular non-compaction (LVNC) is still a pathology around which there are numerous controversies regarding the criteria for its diagnosis, presentation, prognosis, and even classification into the appropriate group of diseases. So far, about 190 genes in which mutations may be associated with LVNC have been described, and in each of them, several to several dozen different have been discovered. We decided to analyze the frequency of single nucleotide variants (SNVs) in correlation to Petersen's criteria.
View Article and Find Full Text PDFLeft Ventricular Non-Compaction: Evolving Concepts.
J Clin Med
September 2024
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35128 Padua, Italy.
Left ventricular non-compaction (LVNC) is a rare heart muscle disease defined by the presence of prominent left ventricular trabeculation, deep intertrabecular recesses, and a thin compact layer. Several hypotheses have been proposed regarding its pathogenesis, with the most recently accepted one being that compact layer and trabeculated layers develop independently according to an "allometric growth". The current gold-standard diagnostic criteria (in particular, the Petersen index non-compaction/compaction ratio > 2.
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