Genes, Vol. 15, Pages 200: Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias
Conclusions: Our study presents a highly sensitive and specific association of two polymorphisms in SCN5A with significant coronary artery stenoses in patients with potentially fatal ventricular arrhythmias. At the same time, these polymorphisms were not associated with arrhythmias themselves. Thus, SCN5A gene polymorphic variants may form a part of germ cell gene predisposition to ischemia. (Source: Genes)
Source: Genes - February 2, 2024 Category: Genetics & Stem Cells Authors: Anna Va šků Tom áš Novotný Jind řich Špinar Tags: Article Source Type: research
LncRNA CHKB-DT Downregulation Enhances Dilated Cardiomyopathy Through ALDH2
CONCLUSIONS: CHKB-DT is significantly downregulated in DCM. CHKB-DT acts as an energy metabolism-associated long noncoding RNA and represents a promising therapeutic target against DCM.PMID:38299365 | DOI:10.1161/CIRCRESAHA.123.323428 (Source: Circulation Research)
Source: Circulation Research - February 1, 2024 Category: Cardiology Authors: Xiang Nie Jiahui Fan Beibei Dai Zheng Wen Huaping Li Chen Chen Dao Wen Wang Source Type: research
The impact of type 2 diabetes mellitus on the clinical profile, myocardial fibrosis, and prognosis in non-ischemic dilated cardiomyopathy: a prospective cohort study
The impact of the coexistence of type 2 diabetes mellitus (T2DM) in patients with non-ischemic dilated cardiomyopathy (DCM) on clinical profiles, myocardial fibrosis, and outcomes remain incompletely understood. (Source: Cardiovascular Diabetology)
Source: Cardiovascular Diabetology - February 1, 2024 Category: Cardiology Authors: Yangjie Li, Hong Xian, Yuanwei Xu, Weihao Li, Jiajun Guo, Ke Wan, Jie Wang, Ziqian Xu, Qing Zhang, Yuchi Han, Jiayu Sun and Yucheng Chen Tags: Research Source Type: research
Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes
AbstractA deficiency of striated preferentially expressed gene (Speg), a member of the myosin light chain kinase family, results in abnormal myofibril structure and function of immature cardiomyocytes (CMs), corresponding with a dilated cardiomyopathy, heart failure and perinatal death. Mitochondrial development plays a role in cardiomyocyte maturation. Therefore, this study investigated whetherSpeg deficiency ( – / – ) in CMs would result in mitochondrial abnormalities.Speg wild-type andSpeg−/− C57BL/6 littermate mice were utilized for assessment of mitochondrial structure by transmission electron and confocal m...
Source: Basic Research in Cardiology - February 1, 2024 Category: Cardiology Source Type: research
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
ConclusionsWe report an autosomal dominant adult-onset distal hereditary motor neuronopathy with incomplete penetrance in women as a new phenotype related to a truncating variant in theBAG3 gene. Our findings expand the phenotypic spectrum ofBAG3-related disorders, which previously included dilated cardiomyopathy, myofibrillar myopathy and adult-onset Charcot-Marie-Tooth type 2 neuropathy. Variants inBAG3 should be considered in the differential diagnosis of distal hereditary motor neuronopathies. (Source: Journal of Neurology)
Source: Journal of Neurology - January 31, 2024 Category: Neurology Source Type: research
Continuous Variant Re-Classification: An Effective Tool in the Ongoing Quest to Escape Genetic Purgatory
Genotype, albeit to varying degrees, impacts the diagnosis, risk-stratification, and management of many genetic heart diseases (GHDs).1 Accordingly, since the start of the new millennium, genetic testing has evolved from a research-based investigational test to a class I recommended, standard of care clinical test for patients with inherited cardiac channelopathies and cardiomyopathies such as arrhythmogenic cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, dilated cardiomyopathy, hypertrophic cardiomyopathy, and long QT syndrome (LQTS). (Source: Heart Rhythm)
Source: Heart Rhythm - January 31, 2024 Category: Cardiology Authors: Michael J. Ackerman, John R. Giudicessi Source Type: research
Continuous variant reclassification: An effective tool in the ongoing quest to escape genetic purgatory
Genotype, albeit to varying degrees, affects the diagnosis, risk stratification, and management of many genetic heart diseases (GHDs).1 Accordingly, since the start of the new millennium, genetic testing has evolved from a research-based investigational test to a class I recommended, standard-of-care clinical test for patients with inherited cardiac channelopathies and cardiomyopathies such as arrhythmogenic cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, dilated cardiomyopathy, hypertrophic cardiomyopathy, and long QT syndrome (LQTS). (Source: Heart Rhythm)
Source: Heart Rhythm - January 31, 2024 Category: Cardiology Authors: Michael J. Ackerman, John R. Giudicessi Tags: Editorial Commentary Source Type: research
Transcatheter aortic valve replacement in the management of aortic insufficiency secondary to left ventricular assist device implantation: a case report
CONCLUSIONS: TAVR could be an effective, safe, and less invasive means of restoring ejection fraction for patients with a LVAD who develop severe AI.PMID:38249889 | PMC:PMC10797376 | DOI:10.21037/jtd-23-1642 (Source: Journal of Thoracic Disease)
Source: Journal of Thoracic Disease - January 22, 2024 Category: Respiratory Medicine Authors: Xiaodong Wang Yujie Lu Zhigang Liu Antonino S Rubino Bartlomiej Perek Daniel Wendt Calogera Pisano Guillaume Goudot Oliver Deutsch Xiaocheng Liu Source Type: research
