Intestinal microbiota and metabolome perturbations in ischemic and idiopathic dilated cardiomyopathy
Various clinical similarities are present in ischemic (ICM) and idiopathic dilated cardiomyopathy (IDCM), leading to ambiguity on some occasions. Previous studies have reported that intestinal microbiota appea... (Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - January 22, 2024 Category: Research Authors: Yusheng Wang, Yandan Xie, Gehendra Mahara, Yanling Xiong, Yalan Xiong, Qifang Zheng, Jianqin Chen, Wei Zhang, Honghao Zhou and Qing Li Tags: Research Source Type: research
Diabetes mellitus is associated to high-risk late gadolinium enhancement and worse outcomes in patients with nonischemic dilated cardiomyopathy
Diabetes mellitus (DM) is associated with a worse prognosis in patients with heart failure. Our aim was to analyze the clinical and imaging features of patients with DM and their association with outcomes in c... (Source: Cardiovascular Diabetology)
Source: Cardiovascular Diabetology - January 20, 2024 Category: Cardiology Authors: Pablo Zulet, Fabi án Islas, Marcos Ferrández-Escarabajal, Ana Bustos, Beatriz Cabeza, Sandra Gil-Abizanda, María Vidal, Irene Martín-Lores, Paula Hernández-Mateo, J. Alberto de Agustín and Carmen Olmos Tags: Research Source Type: research
Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era
AbstractBecker muscular dystrophy (BMD) is an X-linked recessive disorder responsible for mild skeletal muscle involvement and variable degree of cardiomyopathy. The characteristics of cardiac phenotype of BMD in childhood remain elusive. Clinical manifestations, genotype, serum biomarkers, and echocardiogram were retrospectively reviewed in BMD patients. Cardiac phenotype was classified into acute progressive (AP), chronic persistent (CP), and latent (L) groups based upon symptoms and echocardiographic findings. Twenty-five BMD patients were studied over 9.5 ± 2.5 years. Sixteen patients presented initially with va...
Source: Pediatric Cardiology - January 19, 2024 Category: Cardiology Source Type: research
APLAID complicated with arrhythmogenic dilated cardiomyopathy caused by a novel PLCG2 variant
(Source: Immunologic Research)
Source: Immunologic Research - January 19, 2024 Category: Allergy & Immunology Source Type: research
Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era
AbstractBecker muscular dystrophy (BMD) is an X-linked recessive disorder responsible for mild skeletal muscle involvement and variable degree of cardiomyopathy. The characteristics of cardiac phenotype of BMD in childhood remain elusive. Clinical manifestations, genotype, serum biomarkers, and echocardiogram were retrospectively reviewed in BMD patients. Cardiac phenotype was classified into acute progressive (AP), chronic persistent (CP), and latent (L) groups based upon symptoms and echocardiographic findings. Twenty-five BMD patients were studied over 9.5 ± 2.5 years. Sixteen patients presented initially with va...
Source: Pediatric Cardiology - January 19, 2024 Category: Cardiology Source Type: research
Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy
ConclusionsThese data indicate that the DSV (g.4275G>T) and three SNPs [g.4949C>T (rs1191745927), g.5114G>A (rs112076877) and g.5252C>T (rs1356932911)] increase transcription activity ofTBX20 gene promoter in both HEK-293 and neonatal rat cardiomyocytes (NRCMs) cell lines by affecting the binding of transcription factors. But the mechanism remains to be verified in vivo. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Xue Gao,
Shuchao Pang,
Liangcai Ding,
Han Yan,
Yinghua Cui,
Bo Yan Tags: ORIGINAL ARTICLE Source Type: research
CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by < em > TTN < /em > Truncation Variants
CONCLUSIONS: TTN CRISPR activation rescued TTNtv-related functional deficits despite increasing truncated TTN levels, which provides evidence to support haploinsufficiency as a relevant genetic mechanism underlying heterozygous TTNtvs. CRISPR activation could be developed as a therapeutic to treat a large proportion of TTNtvs.PMID:38235591 | DOI:10.1161/CIRCULATIONAHA.123.063972 (Source: Circulation)
Source: Circulation - January 18, 2024 Category: Cardiology Authors: Shahnaz Ghahremani Aditya Kanwal Anthony Pettinato Feria Ladha Nicholas Legere Ketan Thakar Yanfen Zhu Harianto Tjong Andrea Wilderman W Tom Stump Lina Greenberg Michael J Greenberg Justin Cotney Chia-Lin Wei J Travis Hinson Source Type: research
Can right ventricular endomyocardial biopsy predict left ventricular fibrosis beforehand in dilated cardiomyopathy?
ConclusionsThe fibrosis observed in RV-EMB positively correlated with the extent of fibrosis in the LV of excised hearts in patients with DCM. The study findings may help predict LV fibrosis, considered a prognostic factor of DCM through relatively accessible biopsy techniques. (Source: ESC Heart Failure)
Source: ESC Heart Failure - January 18, 2024 Category: Cardiology Authors: Kisaki Amemiya,
Taka ‐aki Matsuyama,
Hatsue Ishibashi‐Ueda,
Yoshiaki Morita,
Manabu Matsumoto,
Keiko Ohta‐Ogo,
Yoshihiko Ikeda,
Yasumasa Tsukamoto,
Norihide Fukushima,
Satsuki Fukushima,
Tomoyuki Fujita,
Kinta Hatakeyama Tags: Original Article Source Type: research
Genes, Vol. 15, Pages 112: Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome
Eric W. Klee
The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants affecting dimerization and intermolecular interactions, and heterozygous substitutions activating cryptic splice sites. These variants lead to different disorders, such as dilated cardiomyopathy and Hutchinson&ndash;Gilford progeria (HGP). Among these, the phenotypic terms for LMNA-associated cardiocutaneous progeria syndrome (LCPS), which...
Source: Genes - January 18, 2024 Category: Genetics & Stem Cells Authors: Matheus V. M. B. Wilke Myra Wick Tanya L. Schwab Rodrigo Tzovenos Starosta Karl J. Clark Heidi M. Connolly Eric W. Klee Tags: Case Report Source Type: research
A successful pulmonary artery banding in an infant with idiopathic dilated cardiomyopathy and severe heart failure
Kardiol Pol. 2024 Jan 17. doi: 10.33963/v.kp.97721. Online ahead of print.NO ABSTRACTPMID:38230477 | DOI:10.33963/v.kp.97721 (Source: Polish Heart Journal)
Source: Polish Heart Journal - January 17, 2024 Category: Cardiology Authors: Krzysztof Kocot Luiza Zalewska Grzegorz Zalewski Agata Morka Les ław Szydłowski Source Type: research
A successful pulmonary artery banding in an infant with idiopathic dilated cardiomyopathy and severe heart failure
Kardiol Pol. 2024 Jan 17. doi: 10.33963/v.kp.97721. Online ahead of print.NO ABSTRACTPMID:38230477 | DOI:10.33963/v.kp.97721 (Source: Kardiologia Polska)
Source: Kardiologia Polska - January 17, 2024 Category: Cardiology Authors: Krzysztof Kocot Luiza Zalewska Grzegorz Zalewski Agata Morka Les ław Szydłowski Source Type: research
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere
Heterozygous (HET) truncating variant mutations in the TTN gene (TTNtvs), encoding the giant titin protein, are the most common genetic cause of dilated cardiomyopathy (DCM). However, the molecular mechanisms by which TTNtv mutations induce DCM are controversial. Here, we studied 127 clinically identified DCM human cardiac samples with next-generation sequencing (NGS), high-resolution gel electrophoresis, Western blot analysis, and super-resolution microscopy in order to dissect the structural and functional consequences of TTNtv mutations. The occurrence of TTNtv was found to be 15% in the DCM cohort. Truncated titin prot...
Source: Journal of Clinical Investigation - January 16, 2024 Category: Biomedical Science Authors: Dalma Kellermayer, Hedvig Tordai, Balázs Kiss, György Török, Dániel M. Péter, Alex Ali Sayour, Miklós Pólos, István Hartyánszky, Bálint Szilveszter, Siegfried Labeit, Ambrus Gángó, Gábor Bedics, Csaba Bödör, Tamás Radovits, Béla Merkely, Source Type: research
TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance
Titin (TTN) is one of the largest and most complex proteins expressed in humans, and truncation variants are the most prevalent genetic lesion identified in individuals with dilated cardiomyopathy (DCM) or other disorders of impaired cardiac contractility. Two reports in this issue of the JCI shed light on a potential mechanism involving truncated TTN sarcomere integration and the potential for disruption of sarcomere structural integrity. Kellermayer, Tordai, and colleagues confirmed the presence of truncated TTN protein in human DCM samples. McAfee and authors developed a patient-specific TTN antibody to study truncated ...
Source: Journal of Clinical Investigation - January 16, 2024 Category: Biomedical Science Authors: J. Travis Hinson, Stuart G. Campbell Source Type: research
Truncated titin protein in dilated cardiomyopathy incorporates into the sarcomere and transmits force
(Source: Journal of Clinical Investigation)
Source: Journal of Clinical Investigation - January 16, 2024 Category: Biomedical Science Authors: Quentin McAfee, Matthew A. Caporizzo, Keita Uchida, Kenneth C. Bedi Jr., Kenneth B. Margulies, Zolt Arany, Benjamin L. Prosser Source Type: research
