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  • Open Access

    ARTICLE

    Integrated Bioinformatics Analysis Identifies Vascular Endothelial Cell-Related Biomarkers for Hypertrophic Cardiomyopathy

    Ying Wang1, Weijun Zhang1, Fei Cai1, Yong Tao2,*

    Congenital Heart Disease, Vol.19, No.6, pp. 653-669, 2024, DOI:10.32604/chd.2025.060406 - 27 January 2025

    Abstract Background: Previous studies combined integrated scRNA-seq with bulk RNA data to screen biomarkers for cardiomyopathy. This study extended this approach to identify biomarkers specific for hypertrophic cardiomyopathy (HCM). Methods: Datasets GSE36961, GSE130036, GSE249925 and GSE203274 were analyzed in this study. ScRNA-seq analysis was employed to identify distinct cell populations. Differentially expression analysis was conducted to screen vascular endothelial cells (VECs)-related feature genes. After calculating VECs score, WGCNA was used to correlate gene modules with the VECs score. Key HCM biomarkers were determined using random forest analysis, and LASSO regression analyses to construct a diagnostic model… More >

  • Open Access

    ARTICLE

    Cardiac Rehabilitation by Pulmonary Artery Banding after Induced Dilated Cardiomyopathy: A Pilot Study on a Rodent Model

    Domenico Crea1, Arben Dedja1, Matteo Ponzoni1,2, Stefania Rizzo3, Alberto Cipriani4, Riccardo Bariani4, Kalliopi Pilichou3, Maria Bueno Marinas3, Danila Azzolina5, Massimo A. Padalino1,6,*

    Congenital Heart Disease, Vol.19, No.5, pp. 473-487, 2024, DOI:10.32604/chd.2025.057014 - 31 December 2024

    Abstract Background: Since 2015, the pulmonary artery banding (PAB), following the Giessen protocol, has treated end-stage heart failure in selected infants with preserved right ventricular function, acting as a bridge to transplant or recovery, as a result of ventricular-ventricular interaction. Objectives: To elucidate whether PAB is a feasible and reproducible procedure in a rodent model of pharmacologically induced dilated cardiomyopathy (DCM) and to evaluate PAB-induced ventricular rehabilitation. Methods: We used 49 Sprague-Dawley rats divided into four groups: a sham surgery control group, a healthy animal group undergoing PAB, a doxorubicin (DOX)- treated control group, and a DOX… More >

  • Open Access

    ARTICLE

    Diagnostic and classification value of immune-related lncRNAs in dilated cardiomyopathy

    CONGCHEN BAI1, QIHANG KONG2, HAO TANG2, SHUWEN ZHANG2, JUNTENG ZHOU3,*, XIAOJING LIU2,4,*

    BIOCELL, Vol.47, No.11, pp. 2517-2533, 2023, DOI:10.32604/biocell.2023.043864 - 27 November 2023

    Abstract Background: Various physiological mechanisms are linked to dilated cardiomyopathy (DCM) development, including oxidative stress, immune irregularities, inflammation, fibrosis, and genetic changes. However, precise molecular drivers of DCM, especially regarding abnormal immune responses, remain unclear. This study investigates immune-related long non-coding RNAs (lncRNAs) in DCM’s diagnostic and therapeutic potential. Methods: GSE141910, GSE135055, and GSE165303 datasets were acquired from the GEO database. LASSO, SVM-RFE, and random forest algorithms identified DCM-associated immune-related lncRNAs. Diagnostic capabilities were assessed by Nomogram and receiver operating characteristic (ROC) curves. Multivariate linear regression explored lncRNA correlations with ejection fraction. Single-sample gene set enrichment analysis… More > Graphic Abstract

    Diagnostic and classification value of immune-related lncRNAs in dilated cardiomyopathy

  • Open Access

    ARTICLE

    Hyperglycemia-induced myocardial fibrosis may be associated with pyroptosis and apoptosis of cardiomyoctes in diabetic mice

    YAO LU1,2,*, QIUYUE WANG1, CAIHUI ZHANG1

    BIOCELL, Vol.47, No.2, pp. 393-400, 2023, DOI:10.32604/biocell.2023.024944 - 18 November 2022

    Abstract Myocardial fibrosis is an important manifestation of diabetic cardiomyopathy. This study investigated the potential mechanism of diabetic myocardial fibrosis. Male C57BL/6J and db/db mice aged 8 weeks were randomly divided into the diabetic (DB) and control groups. At 20 weeks, the mouse heart was harvested and subjected to hematoxylin-eosin staining (HE) and Masson staining to investigate the degree of fibrosis. The expressions of transforming growth factor-beta 1 (TGF-β1), collagen-III, B-cell lymphoma-2 (Bcl2), Bcl2-associated X protein (Bax), cleaved gasdermin D (GSDMD), cysteinyl aspartate specific proteinase-1 (caspase-1), apoptosis-associated speck-like protein containing a CARD (ASC), and nucleotide-binding oligomerization… More >

  • Open Access

    ARTICLE

    High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

    Junsung Park1, Go Hun Seo2, Yena Lee1, Yunha Choi1, Minji Kang3, Hyo-Sang Do3, Young-Hwue Kim4, Jeong Jin Yu4, Ellen Ai-Rhan Kim5, Euiseok Jung5, Byong Sop Lee5, Jae Suk Baek4,#,*, Beom Hee Lee1,6,#,*

    Congenital Heart Disease, Vol.16, No.4, pp. 397-410, 2021, DOI:10.32604/CHD.2021.015167 - 19 April 2021

    Abstract Background and Method: The genetic cause of infantile-onset cardiomyopathy is rarely investigated. Here, we conducted whole exome sequencing (WES) and mitochondrial DNA (mtDNA) sequencing in eight patients with infantile-onset cardiomyopathy to identify genetic variations. Result: Among these patients, two (25%) had dilated cardiomyopathy (DCMP), two (25%) had left ventricular non-compaction (LVNC), and four (50%) had hypertrophic cardiomyopathy (HCMP). Except four patients identified prenatally, the remaining patients presented at a median age of 85.5 days. WES identified genetic variants in a total of seven (87.5%) patients and mtDNA sequencing in the other case. TPM1 and MYH7 variants were identified… More >

  • Open Access

    ARTICLE

    Higher Child-Reported Internalizing and Parent-Reported Externalizing Behaviors were Associated with Decreased Quality of Life among Pediatric Cardiac Patients Independent of Diagnosis: A Cross-Sectional Mixed-Methods Assessment

    Jacqueline S. Lee1,2, Angelica Blais1,2, Julia Jackson1, Bhavika J. Patel1, Lillian Lai4, Gary Goldfield1,3, Renee Sananes5, Patricia E. Longmuir1,2,3,*

    Congenital Heart Disease, Vol.16, No.3, pp. 255-267, 2021, DOI:10.32604/CHD.2021.014628 - 02 March 2021

    Abstract Background: Pediatric cardiology patients often experience decreased quality of life (QoL) and higher rates of mental illness, particularly with severe disease, but the relationship between them and comparisons across diagnostic groups are limited. This mixed-methods cross-sectional study assessed the association between QoL anxiety and behavior problems among children with structural heart disease, arrhythmia, or other cardiac diagnoses. Methods: Children (6–14 years, n = 76, 50% female) and their parents completed measures of QoL (PedsQL), behavior (BASC-2, subset of 19 children) and anxiety (MASC-2, children 8+ years). Pearson correlations/regression models examined associations between QoL, behavior and anxiety,… More >

  • Open Access

    ARTICLE

    Multi-Task Learning Using Attention-Based Convolutional Encoder-Decoder for Dilated Cardiomyopathy CMR Segmentation and Classification

    Chao Luo1, Canghong Shi1, Xiaojie Li1, *, Xin Wang4, Yucheng Chen3, Dongrui Gao1, Youbing Yin4, Qi Song4, Xi Wu1, Jiliu Zhou1

    CMC-Computers, Materials & Continua, Vol.63, No.2, pp. 995-1012, 2020, DOI:10.32604/cmc.2020.07968 - 01 May 2020

    Abstract Myocardial segmentation and classification play a major role in the diagnosis of cardiovascular disease. Dilated Cardiomyopathy (DCM) is a kind of common chronic and life-threatening cardiopathy. Early diagnostics significantly increases the chances of correct treatment and survival. However, accurate and rapid diagnosis of DCM is still challenge due to high variability of cardiac structure, low contrast cardiac magnetic resonance (CMR) images, and intrinsic noise in synthetic CMR images caused by motion artifact and cardiac dynamics. Moreover, visual assessment and empirical evaluation are widely used in routine clinical diagnosis, but they are subject to high inter-observer… More >

  • Open Access

    ABSTRACT

    Comparisons of Patient-specific Active and Passive Models for Left Ventricle in Hypertrophic Obstructive Cardiomyopathy

    Xueying Huang1,*, Long Deng2, Chun Yang3, Mary Lesperance4, Dalin Tang5

    Molecular & Cellular Biomechanics, Vol.16, Suppl.2, pp. 58-58, 2019, DOI:10.32604/mcb.2019.06969

    Abstract Hypertrophic cardiomyopathy (HCM) occurs in about 1 of every 500 adults in the general population. It has been reported that left ventricular outflow tract obstruction (LVOTO) is observed in 70% patients with HCM. Systolic anterior motion (SAM) of the mitral valve (MV) is the dominant cause of dynamic outflow tract obstruction in most patients with hypertrophic obstructive cardiomyopathy (HOCM). Currently, the hemodynamic mechanisms of SAM remain unclear. In this study, we developed 12 active and corresponding passive models based on 6 patients’ pre- and post-operative ECG-gated cardiac CT images of patients’ LV at the pre-SAM… More >

  • Open Access

    ABSTRACT

    Numerical Simulation of Myocardial Bridging in Patients with Hypertrophic Cardiomyopathy

    Mohammadali Sharzehee1, Yuan Chang2, Jiang-ping Song2, Hai-Chao Han1,*

    Molecular & Cellular Biomechanics, Vol.16, Suppl.2, pp. 16-17, 2019, DOI:10.32604/mcb.2019.07129

    Abstract A myocardial bridge (MB), a congenital anomaly of the coronary artery, occurs when a segment of the epicardial coronary artery goes underneath the myocardium. MBs are often observed in the middle part of the left anterior descending (LAD) artery. MB squeezes the vessel wall periodically and induces hemodynamic abnormalities which are correlated with angina and myocardial ischemia. The level of hemodynamics disturbances induced by MB depends on the myocardial bridge length, the degree of myocardial contractility, thickness, and location [1]. Hypertrophic cardiomyopathy (HCM), characterized by abnormal thickening of the heart wall, is a leading cause… More >

  • Open Access

    ARTICLE

    Mitochondrial DNA mutation “m.3243A>G”—Heterogeneous clinical picture for cardiologists (“m.3243A>G”: A phenotypic chameleon)

    Katharina Niedermayr1, Gerhard Pölzl2, Sabine Scholl‐Bürgi1, Christine Fauth3, Ulrich Schweigmann1, Edda Haberlandt1, Ursula Albrecht1, Manuela Zlamy1, Wolfgang Sperl4, Johannes A. Mayr4, Daniela Karall1

    Congenital Heart Disease, Vol.13, No.5, pp. 671-677, 2018, DOI:10.1111/chd.12634

    Abstract Objective: In general, a mitochondrial disorder is diagnosed on the basis of symptom combinations and confirmed by genetic findings. However, patients carrying the m.3243A>G mutation in the mitochondrial tRNA leucine 1 (MT‐TL1) do not always meet all the proposed criteria for the most frequently encountered mitochondrial syndrome “MELAS,” an acronym for Mitochondrial Encephalomyopathy, Lactic Acidosis, and at least one Stroke‐like episode. We here present various phenotypic characteristics of the mitochondrial mutation m.3243A>G with particular focus on cardiac manifestations.
    Methods and Results: We followed nine patients (1 month to 68 years old; median 42 years; four female and five male) from… More >

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