CONGCHEN BAI¹, QIHANG KONG², HAO TANG², SHUWEN ZHANG², JUNTENG ZHOU^3,*, XIAOJING LIU^2,4,*

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

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 (ssGSEA) gauged immune cell… More > Graphic Abstract

YAO LU^1,2,*, QIUYUE WANG¹, CAIHUI ZHANG¹

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

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 domain (NOD)-like receptor 3 (NLRP3)… More >

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 Baek^4,#,*, Beom Hee Lee^1,6,#,*

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

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 in the… More >

Jacqueline S. Lee^1,2, Angelica Blais^1,2, Julia Jackson¹, Bhavika J. Patel¹, Lillian Lai⁴, Gary Goldfield^1,3, Renee Sananes⁵, Patricia E. Longmuir^1,2,3,*

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

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, controlling for age, sex,… More >

Monique M. Gardner, Meryl S. Cohen

Congenital Heart Disease, Vol.12, No.6, pp. 783-786, 2017, DOI:10.1111/chd.12506

Abstract Background: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution.
Methods: We performed a retrospective review of patients diagnosed with RVNC over a 12- month period at our institution and reviewed their imaging and clinical course.
Results: Three patients were identified. All had diagnosis of RVNC… More >

Mark S. Link

Congenital Heart Disease, Vol.12, No.5, pp. 597-599, 2017, DOI:10.1111/chd.12494

Abstract Sudden cardiac death (SCD), particularly in the young athlete, is a rare though devastating event for families, institutions, and communities at large. It can also affect the nonathlete and occur at rest, although most commonly associated with exercise activities and/or sports participation. Common causes of SCD include cardiomyopathies, particularly hypertrophic cardiomyopathy in the United States, congenital coronary artery anomalies, channelopathies, among others. This report will explore an overview of the prevalence and causes of SCD in the young. More >

Kari L. Turkowski¹, David J. Tester^2,3, J. Martijn Bos^2,4, Kristina H. Haugaa⁵, Michael J. Ackerman^2,3,4

Congenital Heart Disease, Vol.12, No.2, pp. 226-235, 2017, DOI:10.1111/chd.12462

Abstract Background: Arrhythmogenic cardiomyopathy (ACM) is a heritable disease characterized by fibrofatty replacement of cardiomyocytes, has a prevalence of approximately 1 in 5000 individuals, and accounts for approximately 20% of sudden cardiac death in the young (≤35 years). ACM is most often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. While mutations in several genes that encode key desmosomal proteins underlie about half of all ACM, the remainder is elusive genetically. Objective: Here, whole exome sequencing (WES) was performed with genomic triangulation in an effort to identify a novel explanation for a phenotype-positive, genotype-negative multigenerational pedigree with… More >

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 >

Alex J. Thompson¹, Joseph A. Dearani², Jonathan N. Johnson^1,3, Hartzell V. Schaff², Eric C. Towe¹, Jared Palfreeman¹, Philip L. Wackel¹, Frank Cetta^1,3

Congenital Heart Disease, Vol.13, No.4, pp. 617-623, 2018, DOI:10.1111/chd.12618

Abstract Background: The transapical approach has been utilized in adult HCM patients with either midventricular obstruction or a small LV cavity; however, there are little data on its use in children.
Methods: We retrospectively reviewed all patients (age <21 years) with HCM who underwent a transapical myectomy from January 2002 to December 2016. Indication for surgery was midventricular obstruction in 19/23 (83%) and small LV cavity in 4 (17%). Preoperative symptoms included: dyspnea (96%), chest pain (65%), presyncope (61%), and syncope (35%). The mean age at the time of operation was 14 ± 4.0 years (range, 4–20).
Results: Overall, 23 patients… More >

Chao Luo¹, Canghong Shi¹, Xiaojie Li^{1, *}, 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

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 variability and are both subjective… More >