Transforming heart disease research with cardiac organoid technologies DOI Open Access

Durgapada Sarkhel

Published: Dec. 17, 2024

BackgroundCardiovascular diseases (CVDs) remain the leading global cause of morbidity and mortality, necessitating innovative research approaches to bridge translational gap between preclinical clinical settings.Traditional models, such as two-dimensional (2D) cell cultures animal are limited in replicating human cardiac physiology.Cardiac organoids, derived from pluripotent stem cells, have emerged transformative tools cardiovascular research, o ering 3D models that recapitulate key structural functional features heart. ObjectivesThis study aims explore potential organoids disease modelling, drug discovery, regenerative medicine while addressing current limitations proposing future directions for their application. MethodsA comprehensive review recent advancements organoid was conducted, focusing on methodologies generation, applications innovations overcome technical biological limitations.Emphasis placed integrating multi-omics technologies, arti cial intelligence (AI), bioengineering approaches. ResultsCardiac successfully modelled various conditions, including myocardial infarction, genetic cardiomyopathies, congenital heart defects.Multi-omics genomics, transcriptomics, proteomics, elucidated molecular mechanisms, AI-driven computational modelling has enhanced data analysis predictive simulations.Despite promise, challenges persist achieving vascularization, cellular maturity, scalability, limiting translation. ConclusionsCardiac er a physiologically relevant platform advancing research.Their revolutionize testing, personalized medicine, therapies underscores impact.Addressing through interdisciplinary innovations, vascularized systems organoid-on-chip platforms, will enhance utility.With continued advancements, hold promise improving therapeutic outcomes understanding diseases.

Language: Английский

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy DOI Open Access

Mahati Pidaparti,

Gabrielle C. Geddes, Matthew D. Durbin

et al.

Journal of Clinical Medicine, Journal Year: 2024, Volume and Issue: 13(9), P. 2544 - 2544

Published: April 26, 2024

Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity mortality worldwide. These conditions often caused by genetic factors, recent research has shown that genomic testing can provide valuable information for patient care. By identifying causes, healthcare providers screen other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, assess risk family members. Genetic is now standard care in patients with CHD cardiomyopathy. However, rapid advances technology greater availability options have led to changes recommendations most method. Several studies investigated utility this changing landscape. This review summarizes literature surrounding clinical evaluation

Language: Английский

Citations

5
Toll-like Receptors 1, 3 and 7 Activate Distinct Genetic Features of NF-κB Signaling and γ-Protocadherin Expression in Human Cardiac Fibroblasts DOI Creative Commons

Aditi Chaudhari,

Camila Axelsson,

Lillemor Mattsson Hultén

et al.

Inflammation, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 20, 2025

Abstract Fibroblasts play a pivotal role in key processes within the heart, particularly cardiac remodeling that follows both ischemic and non-ischemic injury. During remodeling, fibroblasts drive fibrosis inflammation by reorganizing extracellular matrix modulating immune response, including toll-like receptor (TLR) activation, to promote tissue stabilization. Building on findings from our prior research heart patients with advanced coronary artery disease aortic valve disease, this study sought explore specific effects of TLR1, TLR3, TLR7 activation NF-κB signaling, proinflammatory cytokine production, γ-protocadherin expression fibroblasts. Human were exposed agonists for or 24 h, followed an analysis expression. The these TLRs triggered distinct responses signaling pathway, TLR3 showing stronger profile compared TLR1 TLR7, downregulating These highlight potential amplifying inflammatory reducing levels fibroblasts, correlating enhanced lower observed diseased myocardium disease. Consequently, represents therapeutic target cardiovascular diseases.

Language: Английский

Citations

0
Rare Pathogenic NR2F2 (COUP-TFII) Variants as Potential Etiological Causes in Pediatric Patients with Congenital Heart Diseases (CHDs) DOI Creative Commons
Wasat Mansoor, Mohammad Heidari, Mehri Khatami

et al.

Hellenic Journal of Cardiology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 1, 2025

Congenital heart diseases (CHDs) are complex genetic disorders, and their basis is not yet fully understood. Nuclear receptor subfamily 2 group F member (NR2F2 or COUP-TFII) encodes a transcription factor which expressed at high levels during mammalian development. Few studies have identified heterozygous rare variants in the NR2F2 gene individuals with congenital disease (CHD). This study aimed to evaluate association between pathogenic alterations CHD risk. A case-control was conducted on of 135 patients (83 boys 52 girls) non-hereditary various types isolated who were undergoing open-heart surgery. Additionally, 95 matched healthy children without syndromic abnormalities selected. Using Sanger sequencing method, we five single nucleotide variations exons two three gene. These novel present any genomic variation databases. Four missense mutations (p.Pro159Arg, p.Ser329Phe, p.Qln338Pro, p.Tyr348Ser) one synonymous variant (p.G361=) coding region. Importantly, in-silico results indicated that had effects protein function. substantially altered predicted structure COUP-TFII. The obtained only validate correlation CHDs but also significant potential for guiding new preventive therapeutic strategies. could contribute advancement medical interventions fields cardiology genetics.

Language: Английский

Citations

0
Maternal di(2-ethylhexyl) phthalate exposure increases the risk of congenital heart disease in mice offspring DOI
Hon‐Yi Shi, Z. Zhang, An Shen

et al.

Pediatric Research, Journal Year: 2025, Volume and Issue: unknown

Published: March 15, 2025

Language: Английский

Citations

0
Congenital heart diseases (CHDs) and forensic investigations: Searching for the cause of death DOI Creative Commons
Francesco Sessa,

Mario Chisari,

Monica Salerno

et al.

Experimental and Molecular Pathology, Journal Year: 2024, Volume and Issue: 137, P. 104907 - 104907

Published: May 30, 2024

Congenital Heart Diseases (CHDs) are a group of structural abnormalities or defects the heart that present at birth. CHDs could be connected to sudden death (SD), defined by WHO (World Health Organization) as "death occurring within 24 h after onset symptoms" in an apparently "healthy" subject. These conditions can range from relatively mild severe, life-threatening anomalies. The prevalence varies across populations, but they affect millions individuals worldwide. This article aims discuss post-mortem investigation related CHDs, exploring forensic approach, current methodologies, challenges, and potential advancements this challenging field. A further goal is provide guide for understanding these complex diseases, highlighting pivotal role autopsy, histopathology, genetic investigations defining cause death, providing evidence about translational use autopsy reports. Forensic play crucial complexities determining accurately. Through collaboration between medical professionals experts, meticulous examinations, analysis evidence, valuable insights gained. not only closure families affected also contribute prevention future tragedies.

Language: Английский

Citations

1
Transforming heart disease research with cardiac organoid technologies DOI Open Access

Durgapada Sarkhel

Published: Dec. 17, 2024

BackgroundCardiovascular diseases (CVDs) remain the leading global cause of morbidity and mortality, necessitating innovative research approaches to bridge translational gap between preclinical clinical settings.Traditional models, such as two-dimensional (2D) cell cultures animal are limited in replicating human cardiac physiology.Cardiac organoids, derived from pluripotent stem cells, have emerged transformative tools cardiovascular research, o ering 3D models that recapitulate key structural functional features heart. ObjectivesThis study aims explore potential organoids disease modelling, drug discovery, regenerative medicine while addressing current limitations proposing future directions for their application. MethodsA comprehensive review recent advancements organoid was conducted, focusing on methodologies generation, applications innovations overcome technical biological limitations.Emphasis placed integrating multi-omics technologies, arti cial intelligence (AI), bioengineering approaches. ResultsCardiac successfully modelled various conditions, including myocardial infarction, genetic cardiomyopathies, congenital heart defects.Multi-omics genomics, transcriptomics, proteomics, elucidated molecular mechanisms, AI-driven computational modelling has enhanced data analysis predictive simulations.Despite promise, challenges persist achieving vascularization, cellular maturity, scalability, limiting translation. ConclusionsCardiac er a physiologically relevant platform advancing research.Their revolutionize testing, personalized medicine, therapies underscores impact.Addressing through interdisciplinary innovations, vascularized systems organoid-on-chip platforms, will enhance utility.With continued advancements, hold promise improving therapeutic outcomes understanding diseases.

Language: Английский

Citations

0