Novel Insights into Congenital Heart Disease: Pathophysiology, Biomarkers, and Future Directions

Submission Deadline: 31 December 2025 (closed) View: 1309 Submit to Journal

Guest Editor(s)

Prof. Dr. Keiichi Hirono

Email: khirono1973@gmail.com

Affiliation: Toyama University Hospital, Toyama City, 930-0194, Japan

Homepage:

Research Interests: Congenital Heart Disease, Cardiomyopathy, Kawasaki disease

Summary

This Special Issue will focus on the integration of genomic medicine into clinical practice for congenital heart disease (CHD). Topics include the role of genetic testing in early diagnosis, personalized therapeutic approaches guided by multi-omics data, and the application of gene-editing technologies. Additionally, clinical studies highlighting improved patient management and outcomes through precision medicine will be emphasized. By combining translational research with clinical insights, this issue aims to provide a comprehensive overview of innovative strategies for CHD care.

Keywords

Congenital Heart Disease, Genomic Medicine, Precision Medicine, Genetic Testing, Clinical Outcomes, Personalized Therapy

Published Papers

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ARTICLE

Dynamic Plasma Exosomal miRNA Profiling Uncovers Molecular Trajectories of Cardiac Repair following Cone Reconstruction for Ebstein’s Anomaly
Jiaxiong Wu, Runzhang Liang, Naijimuding ABUDUREXITI, Jing Ling, Zirui Peng, Jinxin Li, Canxin Wang, Yong Zhang, Haiyun Yuan, Shusheng Wen
Structural and Congenital Heart Disease, DOI:10.32604/schd.2026.077455
（This article belongs to the Special Issue: Novel Insights into Congenital Heart Disease: Pathophysiology, Biomarkers, and Future Directions)
Abstract Objective: Cone reconstruction (CR) is the preferred surgical treatment for Ebstein’s anomaly (EA). However, the molecular mechanisms underlying postoperative cardiac repair remain unclear. This study investigated the dynamic changes of plasma exosomal microRNAs (miRNAs) in EA patients before and after CR, exploring their association with postoperative cardiac function recovery and potential molecular mechanisms. Methods: Plasma samples were collected from 10 EA patients undergoing CR preoperatively, 1 day postoperatively, and 7 days postoperatively, along with samples from 10 healthy controls. Plasma exosomes were isolated using size-exclusion chromatography. Exosomal miRNAs were extracted and sequenced, followed by differential expression,… More >

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ARTICLE

Association Between Blood Biomarkers and Hemodynamic Parameters in Adolescents and Adults After the Fontan Procedure: A Retrospective Cohort Study
Kentaro Kogawa, Daishi Hirano, Yuka Okawa, Emi Kittaka, Shunsuke Baba, Reiji Ito
Congenital Heart Disease, Vol.20, No.6, pp. 659-671, 2025, DOI:10.32604/chd.2025.073864
（This article belongs to the Special Issue: Novel Insights into Congenital Heart Disease: Pathophysiology, Biomarkers, and Future Directions)
Abstract Background: An increasing number of patients with Fontan circulation are reaching adulthood; however, long-term outcomes remain limited by Fontan failure, which is characterized by elevated central venous pressure (CVP) and reduced cardiac output. Red blood cell distribution width (RDW), a readily available hematological parameter, is a known prognostic marker of heart failure. However, its relationship with invasive hemodynamics in adolescent and adult Fontan patients has not been fully examined. Objectives: To clarify the association between RDW and invasive hemodynamic indices in adolescent and adult Fontan patients and assess the utility of RDW as a noninvasive circulatory… More >

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ARTICLE

Prognostic Value of the Perioperative Neutrophil–Lymphocyte Ratio for Adverse Outcomes in Pediatric Congenital Heart Surgery: A Retrospective Cohort Study
Hande İştar, Buğra Harmandar, Melike Korkmaz Toker, Fulden Cantaş Türkiş
Congenital Heart Disease, Vol.20, No.4, pp. 503-517, 2025, DOI:10.32604/chd.2025.068540
（This article belongs to the Special Issue: Novel Insights into Congenital Heart Disease: Pathophysiology, Biomarkers, and Future Directions)
Abstract Background: The neutrophil–lymphocyte ratio (NLR) is a simple, cost-effective marker of systemic inflammation. This study aims to evaluate the association between perioperative NLR and postoperative outcomes in pediatric patients undergoing congenital heart surgery with cardiopulmonary bypass (CPB). Methods: We retrospectively reviewed 70 patients under 18 years of age who underwent surgery between 2018 and 2023. NLR was measured preoperatively and on postoperative days (POD) 0, 1, 2, 3, and 6. Receiver operating characteristic analysis identified optimal cutoffs, and associations with postoperative outcomes were assessed. Results: The preoperative NLR cutoff of 1.14 (AUC = 0.75) was associated with More >

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ARTICLE

A Tense Race: Correlation of Liver Stiffness with Ultrasound Elastography and Hemodynamics in Fontan Patients
Yuen Lo Yau, Matthew S. Purlee, Lindsey M. Brinkley, Dipankar Gupta, David M. Saulino, Dalia Lopez-Colon, John-Anthony Coppola, Dhanashree Rajderkar, Himesh Vyas
Congenital Heart Disease, Vol.20, No.2, pp. 265-272, 2025, DOI:10.32604/chd.2025.065661
（This article belongs to the Special Issue: Novel Insights into Congenital Heart Disease: Pathophysiology, Biomarkers, and Future Directions)
Abstract Background: Patients with Fontan physiology are predisposed to congestive hepatopathy, progressive liver fibrosis, and end-stage liver disease. Ultrasound-based shear wave elastography (SWE) is a non-invasive tool to diagnose and monitor liver fibrosis. We sought to determine whether the degree of hemodynamic derangement prior to and after the Fontan operation is associated with increased liver stiffness measured by SWE. Methods: A single-center retrospective study of patients with Fontan circulation who underwent ultrasound elastography between 2008 and 2024 was conducted. Liver stiffness was measured by SWE and reported as velocity in m/s. Hemodynamic assessment with cardiac catheterization and… More >

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Novel Insights into Congenital Heart Disease: Pathophysiology, Biomarkers, and Future Directions

Guest Editor(s)

Summary

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Published Papers

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135

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29

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782

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375

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6867

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4284

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1597

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944

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