Short Communication - Biology & Medicine Case Reports (2025) Volume 9, Issue 2
Chd: Multidisciplinary advances for personalized care
Laura Williams*
Department of Cardiology, University of Oxford, Oxford, UK
- *Corresponding Author:
- Laura Williams
Department of Cardiology
University of Oxford, Oxford, UK.
E-mail: laura.williams@oxford.ac.uk
Received : 04-Apr-2025, Manuscript No. AABMCR-203; Editor assigned : 08-Apr-2025, PreQC No. AABMCR-203(PQ); Reviewed : 28-Apr-2025, QC No AABMCR-203; Revised : 07-May-2025, Manuscript No. AABMCR-203(R); Published : 16-May-2025 , DOI : 10.35841/ bmcr-9.2.203
Citation: Williams L. Chd: Multidisciplinary advances for personalized care. aabmcr. 2025;09(02):203.
Introduction
This article provides an in-depth review of the genetic factors contributing to congenital heart disease (CHD), highlighting recent breakthroughs in genomic sequencing and gene editing technologies. It discusses how these advancements are improving diagnostic precision and paving the way for targeted therapies, underscoring the complex interplay of genetics and environmental factors in CHD etiology.[1] This systematic review and meta-analysis evaluates the effectiveness and accuracy of non-invasive prenatal diagnosis (NIPD) for congenital heart disease (CHD). It synthesizes evidence on various NIPD techniques, assessing their potential to identify CHD early and non-invasively, which could significantly impact prenatal counseling and management strategies.[2] This scoping review explores the expanding applications of Machine Learning (ML) in diagnosing and predicting outcomes for congenital heart disease (CHD). It highlights how ML algorithms analyze complex datasets from imaging, genetic, and clinical sources to improve diagnostic accuracy, risk stratification, and personalized treatment approaches.[3] This article discusses the latest advancements in fetal echocardiography, focusing on its crucial role in the early detection and comprehensive management of congenital heart disease (CHD). It emphasizes improved imaging techniques, the integration of 3D/4D technologies, and their impact on prenatal counseling and optimizing delivery and postnatal care strategies.[4] This comprehensive review explores the versatility and growing importance of cardiac MRI in assessing congenital heart disease (CHD) across all age groups, from children to adults. It details MRI's capabilities in providing detailed anatomical and functional information, crucial for diagnosis, surgical planning, and long-term follow-up in complex CHD cases.[5] This article reviews the impact of novel genetic technologies on the diagnosis of congenital heart defects (CHDs). It highlights the utility of whole exome sequencing, genome sequencing, and array comparative genomic hybridization in identifying genetic etiologies, thereby enhancing diagnostic yield and guiding personalized management for patients with CHDs.[6] This review delves into the significant role of 3D printing in revolutionizing surgical planning and simulation for complex congenital heart disease. It explains how patient-specific anatomical models improve surgeons' understanding of intricate cardiac malformations, facilitate procedure rehearsal, and enhance communication with patients and families, ultimately improving outcomes.[7] This article provides an overview of current guidelines and emerging techniques for echocardiographic evaluation of cardiac anomalies in pediatric patients. It discusses advancements in image acquisition and analysis, emphasizing their importance in accurate diagnosis, prognosis, and guiding management decisions for various congenital heart conditions in children.[8] This review examines trends and outcomes in the prenatal diagnosis of congenital heart disease over the last decade. It discusses how improvements in imaging technology, screening protocols, and multidisciplinary care have influenced detection rates, leading to better family counseling, preparation for delivery, and early postnatal intervention, improving overall prognosis.[9] This article explores the transformative impact of Artificial Intelligence (AI) on cardiac imaging for congenital heart disease (CHD). It highlights how AI algorithms enhance image interpretation, automate measurements, and assist in lesion detection, leading to more efficient and accurate diagnoses and improved patient care pathways in complex CHD scenarios.[10]
Conclusion
Recent advancements in understanding, diagnosing, and managing congenital heart disease (CHD) highlight a multidisciplinary approach. Genetic research, including genomic sequencing and gene editing, is enhancing diagnostic precision and paving the way for targeted therapies, acknowledging the complex interplay of genetics and environment. Prenatal diagnosis has seen significant improvements with non-invasive methods and advanced fetal echocardiography, leading to better early detection, family counseling, and optimized postnatal care. Beyond early detection, novel imaging techniques like cardiac MRI offer detailed anatomical and functional information for all age groups, crucial for diagnosis and surgical planning. Machine Learning and Artificial Intelligence are transforming cardiac imaging and diagnostics, improving accuracy, risk stratification, and personalized treatment through automated analysis and lesion detection. Surgical planning for complex CHD cases is also being revolutionized by 3D printing, enabling the creation of patient-specific models for enhanced understanding, procedure rehearsal, and improved outcomes. Pediatric echocardiography guidelines are continually evolving, emphasizing advanced image acquisition for accurate diagnosis and management. Collectively, these technological and methodological improvements across genetics, imaging, AI, and surgical preparation are leading to more efficient, accurate, and personalized care pathways for individuals with congenital heart disease.
References
- Jinhong L, Minxue Z, Zhihua Z. Genetic Landscape of Congenital Heart Disease: Recent Advances and Clinical Implications. J Am Heart Assoc. 2022-07-19;11(14):e025016.
- Qi Y, Zhimin L, Min H. Non-invasive prenatal diagnosis for congenital heart disease: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2023-03-01;61(3):301-310.
- Chun S, Cheng Z, Yanjun S. Machine Learning in the Diagnosis and Prognosis of Congenital Heart Disease: A Scoping Review. Diagnostics (Basel). 2023-01-20;13(2):297.
- Pradeep S, Ruchi S, Sunil G. Advancements in Fetal Echocardiography for Early Detection and Management of Congenital Heart Disease. J Perinatol. 2024-01-01;44(1):1-7.
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- Ignacio V, Dilip S, Mattia C. The Role of 3D Printing in Planning and Simulation for Complex Congenital Heart Disease Surgeries. JACC Cardiovasc Imaging. 2020-05-01;13(5):1205-1218.
- Rahul P, Kunal S, Sagar M. Echocardiographic evaluation of cardiac anomalies in pediatric patients: a review of current guidelines and emerging techniques. Pediatr Cardiol. 2023-03-01;44(3):521-532.
- Rana A, Jack R, Norman S. Prenatal Diagnosis of Congenital Heart Disease: Trends and Outcomes in the Last Decade. Semin Perinatol. 2019-08-01;43(5):334-345.
- Shi Z, Qian Z, Hao W. The impact of artificial intelligence on cardiac imaging for congenital heart disease. Front Cardiovasc Med. 2023-08-08;10:1222384.
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