Pediatric Heart Disease: From Genetics to Clinical Therapy

Dear Colleagues,

Background & History of This Topic

Pediatric heart disease, including both congenital heart defects (CHDs) and acquired cardiomyopathies, has historically been a leading cause of mortality and morbidity in childhood. For decades, the field was defined primarily by surgical repairs and, afterward, by dealing with long-term complications.

However, the dawn of the genomic era completely transformed this paradigm. The introduction of next-generation sequencing (NGS) and advanced chromosomal microarrays allowed researchers to decode the complex genetic architecture of heart development. Today, pediatric cardiology has evolved from a purely anatomical discipline into a molecular one, where understanding a patient's specific genetic blueprint is becoming essential to predicting and managing their disease.

Moreover, both pharmacological and interventional strategies have emerged as new tools to treat this complex, nonetheless increasing, population.

Aim and Scope of the Special Issue

This Special Issue aims to bridge the critical gap between benchside genetic discovery and bedside clinical and interventional application in pediatric cardiology. By gathering high-quality, innovative research from global experts, this collection provides a multi-disciplinary framework to accelerate translational medicine.

The scope of this issue focuses specifically on:

Genomic Diagnostics: Novel methodologies in prenatal and postnatal genetic screening to identify pathogenic variants and modifiers.

Mechanistic Pathways: Insights into how genetic mutations disrupt early cardiac morphogenesis and molecular signaling.

Precision Management: Frameworks for translating genetic risk factors into tailored clinical monitoring, drug regimens, and surgical timing.

Ultimately, this collection seeks to provide a definitive roadmap for researchers and clinicians striving to replace standard, reactive treatments with proactive, personalized pediatric cardiac care.

Cutting-Edge Research

The contributions featured in this issue highlight the absolute forefront of innovation in the field, moving beyond traditional diagnostics into the realm of targeted intervention. Key research highlights include:

Advanced Functional Genomics: Utilizing patient-derived induced pluripotent stem cells (iPSCs) and 3D cardiac organoids to model specific genetic defects and screen potential drug responses in vitro.

Emerging Gene Therapies: Early-stage investigations into RNA-based therapeutics and CRISPR-mediated gene editing designed to correct or silence genetic mutations responsible for severe inherited cardiomyopathies.

AI-Enhanced Phenotyping: The integration of artificial intelligence to cross-reference massive genomic datasets with clinical imaging and electronic health records, optimizing long-term outcome predictions for individual patients.

Key Takeaway: Together, these papers demonstrate that the future of pediatric cardiology lies at the intersection of genetics and clinical therapy, transforming genetic data into life-saving, individualized treatments for young patients.

What kind of papers are we soliciting?

Research articles, state-of-the-art reviews, and systematic reviews

Dr. Rosaria Barracano
Dr. Giancarlo Scognamiglio
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• pediatric cardiology
• congenital heart disease
• genetics