Congenital heart disease (CHD) is one of the most common major birth defects, yet its causes remain poorly understood. The interaction of genetic and environmental factors is widely accepted, including gestational diabetes, maternal exposures, and medications during pregnancy. Animal models illuminated environmental and genetic factors that disrupt heart development pathways. However, precise perturbations underlying human CHDs are still unclear. Advanced genetic and genomic approaches have facilitated CHD diagnosis and therapies, especially prenatal genetic testing, which has enabled significant advances in early CHD diagnosis and screening. As diagnosis and treatment improve survival into adulthood, new research directions have emerged. These include investigating the genetic basis of surgical outcomes and developing new therapies to improve quality of life.We aim to bring together new findings, ideas, comments, thoughts, and perspectives from basic, preclinical, and clinical researchers in CHD. Our goal is to deepen our understanding of recent advances in CHD's causes, diagnosis, and therapeutics. We hope that the contributions to this Research Topic will aid in the molecular diagnosis and treatment of CHDs.We welcome submissions from researchers utilizing human subjects, animal models, or basic science techniques. Original Research based on primary data is strongly encouraged, as well as article types including Methods, Hypothesis & Theory, Case reports, Clinical studies, Reviews, and Perspectives.This article collection focuses on the following aspects:1. Next-generation sequencing, linkage analysis, and GWAS for sporadic, familial CHDs with/without extracardiac congenital anomalies.2. Molecular mechanisms of CHD in animal models and the development of human iPSC models (2D/3D) for these diseases.3. The novel associations between genotype and phenotype (clinical manifestation, molecular imaging, electrophysiology, and echocardiography), diagnostic biomarker development, and molecular diagnosis of CHD.4. The interactions between genetics and genomic and environmental factors in CHDs.5. The associations between long-term outcomes and genotype in CHDs.6. Potential therapeutic methods and clinical trial studies for CHD.Please note that Case Reports that cover known or new variants in well-established disease-causing genes will not be accepted unless they are related to a significantly new phenotype or a different disorder.
Congenital heart disease (CHD) is one of the most common major birth defects, yet its causes remain poorly understood. The interaction of genetic and environmental factors is widely accepted, including gestational diabetes, maternal exposures, and medications during pregnancy. Animal models illuminated environmental and genetic factors that disrupt heart development pathways. However, precise perturbations underlying human CHDs are still unclear. Advanced genetic and genomic approaches have facilitated CHD diagnosis and therapies, especially prenatal genetic testing, which has enabled significant advances in early CHD diagnosis and screening. As diagnosis and treatment improve survival into adulthood, new research directions have emerged. These include investigating the genetic basis of surgical outcomes and developing new therapies to improve quality of life.We aim to bring together new findings, ideas, comments, thoughts, and perspectives from basic, preclinical, and clinical researchers in CHD. Our goal is to deepen our understanding of recent advances in CHD's causes, diagnosis, and therapeutics. We hope that the contributions to this Research Topic will aid in the molecular diagnosis and treatment of CHDs.We welcome submissions from researchers utilizing human subjects, animal models, or basic science techniques. Original Research based on primary data is strongly encouraged, as well as article types including Methods, Hypothesis & Theory, Case reports, Clinical studies, Reviews, and Perspectives.This article collection focuses on the following aspects:1. Next-generation sequencing, linkage analysis, and GWAS for sporadic, familial CHDs with/without extracardiac congenital anomalies.2. Molecular mechanisms of CHD in animal models and the development of human iPSC models (2D/3D) for these diseases.3. The novel associations between genotype and phenotype (clinical manifestation, molecular imaging, electrophysiology, and echocardiography), diagnostic biomarker development, and molecular diagnosis of CHD.4. The interactions between genetics and genomic and environmental factors in CHDs.5. The associations between long-term outcomes and genotype in CHDs.6. Potential therapeutic methods and clinical trial studies for CHD.Please note that Case Reports that cover known or new variants in well-established disease-causing genes will not be accepted unless they are related to a significantly new phenotype or a different disorder.