Research Topic

Genetics and Genomics of Congenital Heart Disease

About this Research Topic

Congenital heart diseases (CHDs) are the most common birth defects accounting for almost one-third of all birth defects. The cause of CHDs is largely unknown. It is widely accepted that the cause of CHDs is the interaction between genes (from parents or de novo mutations) and environmental factors, such as gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, maternal exposure to alcohol or smoking, maternal use of certain medications including lithium and isotretinoin (Although the specific mechanism may not be clear, they are reported to be related to CHD). There are multiple experimental animal models regarding either the environmental factors or specific molecules that operate in the pathways involved in myocyte specification, differentiation, or cardiac morphogenesis during heart development. Additional genetic burden in specific genes is evident in patients with CHDs. Unfortunately, the perturbations of precise genetic, epigenetic or environmental factors in humans remains poorly understood.

Advances in diagnosis and treatment have allowed children with CHDs to survive well into adulthood. Besides genetic, epigenetic or environmental basis, the improvement of post-surgery outcomes, new treatments, and life quality of CHDs patients have become another research direction for CHD specialists. They are stepping into a new field to determine whether specific genotypes or alleles are associated with long-term outcomes of different surgical treatment.

This Research Topic will focus on the genetic, epigenetic and environmental contributors and their interactions in human, the associations between long-term outcomes and genotype, new clinical treatments, and the quality of life of CHDs patients.

On the basis of precursory works and information, we aim to elaborate how genetics and genomic result in or predispose an individual to CHD, to provide more evidence for the establishment of molecular diagnosis of CHDs to guide the family planning, and most importantly, to combine the scientific work of genetics and genomic in CHDs with clinical diagnosis and treatment.

We hope that the contributions to this Research Topic will aid in molecular diagnosis and treatment of CHDs. We welcome Original Research articles as well as Reviews on subtopics including, but not limited to:

• Next generation sequencing, linkage analysis and GWAS for sporadic, familial CHDs with/without extracardiac congenital anomalies.
• The mechanism of newly reported aberrations of genetics and genomic in CHDs.
• The interactions between genetics and genomic and environmental factors in CHDs.
• New insights of physiology and pathology of CHDs.
• Molecular diagnosis of CHDs.
• The associations between genotype and phenotype (clinical manifestation, molecular imaging, electrophysiology and echocardiography) in CHDs.
• The associations between long-term outcomes and genotype in CHDs.


Keywords: Congenital heart disease, Genetics, Genome, diagnostics, treatments


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Congenital heart diseases (CHDs) are the most common birth defects accounting for almost one-third of all birth defects. The cause of CHDs is largely unknown. It is widely accepted that the cause of CHDs is the interaction between genes (from parents or de novo mutations) and environmental factors, such as gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, maternal exposure to alcohol or smoking, maternal use of certain medications including lithium and isotretinoin (Although the specific mechanism may not be clear, they are reported to be related to CHD). There are multiple experimental animal models regarding either the environmental factors or specific molecules that operate in the pathways involved in myocyte specification, differentiation, or cardiac morphogenesis during heart development. Additional genetic burden in specific genes is evident in patients with CHDs. Unfortunately, the perturbations of precise genetic, epigenetic or environmental factors in humans remains poorly understood.

Advances in diagnosis and treatment have allowed children with CHDs to survive well into adulthood. Besides genetic, epigenetic or environmental basis, the improvement of post-surgery outcomes, new treatments, and life quality of CHDs patients have become another research direction for CHD specialists. They are stepping into a new field to determine whether specific genotypes or alleles are associated with long-term outcomes of different surgical treatment.

This Research Topic will focus on the genetic, epigenetic and environmental contributors and their interactions in human, the associations between long-term outcomes and genotype, new clinical treatments, and the quality of life of CHDs patients.

On the basis of precursory works and information, we aim to elaborate how genetics and genomic result in or predispose an individual to CHD, to provide more evidence for the establishment of molecular diagnosis of CHDs to guide the family planning, and most importantly, to combine the scientific work of genetics and genomic in CHDs with clinical diagnosis and treatment.

We hope that the contributions to this Research Topic will aid in molecular diagnosis and treatment of CHDs. We welcome Original Research articles as well as Reviews on subtopics including, but not limited to:

• Next generation sequencing, linkage analysis and GWAS for sporadic, familial CHDs with/without extracardiac congenital anomalies.
• The mechanism of newly reported aberrations of genetics and genomic in CHDs.
• The interactions between genetics and genomic and environmental factors in CHDs.
• New insights of physiology and pathology of CHDs.
• Molecular diagnosis of CHDs.
• The associations between genotype and phenotype (clinical manifestation, molecular imaging, electrophysiology and echocardiography) in CHDs.
• The associations between long-term outcomes and genotype in CHDs.


Keywords: Congenital heart disease, Genetics, Genome, diagnostics, treatments


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

31 October 2021 Abstract
31 January 2022 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

31 October 2021 Abstract
31 January 2022 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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