Advances in Understanding the Genetics of Congenital Heart Defects

Dear Colleagues,

Congenital heart defects (CHDs) are the most common abnormalities, affecting almost 1% of newborn babies. These can occur in isolation or as a component of broader developmental syndromes. It is widely considered that CHDs have a major genetic component, but despite this, relatively few genes have been definitively shown to cause CHDs, and we are still some way from being able to offer prenatal diagnosis to at-risk families. With the aim of remedying this situation, major initiatives are underway, utilizing whole-exome and whole-genome sequencing, to identify genomic variants in CHD patients. Optimal filtering of the huge numbers of gene variants remains a challenge, and validation of these variants using in vitro and in vivo approaches, as well as confirmation of these variants in patients and their families, are also areas of significant activity.

In this Special Edition of JCDD, we welcome contributions focused on recent advances in understanding the genetics of CHDs using genetic, genomic, and bioinformatic approaches, as well as studies that validate/confirm gene variants as disease-causing.

Prof. Dr. Deborah Henderson
Prof. Dr. Qingping Feng
Guest Editors

Manuscript Submission Information

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