Advances in Understanding the Genetics of Congenital Heart Defects
A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425). This special issue belongs to the section "Cardiac Development and Regeneration".
Deadline for manuscript submissions: closed (30 September 2023) | Viewed by 187
Special Issue Editors
Interests: cardiac development; arterial valves; outflow tract; second heart field; neural crest cells; heterotaxy
Special Issues, Collections and Topics in MDPI journals
2. Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5C1, Canada
Interests: cardiovascular development; congenital heart defects; maternal diabetes; heart failure; myocardial infarction; cardiac repair; sepsis; inflammatory response; cardiovascular physiology; cardiovascular pharmacology
Special Issue Information
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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Keywords
- congenital heart defects
- genetics
- genomics
- whole-exome sequencing
- whole-genome sequence
- variant of unknown significance
- variant validation
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