Genetics of Congenital Heart Diseases
A special issue of Cardiogenetics (ISSN 2035-8148).
Deadline for manuscript submissions: closed (25 January 2024)
Special Issue Editors
2. Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15224, USA
Interests: congenital heart disease; genetics; cardiac neural crest; second heart field; transcription factors; conotruncal anomalies; single ventricle
Special Issues, Collections and Topics in MDPI journals
Interests: cardiovascular genetics; heart failure; cardiomyopathies; cardiology
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Congenital heart diseases (CHDs) are the most common birth defect, affecting about 1% of neonates. CHD is the leading cause of morbidity and mortality, affecting approximately 40,000 babies born each year and over 2 million children and adults in the United States. A genetic contribution is strongly implicated in the pathogenesis of CHDs. Copy-number variations and chromosomal anomalies/aneuploidy are found in 8 to 25% of CHD patients. The largest genetic study of CHD from the Paediatric Cardiac Genomics Consortium (PCGC) using whole-exome sequencing identified that 8% of individuals are associated with de novo autosomal dominant variation and 2% of cases are attributed to autosomal recessive variation. The presence of a de novo variant is associated with extracardiac anomalies and worse clinical outcomes such as transplant-free survival and time to extubation after cardiac surgery. There is mounting evidence that therapies targeting the treatment of adult heart failure have been ineffective in the treatment of heart failure in patients with CHD, especially single ventricle physiology patients. It implies different pathomechanisms of congestive heart failure in patients with CHD and structurally normal hearts. Therefore, there is an urgent and increasing need to understand the genetic basis of CHDs for precise diagnosis, identifying at-risk patients before clinical symptoms develop, appropriate management, the determination of prognosis, and estimation of the risk of recurrence. This Special Issue is focused on the genetic contribution to congenital heart defects, including conotruncal anomalies and single ventricle physiology.
Dr. Jiuann-Huey Ivy Lin
Dr. Mousumi Moulik
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 100 words) can be sent to the Editorial Office for announcement on this website.
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. Cardiogenetics is an international peer-reviewed open access quarterly 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 1400 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.
Dr. Jiuann-Huey Ivy Lin
Dr. Mousumi Moulik
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 100 words) can be sent to the Editorial Office for announcement on this website.
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. Cardiogenetics is an international peer-reviewed open access quarterly 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 1400 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.
Keywords
- congenital heart disease
- conotruncal anomalies
- single ventricle
- transcription factors
- primary heart field
- second heart field
- cardiac neural crest cells
