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JCDD
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Genetics of Congenital Heart Disease
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Genetics of Congenital Heart Disease

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425).

Deadline for manuscript submissions: closed (15 August 2018) | Viewed by 16023

Special Issue Editors

Prof. Dr. Lars Allan Larsen

E-Mail Website
Guest Editor
Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark
Interests: medical genetics; molecular genetics; genomics; mechanisms of embryonic development; congenital heart disease; cardiac development
Dr. Kim L. McBride

E-Mail Website
Guest Editor
Center for Cardiovascular Research, Nationwide Children's Hospital, and Department of Pediatrics, Ohio State University, Columbus, OH, USA
Interests: congenital heart disease; birth defect; genomics; genetics; cardiac development; cell and molecular biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

An upcoming Special Issue of JCDD will focus on the genetics of congenital heart disease.

Congenital heart disease (CHD) affects almost 1% of the population. Currently, most patients survive to reproductive age, and the number of adult patients with CHD is increasing. Both environmental and genetic factors can cause CHD. Genomic technologies like array CGH (Comparative Genomic Hybridization) and next generation sequencing have led to new discoveries and have improved our understanding of the genetics of congenital heart disease. The cause of CHD remains, nevertheless, unknown in the majority of cases and a continued effort in elucidating the complex genetic landscape of CHD is needed in order to progress towards improved counselling and treatment of patients. We hope that you will contribute to this effort by submitting your work for publication in this Special Issue of JCDD.

Prof. Dr. Lars Allan Larsen
Dr. Kim L. McBride
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. Journal of Cardiovascular Development and Disease is an international peer-reviewed open access monthly 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 2700 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
  • Genetics
  • Disease gene
  • Genomics

Published Papers (3 papers)

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Research

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12 pages, 2022 KiB  
Communication
Defective Vagal Innervation in Murine Tbx1 Mutant Hearts
by Amélie Calmont, Naomi Anderson, Jenifer P. Suntharalingham, Richard Ang, Andrew Tinker and Peter J. Scambler
J. Cardiovasc. Dev. Dis. 2018, 5(4), 49; https://doi.org/10.3390/jcdd5040049 - 23 Sep 2018
Cited by 6 | Viewed by 3454
Abstract
Haploinsufficiency of the T-box transcription factor TBX1 is responsible for many features of 22q11.2 deletion syndrome. Tbx1 is expressed dynamically in the pharyngeal apparatus during mouse development and Tbx1 homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest [...] Read more.
Haploinsufficiency of the T-box transcription factor TBX1 is responsible for many features of 22q11.2 deletion syndrome. Tbx1 is expressed dynamically in the pharyngeal apparatus during mouse development and Tbx1 homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. These abnormalities prompted us to investigate whether parasympathetic (vagal) innervation of the heart was affected in Tbx1 mutant embryos. In this report, we used an allelic series of Tbx1 mouse mutants, embryo tissue explants and cardiac electrophysiology to characterise, in detail, the function of Tbx1 in vagal innervation of the heart. We found that total nerve branch length was significantly reduced in Tbx1+/− and Tbx1neo2/− mutant hearts expressing 50% and 15% levels of Tbx1. We also found that neural crest cells migrated normally to the heart of Tbx1+/−, but not in Tbx1neo2 mutant embryos. In addition, we showed that cranial ganglia IXth and Xth were fused in Tbx1neo2/− but neuronal differentiation appeared intact. Finally, we used telemetry to monitor heart response to carbachol, a cholinergic receptor agonist, and found that heart rate recovered more quickly in Tbx1+/− animals versus controls. We speculate that this condition of decreased parasympathetic drive could result in a pro-arrhythmic substrate in some 22q11.2DS patients. Full article
(This article belongs to the Special Issue Genetics of Congenital Heart Disease)
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Review

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12 pages, 1155 KiB  
Review
The Role of scaRNAs in Adjusting Alternative mRNA Splicing in Heart Development
by Chloe Nagasawa, Allison Ogren, Nataliya Kibiryeva, Jennifer Marshall, James E. O’Brien, Naoya Kenmochi and Douglas C. Bittel
J. Cardiovasc. Dev. Dis. 2018, 5(2), 26; https://doi.org/10.3390/jcdd5020026 - 08 May 2018
Cited by 18 | Viewed by 6028
Abstract
Congenital heart disease (CHD) is a leading cause of death in children <1 year of age. Despite intense effort in the last 10 years, most CHDs (~70%) still have an unknown etiology. Conotruncal based defects, such as Tetralogy of Fallot (TOF), a common [...] Read more.
Congenital heart disease (CHD) is a leading cause of death in children <1 year of age. Despite intense effort in the last 10 years, most CHDs (~70%) still have an unknown etiology. Conotruncal based defects, such as Tetralogy of Fallot (TOF), a common complex of devastating heart defects, typically requires surgical intervention in the first year of life. We reported that the noncoding transcriptome in myocardial tissue from children with TOF is characterized by significant variation in levels of expression of noncoding RNAs, and more specifically, a significant reduction in 12 small cajal body-associated RNAs (scaRNAs) in the right ventricle. scaRNAs are essential for the biochemical modification and maturation of small nuclear RNAs (spliceosomal RNAs), which in turn are critical components of the spliceosome. This is particularly important because we also documented that splicing of mRNAs that are critical for heart development was dysregulated in the heart tissue of infants with TOF. Furthermore, we went on to show, using the zebrafish model, that altering the expression of these same scaRNAs led to faulty mRNA processing and heart defects in the developing embryo. This review will examine how scaRNAs may influence spliceosome fidelity in exon retention during heart development and thus contribute to regulation of heart development. Full article
(This article belongs to the Special Issue Genetics of Congenital Heart Disease)
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26 pages, 1802 KiB  
Review
Enlightening the Association between Bicuspid Aortic Valve and Aortopathy
by Froso Sophocleous, Elena Giulia Milano, Giulia Pontecorboli, Pierpaolo Chivasso, Massimo Caputo, Cha Rajakaruna, Chiara Bucciarelli-Ducci, Costanza Emanueli and Giovanni Biglino
J. Cardiovasc. Dev. Dis. 2018, 5(2), 21; https://doi.org/10.3390/jcdd5020021 - 19 Apr 2018
Cited by 18 | Viewed by 6127
Abstract
Bicuspid aortic valve (BAV) patients have an increased incidence of developing aortic dilation. Despite its importance, the pathogenesis of aortopathy in BAV is still largely undetermined. Nowadays, intense focus falls both on BAV morphology and progression of valvular dysfunction and on the development [...] Read more.
Bicuspid aortic valve (BAV) patients have an increased incidence of developing aortic dilation. Despite its importance, the pathogenesis of aortopathy in BAV is still largely undetermined. Nowadays, intense focus falls both on BAV morphology and progression of valvular dysfunction and on the development of aortic dilation. However, less is known about the relationship between aortic valve morphology and aortic dilation. A better understanding of the molecular pathways involved in the homeostasis of the aortic wall, including the extracellular matrix, the plasticity of the vascular smooth cells, TGFβ signaling, and epigenetic dysregulation, is key to enlighten the mechanisms underpinning BAV-aortopathy development and progression. To date, there are two main theories on this subject, i.e., the genetic and the hemodynamic theory, with an ongoing debate over the pathogenesis of BAV-aortopathy. Furthermore, the lack of early detection biomarkers leads to challenges in the management of patients affected by BAV-aortopathy. Here, we critically review the current knowledge on the driving mechanisms of BAV-aortopathy together with the current clinical management and lack of available biomarkers allowing for early detection and better treatment optimization. Full article
(This article belongs to the Special Issue Genetics of Congenital Heart Disease)
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