Journal of Cardiovascular Development and Disease

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Open AccessArticle

Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background

by Sara N. Koenig, Kevin M. Bosse, Holly A. Nadorlik, Brenda Lilly and Vidu Garg

J. Cardiovasc. Dev. Dis. 2015, 2(1), 17-30; https://doi.org/10.3390/jcdd2010017 - 09 Mar 2015

Cited by 28 | Viewed by 13985

Thoracic aortic aneurysms (TAA) are a significant cause of morbidity and mortality in humans. While the exact etiology is unknown, genetic factors play an important role. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV) and aortopathy in humans. The aim [...] Read more.

Thoracic aortic aneurysms (TAA) are a significant cause of morbidity and mortality in humans. While the exact etiology is unknown, genetic factors play an important role. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV) and aortopathy in humans. The aim of this study was to determine if haploinsufficiency of Notch1 contributes to aortopathy using Notch1^+/−; Nos3^−/− mice. Echocardiographic analysis of Notch1^+/−; Nos3^−/− mice reveals effacement of the sinotubular junction and a trend toward dilation of the aortic sinus. Furthermore, examination of the proximal aorta of Notch1^+/−; Nos3^−/− mice reveals elastic fiber degradation, a trend toward increased matrix metalloproteinase 2 expression, and increased smooth muscle cell apoptosis, features characteristic of aneurysmal disease. Although at a lower penetrance, we also found features consistent with aortopathic changes in Notch1 heterozygote mice and in Nos3-null mice. Our findings implicate a novel role for Notch1 in aortopathy of the proximal aorta. Full article

(This article belongs to the Special Issue Semilunar Valve Development and Disease)

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Open AccessReview

Cellular Mechanisms of Drosophila Heart Morphogenesis

by Georg Vogler and Rolf Bodmer

J. Cardiovasc. Dev. Dis. 2015, 2(1), 2-16; https://doi.org/10.3390/jcdd2010002 - 16 Feb 2015

Cited by 34 | Viewed by 9409

Abstract

Many of the major discoveries in the fields of genetics and developmental biology have been made using the fruit fly, Drosophila melanogaster. With regard to heart development, the conserved network of core cardiac transcription factors that underlies cardiogenesis has been studied in great [...] Read more.

Many of the major discoveries in the fields of genetics and developmental biology have been made using the fruit fly, Drosophila melanogaster. With regard to heart development, the conserved network of core cardiac transcription factors that underlies cardiogenesis has been studied in great detail in the fly, and the importance of several signaling pathways that regulate heart morphogenesis, such as Slit/Robo, was first shown in the fly model. Recent technological advances have led to a large increase in the genomic data available from patients with congenital heart disease (CHD). This has highlighted a number of candidate genes and gene networks that are potentially involved in CHD. To validate genes and genetic interactions among candidate CHD-causing alleles and to better understand heart formation in general are major tasks. The specific limitations of the various cardiac model systems currently employed (mammalian and fish models) provide a niche for the fly model, despite its evolutionary distance to vertebrates and humans. Here, we review recent advances made using the Drosophila embryo that identify factors relevant for heart formation. These underline how this model organism still is invaluable for a better understanding of CHD. Full article

(This article belongs to the Special Issue Highlights of the 2013 Berlin Meeting of the ESC working group on Development, Anatomy and Pathology)

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Open AccessEditorial

Acknowledgement to Reviewers of the Journal of Cardiovascular Development and Disease in 2014

by JCDD Editorial Office

J. Cardiovasc. Dev. Dis. 2015, 2(1), 1; https://doi.org/10.3390/jcdd2010001 - 09 Jan 2015

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Abstract

The editors of the Journal of Cardiovascular Development and Disease would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2014:[...] Full article

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J. Cardiovasc. Dev. Dis., Volume 2, Issue 1 (March 2015) – 3 articles , Pages 1-30

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