Screening for congenital heart defects by transabdominal ultrasound - role of early gestational screening and importance of operator training

2015 ◽  
Vol 94 (3) ◽  
pp. 231-235 ◽  
Author(s):  
Taisto Sarkola ◽  
Tiina H. Ojala ◽  
Veli-Matti Ulander ◽  
Edgar Jaeggi ◽  
Olli M. Pitkänen
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Transabdominal Ultrasound ◽  
Operator Training

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

2010 ◽  
Vol 29 (5) ◽  
pp. 817-821 ◽  
Author(s):  
Reem S. Abu-Rustum ◽  
Linda Daou ◽  
Sameer E. Abu-Rustum
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Early Gestation

The Role of Telemedicine in Paediatric Cardiology

2013 ◽  
pp. 44-88
Author(s):  
Brian A. McCrossan ◽  
Frank A. Casey
Keyword(s):  
Economic Evaluation ◽  
Medical Imaging ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pilot Project ◽  
Clinical Service ◽  
Current Evidence ◽  
Paediatric Cardiology

Paediatric cardiology is a subspecialty ideally suited to telemedicine. A small number of experts cover large geographical areas and the diagnosis of congenital heart defects is largely dependent on the interpretation of medical imaging. Telemedicine has been applied to a number of areas within paediatric cardiology. However, its widespread uptake has been slow and fragmentary. In this chapter the authors examine the current evidence pertaining to telemedicine applied to paediatric cardiology, including their own experience, the importance of research and, in particular, economic evaluation in furthering telemedicine endeavours. Perhaps most importantly, they discuss the issues relating transitioning a pilot project into a sustainable clinical service.

Potential role of “omics” technique in prenatal diagnosis of congenital heart defects

2018 ◽  
Vol 482 ◽  
pp. 185-190
Author(s):  
Lizhu Chen ◽  
Johnny Guan ◽  
Qiuju Wei ◽  
Zhengwei Yuan ◽  
Mo Zhang
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Potential Role ◽  
Heart Defects

scholarly journals Role of Risk of Bias in Systematic Review for Chemical Risk Assessment: A Case Study in Understanding the Relationship Between Congenital Heart Defects and Exposures to Trichloroethylene

2018 ◽  
Vol 37 (2) ◽  
pp. 125-143 ◽  
Author(s):  
Daniele Wikoff ◽  
Jon D. Urban ◽  
Seneca Harvey ◽  
Laurie C. Haws
Keyword(s):  
Risk Assessment ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Risk Of Bias ◽  
Assessment Process ◽  
Chemical Risk ◽  
Chemical Risk Assessment

The National Academy of Science has recommended that a risk of bias (RoB; credibility of the link between exposure and outcome) assessment be conducted on studies that are used as primary data sources for hazard identification and dose–response assessment. Few applications of such have been conducted. Using trichloroethylene and congenital heart defects (CHDs) as a case study, we explore the role of RoB in chemical risk assessment using the National Toxicology Program’s Office of Health Assessment and Translation RoB tool. Selected questions were tailored to evaluation of CHD and then applied to 12 experimental animal studies and 9 epidemiological studies. Results demonstrated that the inconsistent findings of a single animal study were likely explained by the limitations in study design assessed via RoB (eg, lack of concurrent controls, unvalidated method for assessing outcome, unreliable statistical methods, etc). Such limitations considered in the context of the body of evidence render the study not sufficiently reliable for the development of toxicity reference values. The case study highlights the utility of RoB as part of a robust risk assessment process and specifically demonstrates the role RoB can play in objectively selecting candidate data sets to develop toxicity values.

scholarly journals Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network

PLoS Genetics ◽  
2021 ◽  
Vol 17 (9) ◽  
pp. e1009785
Author(s):  
Changming Tan ◽  
Siting Zhu ◽  
Zee Chen ◽  
Canzhao Liu ◽  
Yang E. Li ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Rapid Development ◽  
Core Stability ◽  
Mediator Complex ◽  
Transcriptional Networks ◽  
Adult Cardiomyocytes

Dysregulation of cardiac transcription programs has been identified in patients and families with heart failure, as well as those with morphological and functional forms of congenital heart defects. Mediator is a multi-subunit complex that plays a central role in transcription initiation by integrating regulatory signals from gene-specific transcriptional activators to RNA polymerase II (Pol II). Recently, Mediator subunit 30 (MED30), a metazoan specific Mediator subunit, has been associated with Langer-Giedion syndrome (LGS) Type II and Cornelia de Lange syndrome-4 (CDLS4), characterized by several abnormalities including congenital heart defects. A point mutation in MED30 has been identified in mouse and is associated with mitochondrial cardiomyopathy. Very recent structural analyses of Mediator revealed that MED30 localizes to the proximal Tail, anchoring Head and Tail modules, thus potentially influencing stability of the Mediator core. However, in vivo cellular and physiological roles of MED30 in maintaining Mediator core integrity remain to be tested. Here, we report that deletion of MED30 in embryonic or adult cardiomyocytes caused rapid development of cardiac defects and lethality. Importantly, cardiomyocyte specific ablation of MED30 destabilized Mediator core subunits, while the kinase module was preserved, demonstrating an essential role of MED30 in stability of the overall Mediator complex. RNAseq analyses of constitutive cardiomyocyte specific Med30 knockout (cKO) embryonic hearts and inducible cardiomyocyte specific Med30 knockout (icKO) adult cardiomyocytes further revealed critical transcription networks in cardiomyocytes controlled by Mediator. Taken together, our results demonstrated that MED30 is essential for Mediator stability and transcriptional networks in both developing and adult cardiomyocytes. Our results affirm the key role of proximal Tail modular subunits in maintaining core Mediator stability in vivo.

Hox and Tale transcription factors in heart development and disease

2018 ◽  
Vol 62 (11-12) ◽  
pp. 837-846 ◽  
Author(s):  
Fabienne Lescroart ◽  
Stephane Zaffran
Keyword(s):  
Transcription Factors ◽  
Congenital Heart Defects ◽  
Heart Development ◽  
Congenital Heart ◽  
Hox Genes ◽  
Heart Defects ◽  
First Year ◽  
First Year Of Life ◽  
Cardiac Mesoderm

Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often associated with cofactors including the TALE family transcription factors. From Drosophila to vertebrates, Hox genes have been shown to have a major role in heart development. In this review, we focus on the increasing evidence implicating the anterior Hox genes and the Tale family members during heart development both in the cardiac mesoderm and in neural crest cells. Congenital heart defects are the leading cause of death in the first year of life and a better understanding of the role of Hox and Tale factors is highly relevant to human pathologies and will provide novel mechanistic insights into the underlying defects.

scholarly journals Assessing the risk of preterm birth for newborns with congenital heart defects conceived following infertility treatments: a population-based study

Open Heart ◽  
2018 ◽  
Vol 5 (2) ◽  
pp. e000836 ◽  
Author(s):  
Karim Tararbit ◽  
Nathalie Lelong ◽  
François Goffinet ◽  
Babak Khoshnood
Keyword(s):  
Preterm Birth ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Population Based ◽  
Multiple Pregnancies ◽  
Maternal Characteristics ◽  
Paris Area ◽  
Infertility Treatments

ObjectivesTo quantify the risk of preterm birth (PTB) for newborns with congenital heart defects (CHDs) conceived following infertility treatments, and to examine the role of multiple pregnancies in the association between infertility treatments and PTB for newborns with CHD.MethodsWe used data from a population-based, prospective cohort study (EPICARD EPIdémiologie des CARDiopathies congénitales) including 2190 newborns with CHD and excluding cases with atrial septal defects born to women living in the Greater Paris area between May 2005 and April 2008. Statistical analysis included logistic regression to take into account potential confounders (maternal characteristics, invasive prenatal testing, CHD prenatal diagnosis, medically induced labour/caesarean section before labour, birth year). The role of multiple pregnancies was assessed using a path-analysis approach, allowing decomposition of the total effect of infertility treatments on the risk of PTB into its indirect (mediated by the association between infertility treatments and multiple pregnancies) and direct (mediated by mechanisms other than multiple pregnancies) effects.ResultsPTB occurred for 40.6% (95% CI 28.7 to 52.5) of newborns with CHD conceived following infertility treatments vs 12.7% (95% CI 11.3 to 14.2) for spontaneously conceived newborns (p<0.001). After taking into account potentially confounding factors, infertility treatments were associated with a 5.0-fold higher odds of PTB (adjusted OR=5.0, 95% CI 2.9 to 8.6). Approximately two-thirds of this higher risk of PTB associated with infertility treatments was an indirect effect (ie, due to multiple pregnancies) and one-third was a direct effect (ie, not mediated by multiple pregnancies).ConclusionNewborns with CHD conceived following infertility treatments are at a particularly high risk of PTB, exposing over 40% of them to the ‘double jeopardy’ of CHD and PTB.

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