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 Prognostic role of brain natriuretic peptide in children of the first year of life with congenital heart defects: a prospective cohort study

2020 ◽  
Vol 1 (2) ◽  
pp. 10-17
Author(s):  
Irina V. Vakhlova ◽  
Ekaterina V. Saperova
Keyword(s):  
Cohort Study ◽  
Brain Natriuretic Peptide ◽  
Congenital Heart Defects ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Heart Defects ◽  
First Year ◽  
Prognostic Role ◽  
First Year Of Life

Background. Congenital heart defects (CHD) are the most common type of developmental anomalies in children. At present the early diagnosis of congestive heart failure (CHF) and CHF-associated pathologic conditions is becoming increasingly important for optimization of protocols for following up pediatric patients in the primary health care settings.Objective. The study aimed at determining the prognostic role of brain natriuretic peptide (BNP) as a diagnostic marker of CHF progression and development of CHF-associated pathological conditions in babies with CHD during the first year of life.Methods. A prospective cohort study was carried out in a total of 114 children of the first year of life. The main study group was comprised of 61 children with confirmed diagnosis of CHD, and the control group of 53 health status group I–IIA children without CHD.Results. Diagnostic role of BNP elevation > 30 pg/mL was determined. At this BNP level the risk for developing stage 2A CHF increased 7-fold (OR 7.5 [1.8–31.5]), for developing functional class (FC) 2 CHF — nearly 5-fold (OR 4.6 [1.3–16.0]), and for FC 3 CHF such risk increased 9-fold (OR 9.2 [2.3–36.1]). Our results demonstrated that the BNP level measurements can be used in clinical practice to determine the likelihood of persistence of symptoms of perinatal CNS injuries during the first year of life (OR 7.6 [1.7–34.5]) and protein and energy deficit (PED) (OR 9.5 [2.5–35.5]) in children with CHD.

scholarly journals Prognostic role of brain natriuretic peptide in children of the first year of life with congenital heart defects: a prospective cohort study

2020 ◽  
Vol 1 (2) ◽  
pp. 10-17
Author(s):  
Irina V. Vakhlova ◽  
Ekaterina V. Saperova
Keyword(s):  
Cohort Study ◽  
Brain Natriuretic Peptide ◽  
Congenital Heart Defects ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Heart Defects ◽  
First Year ◽  
Prognostic Role ◽  
First Year Of Life

Background. Congenital heart defects (CHD) are the most common type of developmental anomalies in children. At present the early diagnosis of congestive heart failure (CHF) and CHF-associated pathologic conditions is becoming increasingly important for optimization of protocols for following up pediatric patients in the primary health care settings.Objective. The study aimed at determining the prognostic role of brain natriuretic peptide (BNP) as a diagnostic marker of CHF progression and development of CHF-associated pathological conditions in babies with CHD during the first year of life.Methods. A prospective cohort study was carried out in a total of 114 children of the first year of life. The main study group was comprised of 61 children with confirmed diagnosis of CHD, and the control group of 53 health status group I–IIA children without CHD.Results. Diagnostic role of BNP elevation > 30 pg/mL was determined. At this BNP level the risk for developing stage 2A CHF increased 7-fold (OR 7.5 [1.8–31.5]), for developing functional class (FC) 2 CHF — nearly 5-fold (OR 4.6 [1.3–16.0]), and for FC 3 CHF such risk increased 9-fold (OR 9.2 [2.3–36.1]). Our results demonstrated that the BNP level measurements can be used in clinical practice to determine the likelihood of persistence of symptoms of perinatal CNS injuries during the first year of life (OR 7.6 [1.7–34.5]) and protein and energy deficit (PED) (OR 9.5 [2.5–35.5]) in children with CHD.

scholarly journals Prognostic role of brain natriuretic peptide in children of the first year of life with congenital heart defects: a prospective cohort study

2020 ◽  
Vol 1 (2) ◽  
pp. 10-17
Author(s):  
Irina V. Vakhlova ◽  
Ekaterina V. Saperova
Keyword(s):  
Cohort Study ◽  
Brain Natriuretic Peptide ◽  
Congenital Heart Defects ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Heart Defects ◽  
First Year ◽  
Prognostic Role ◽  
First Year Of Life

Background. Congenital heart defects (CHD) are the most common type of developmental anomalies in children. At present the early diagnosis of congestive heart failure (CHF) and CHF-associated pathologic conditions is becoming increasingly important for optimization of protocols for following up pediatric patients in the primary health care settings.Objective. The study aimed at determining the prognostic role of brain natriuretic peptide (BNP) as a diagnostic marker of CHF progression and development of CHF-associated pathological conditions in babies with CHD during the first year of life.Methods. A prospective cohort study was carried out in a total of 114 children of the first year of life. The main study group was comprised of 61 children with confirmed diagnosis of CHD, and the control group of 53 health status group I–IIA children without CHD.Results. Diagnostic role of BNP elevation > 30 pg/mL was determined. At this BNP level the risk for developing stage 2A CHF increased 7-fold (OR 7.5 [1.8–31.5]), for developing functional class (FC) 2 CHF — nearly 5-fold (OR 4.6 [1.3–16.0]), and for FC 3 CHF such risk increased 9-fold (OR 9.2 [2.3–36.1]). Our results demonstrated that the BNP level measurements can be used in clinical practice to determine the likelihood of persistence of symptoms of perinatal CNS injuries during the first year of life (OR 7.6 [1.7–34.5]) and protein and energy deficit (PED) (OR 9.5 [2.5–35.5]) in children with CHD.

scholarly journals Influence of ethnic origin on the pattern of congenital heart defects in the first year of life.

Heart ◽  
1995 ◽  
Vol 73 (2) ◽  
pp. 173-176 ◽  
Author(s):  
M. Sadiq ◽  
O. Stumper ◽  
J. G. Wright ◽  
J. V. De Giovanni ◽  
C. Billingham ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ethnic Origin ◽  
First Year ◽  
First Year Of Life

TRANSCRIPTION FACTORS AND CONGENITAL HEART DEFECTS

2006 ◽  
Vol 68 (1) ◽  
pp. 97-121 ◽  
Author(s):  
Krista L. Clark ◽  
Katherine E. Yutzey ◽  
D. Woodrow Benson
Keyword(s):  
Transcription Factors ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 827
Author(s):  
Lisa J. Martin ◽  
D Woodrow Benson
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Heart Development ◽  
Genetic Architecture ◽  
Congenital Heart ◽  
Rare Variants ◽  
Heart Defects ◽  
Genetic Origin ◽  
Genetic Studies ◽  
The Ideal

Congenital heart defects (CHD) are malformations present at birth that occur during heart development. Increasing evidence supports a genetic origin of CHD, but in the process important challenges have been identified. This review begins with information about CHD and the importance of detailed phenotyping of study subjects. To facilitate appropriate genetic study design, we review DNA structure, genetic variation in the human genome and tools to identify the genetic variation of interest. Analytic approaches powered for both common and rare variants are assessed. While the ideal outcome of genetic studies is to identify variants that have a causal role, a more realistic goal for genetic analytics is to identify variants in specific genes that influence the occurrence of a phenotype and which provide keys to open biologic doors that inform how the genetic variants modulate heart development. It has never been truer that good genetic studies start with good planning. Continued progress in unraveling the genetic underpinnings of CHD will require multidisciplinary collaboration between geneticists, quantitative scientists, clinicians, and developmental biologists.

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.

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