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Congenital Heart Disease

Congenital Heart Disease and Extracardiac Phenotypes Associated With Novel Pathogenic Variant in GATA6
 Congenital Heart Disease and Extracardiac Phenotypes Associated With Novel Pathogenic Variant in GATA6 1024 575 Jessica Nye, PhD
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A study published in Pediatric Research describes a novel pathogenic variant in the gene GATA binding protein 6 (GATA6) associated with congenital heart disease (CHD), diabetes mellitus and necrotizing enterocolitis.   GATA is a family of transcription factors that encode zinc finger DNA binding proteins which are critical regulators during organogenesis. Pathogenic variants in three…

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Racial Disparities in Healthcare Use Among Medicaid-Covered Children With Congenital Heart Disease
 Racial Disparities in Healthcare Use Among Medicaid-Covered Children With Congenital Heart Disease 1024 683 Lauren Dembeck
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In the United States, congenital heart disease is the most common birth anomaly, with almost 40,000 newborns diagnosed each year. As these children grow, they are at increased risk of developing cardiovascular complications. Thus, ensuring they receive recommended cardiology care is essential to their long-term health and well-being. Racial disparities in health outcomes have been…

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Counseling Families of Patients with Hypoplastic Left Heart Syndrome
 Counseling Families of Patients with Hypoplastic Left Heart Syndrome 150 150 Mary Bates, PhD
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A new survey investigates how palliation strategies have changed in the last ten years. Approximately ten years ago, researchers at Nationwide Children’s Hospital surveyed pediatric cardiac providers regarding initial counseling for families of patients with hypoplastic left heart syndrome (HLHS). Given the evolution of options and outcomes since that time, the team recently queried providers…

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Changing the Odds: Survival Trends in Children With Down Syndrome and Congenital Heart Defects
 Changing the Odds: Survival Trends in Children With Down Syndrome and Congenital Heart Defects 1024 683 Pam Georgiana
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Smiling baby with Down syndrome

About half of the children born with Down syndrome also have congenital heart defects (CHD). As a transplant cardiologist, Lydia K Wright, MD, wanted to learn if CHD was still the most significant mortality risk for these patients before age five. [1] “Our aim was to assess whether the survival rate of kids with Down…

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Susceptibility to and Use of E-cigarettes and Marijuana Is Common Among Adolescents With Congenital Heart Disease
 Susceptibility to and Use of E-cigarettes and Marijuana Is Common Among Adolescents With Congenital Heart Disease 1024 575 Lauren Dembeck
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Adolescents with congenital heart disease (CHD) are subject to disease-related stressors, such as attending medical appointments and undergoing medical procedures. They have elevated risk for cardiovascular and cognitive complications, which may be exacerbated by the use of e-cigarettes and marijuana. To inform prevention strategies for their long-term wellbeing, it is critical to understand patterns of…

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New Insights into the Role of the NOTCH1 Gene in Congenital Heart Defects
 New Insights into the Role of the NOTCH1 Gene in Congenital Heart Defects 150 150 Mary Bates, PhD
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Experiments in human cells identify how mutations in the NOTCH1 gene impact cardiac cell differentiation and proliferation. A new study published in Circulation Research provides novel insights into how mutations in the NOTCH1 gene may lead to abnormal differentiation and proliferation of cardiomyocytes and contribute to ventricular hypoplasia and other structural anomalies found in congenital…

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Discovering the Genetic Causes of Congenital Heart Defects
 Discovering the Genetic Causes of Congenital Heart Defects 1024 575 Lauren Dembeck
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By studying the genomes of children and members of their family, researchers have discovered novel disease genes in families impacted by cardiac defects. Congenital heart disease is a leading cause of death in children under one year of age, and evidence supports a strong genetic component underlying this group of common developmental defects. However, historically,…

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Are Adolescents With Congenital Heart Disease Getting Enough Physically Activity?
 Are Adolescents With Congenital Heart Disease Getting Enough Physically Activity? 1024 728 Mary Bates, PhD
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Study reports adolescents with congenital heart disease are less physically active than recommended, with gender playing a role. In a new study, researchers at Nationwide Children’s described physical activity patterns among high school-age adolescents with congenital heart disease (CHD) in the United States. The results, including analyses of the effects of gender and behavioral elements,…

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Additional Ventures: Investing in Congenital Heart Disease Research to Advance Care
 Additional Ventures: Investing in Congenital Heart Disease Research to Advance Care 150 150 Katie Brind'Amour, PhD, MS, CHES
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Additional Ventures is a purpose-driven nonprofit that has developed the Single Ventricle Research Fund (SVRF), an annual research award program dedicated to accelerating research and improving care for people with single ventricle heart defects. The fund supports investigators through multi-year, high-impact grants focused on different elements in their carefully structured research roadmap. By funding investigators…

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