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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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50 hot topic(s) found with the query "Congenital heart disease "

Genomic analyses implicate noncoding de novo variants in congenital heart disease
F Richter et al, Nature Genetics, June 29, 2020 (Posted: Jul-01-2020 8AM)


Down syndrome.
Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9 (Posted: Feb-27-2020 7AM)

Since the first description of trisomy 21, we have learned much about intellectual disability and genetic risk factors for congenital heart disease. Clinical trials to ameliorate intellectual disability in DS signal a new era in which therapeutic interventions based on knowledge of the molecular pathophysiology of DS can now be explored.


Genetic considerations for adults with congenital heart disease.
Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb (Posted: Feb-19-2020 9AM)

The population of adults with CHD is growing rapidly with advances in medical care. Genetic causes of CHD can be classified into: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. 20-30% of CHD cases have an established etiology. The role of genetics in the field is increasing.


Genetics of Congenital Heart Disease.
Williams Kylia et al. Biomolecules 2019 Dec (12) (Posted: Feb-07-2020 8AM)


The genetic workup for structural congenital heart disease.
Jerves Teodoro et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Dec (Posted: Feb-07-2020 8AM)


Genetic Contribution to Congenital Heart Disease (CHD).
Shabana N A et al. Pediatric cardiology 2020 Jan (1) 12-23 (Posted: Feb-07-2020 8AM)

The elucidation of genetic components remains difficult because it is a genetically heterogeneous disease. Currently, the major identified genetic causes include chromosomal abnormalities, large subchromosomal deletions/duplications, and point mutations. However, much more remains to be unraveled.


De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak Cigdem et al. Genome medicine 2020 Jan (1) 9 (Posted: Jan-17-2020 8AM)


Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease
E Fotieu et al, Circulation Genomics and Precision Medicine, October 2019 (Posted: Oct-19-2019 7AM)

We compared copy number variants present in 4634 nonsyndromic CHD cases derived from publicly available data resources and the literature, and >27?000 healthy individuals. We analyzed deletions and duplications independently and identified copy number variant regions exclusive to cases. These data were integrated with whole-exome sequencing data.


Impact of predictive medicine on therapeutic decision making: a randomized controlled trial in congenital heart disease
H Naci et al, NPJ Digital Medicine, March 2019 (Posted: Mar-25-2019 10AM)


Actions in Support of Newborn Screening for Critical Congenital Heart Disease — United States, 2011–2018
CDC MMWR, February 7, 2019 Brand (Posted: Feb-07-2019 2PM)


Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont Mary Ella et al. Circulation 2018 Nov (21) e653-e711 (Posted: Feb-04-2019 1PM)


Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome.
Cai Meiying et al. Medicine 2018 Dec 97(50) e13617 (Posted: Jan-02-2019 4PM)


Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage Dimuthu et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct (Posted: Oct-10-2018 7AM)


Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.
Luo Shiyu et al. Arquivos brasileiros de cardiologia 2018 Aug (Posted: Aug-29-2018 10AM)


Genetic evaluation of patients with congenital heart disease.
Geddes Gabrielle C et al. Current opinion in pediatrics 2018 Aug (Posted: Aug-29-2018 10AM)


Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.
Paige Sharon L et al. Circulation. Genomic and precision medicine 2018 Mar 11(3) e002097 (Posted: Mar-21-2018 5PM)


Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.
Kasparian Nadine A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar (Posted: Mar-06-2018 11AM)


Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost?
Perry Daniel J et al. Diseases (Basel, Switzerland) 2017 Dec 5(4) (Posted: Jan-03-2018 10AM)


Key Findings: Study Finds Infant Cardiac Deaths Have Declined in States that Mandate Screening for Critical Congenital Heart Disease
Brand (Posted: Dec-05-2017 4PM)


The Success of State Newborn Screening Policies for Critical Congenital Heart Disease
AR Kemper, JAMA, Dec 5, 2017 (Posted: Dec-05-2017 4PM)


Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths
R Abouk et al., JAMA, Dec 5, 2017 (Posted: Dec-05-2017 4PM)


CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
MMWR Weekly / August 25, 2017 / 66(33);888?890 Brand (Posted: Aug-24-2017 1PM)


Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease.
Geddes Gabrielle C et al. Pediatric cardiology 2017 Jul (Posted: Jul-26-2017 9AM)


Genetics and Genomics of Congenital Heart Disease.
Zaidi Samir et al. Circulation research 2017 Mar (6) 923-940 (Posted: May-02-2017 1PM)


Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.
Ito Seiji et al. Current cardiology reports 2017 Mar 19(3) 24 (Posted: Mar-01-2017 10AM)


Advances in the Genetics of Congenital Heart Disease- A Clinician’s Guide
GM Blue et al, JACC< February 2017 (Posted: Feb-21-2017 7AM)


Genetics of Congenital Heart Disease: Past and Present.
Muntean Iolanda et al. Biochemical genetics 2016 Nov (Posted: Feb-07-2017 9AM)


Emerging Field of Cardiomics: High-Throughput Investigations into Transcriptional Regulation of Cardiovascular Development and Disease.
Slagle Christopher E et al. Trends in genetics : TIG 2016 Oct (Posted: Oct-20-2016 3PM)


Genetics of bicuspid aortic valve aortopathy.
Andreassi Maria G et al. Current opinion in cardiology 2016 Nov (6) 585-592 (Posted: Oct-20-2016 3PM)


Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease
C Preus et al, PLOS Genetics, October 2016 (Posted: Oct-20-2016 3PM)


Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
CDC Public Health Grand Rounds, Septemeber 20, 2016 Brand (Posted: Sep-13-2016 3PM)


Genotype-phenotype Correlations of Hypertrophic Cardiomyopathy When Diagnosed in Children, Adolescents, and Young Adults.
Loar Robert W et al. Congenit Heart Dis 2015 Jun 10. (Posted: Aug-21-2015 10AM)


Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic Networks.
Lahm Harald et al. Curr. Genomics 2015 Jun (3) 141-58 (Posted: Aug-21-2015 10AM)


Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.
Postma Alex V et al. J. Hum. Genet. 2015 Jul 30. (Posted: Aug-21-2015 10AM)


A Rapid, High-Quality, Cost-Effective, Comprehensive, and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.
Wilson Kitchener D et al. Circ. Res. 2015 Aug 11. (Posted: Aug-21-2015 10AM)


Association analysis identifies new risk loci for congenital heart disease in Chinese populations.
Lin Yuan et al. Nat Commun 2015 8082 (Posted: Aug-21-2015 10AM)


Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
Sun RongRong et al. Cell Biochem. Biophys. 2015 Feb 1. (Posted: Aug-17-2015 2PM)


Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.
Postma Alex V et al. J. Hum. Genet. 2015 Jul 30. (Posted: Aug-04-2015 2PM)


Genetics and Genetic Testing in Congenital Heart Disease.
Cowan Jason R et al. Clin Perinatol 2015 Jun (2) 373-393 (Posted: Jun-19-2015 8AM)


Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner Joseph T et al. Circ. Res. 2014 Oct 24. (10) 884-96 (Posted: Feb-27-2015 11AM)


Key Findings: Estimating the impact of newborn screening for critical congenital heart defects in the United States
Brand (Posted: Feb-25-2015 0PM)


Facts about Congenital Heart Defects
Brand (Posted: Feb-25-2015 0PM)


Congenital Heart Defects (CHDs)
Brand (Posted: Feb-25-2015 0PM)


CDC Key Findings—Use of Special Education Services among Children with Congenital Heart Defects
Brand (Posted: Feb-25-2015 0PM)


State Legislation, Regulations, and Hospital Guidelines for Newborn Screening for Critical Congenital Heart Defects - United States, 2011-2014
CDC MMWR Article, June 18, 2015 Brand (Posted: Feb-25-2015 0PM)


Congenital Heart Defects
From NHLBI health topic site Brand (Posted: Jan-01-2014 0AM)

What Is Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve: ?The interior walls of the heart ?The valves inside the heart ?The arteries and veins that carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the heart. There are many types of congenital heart defects. They range from simple defects with no symptoms to complex defects with severe, life-threatening symptoms. Congenital heart defects are the most common type of birth defect. They affect 8 out of every 1,000 newborns. Each year, more than 35,000 babies in the United States are born with congenital heart defects. Many of these defects are simple conditions. They need no treatment or are easily fixed. Some babies are born with complex congenital heart defects. These defects require special medical care soon after birth. The diagnosis and treatment of complex heart defects has greatly improved over the past few decades. As a result, almost all children who have complex heart defects survive to adulthood and can live active, productive lives. Most people who have complex heart defects continue to need special heart care throughout their lives. They may need to pay special attention to how their condition affects issues such as health insurance, employment, birth control and pregnancy, and other health issues. In the United States, more than 1 million adults are living with congenital heart defects. Other Names ?Congenital heart disease ?Heart defects ?Congenital cardiovascular malformations


Shoulder and thorax deformity congenital heart disease
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Short limbs abnormal face congenital heart disease
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Congenital heart disease radio ulnar synostosis mental retardation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Congenital heart disease ptosis hypodontia craniostosis
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)



Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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