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

Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays et al. Circ Genom Precis Med 2023 7 e004050 (Posted: Jul 10, 2023 8AM)

We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac neonatal intensive care unit. In a cohort of 48 infants with complex CHD, rGS diagnosed 14 genetic disorders in 13 (27%) individuals and led to changes in clinical management in 8 (62%) cases with diagnostic results. These included 2 cases in whom genetic diagnoses helped avert intensive, futile interventions before cardiac neonatal intensive care unit discharge, and 3 cases in whom eye disease was diagnosed and treated in early childhood.

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023 (Posted: Apr 09, 2023 8AM)

During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.

Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!
Julie De Backer et al. Circulation. Genomic and precision medicine 2023 3 e004104 (Posted: Mar 31, 2023 6AM)

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 1 (1) e2253191 (Posted: Jan 28, 2023 11AM)

Are damaging de novo variants in genes not previously associated with neurodevelopmental risk (dDNV-NR) associated with worse neurologic findings in individuals with congenital heart disease (CHD)? In this cross-sectional study of 221 patients with CHD, dDNV-NRs as a group were not associated with neurologic outcomes. In post hoc analyses, dDNVs and rare putative loss-of-function (pLOF) variants, especially in chromatin-modifying genes, were associated with worse neurodevelopmental and brain magnetic resonance imaging (MRI) metrics.

Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.
Spendlove Sarah J et al. HGG advances 2022 5 (3) 100112 (Posted: Nov 07, 2022 8AM)

Here we used CHD-phenotype matched genome-wide association study (GWAS) summary statistics from the UK Biobank (UKBB) as our base study and whole-genome sequencing data from the CHD cohort (n1 = 711 trios, n2 = 362 European trios) of the Gabriella Miller Kids First dataset as our target study to develop PRSs for CHD. PRSs estimated using a GWAS for heart valve problems and heart murmur explain 2.5% of the variance in case-control status of CHD.

Integrated multiomic characterization of congenital heart disease.
Hill Matthew C et al. Nature 2022 6 (Posted: Jun 23, 2022 10AM)

Congenital Heart Disease Gene: a Curated Database for Congenital Heart Disease Genes
A Yang et al, CIrc Gen Prec Medicine, May 6, 20222 (Posted: May 07, 2022 7PM)

An ensemble of neural networks provides expert-level prenatal detection of complex congenital heart disease
R Arnaout et al, Nature Medicine, May 14, 2021 (Posted: May 15, 2021 8AM)

Deep learning for detecting congenital heart disease in the fetus
SA Morris et al, Nature Medicine, May 14, 2021 (Posted: May 15, 2021 8AM)

Despite substantial advances in obstetric ultrasound imaging over the past several decades, a large proportion of CHD still goes unrecognized in the prenatal period. New advances in machine learning could facilitate and reduce disparities in the prenatal diagnosis of congenital health disease, the most common and lethal birth defect.

A New Era of Genetic Testing in Congenital Heart Disease: A Review.
Morrish Ansley M et al. Trends in cardiovascular medicine 2021 (Posted: May 11, 2021 9AM)

We highlight important challenges and considerations when providing genetics consults and testing in pediatric CHD and illustrate the role of a dedicated CHD genetics clinic. Key lessons include that a) a genetic diagnosis can have clinical utility that justifies testing early in life, b) adequate genetic counselling is crucial to ensure families are supported, understand the range of possible results, and are prepared for new or unexpected health information, and c) further integration of the clinical genetics and cardiology workflows will be required to effectively manage the burgeoning information arising from genetic testing

Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021 (Posted: Mar 29, 2021 6AM)

Many people have erroneously linked MTHFR polymorphisms with a myriad of medical conditions. In the world of reproductive medicine, it is blamed for a host of things, such as infertility, miscarriages, stillbirths, failure of in vitro fertilization (IVF), preecplampsia (a serious medical condition during pregnancy), and having a child with autism, Down syndrome, birth defects that impact the heart (congenital heart disease), and neural tube defects.

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease
SU Morton et al, JAMA Cardiology, October 21, 2020 (Posted: Oct 22, 2020 9AM)

In this case-control study, loss-of-function variants in cancer risk genes were increased approximately 1.3-fold in 4443 patients with CHD compared with 9808 control participants. This burden was highest in cancer risk genes previously associated with CHD (7.2-fold) or that regulate gene expression (1.9-fold); patients with CHD and extracardiac anomalies and/or neurodevelopmental delay had the highest rates of damaging variants in cancer risk genes.

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)

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)

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)

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

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

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

Key Findings: Estimating the impact of newborn screening for critical congenital heart defects in the United States
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

Congenital heart disease ptosis hypodontia craniostosis
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)

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

Shoulder and thorax deformity congenital heart disease
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 Public Health Genomics Branch 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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