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

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.

A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices
MD Durbin et al, Genet in Med Open, May 2023 (Posted: May 14, 2023 9AM)

A multicenter cross-sectional study of five large children’s hospitals, including 2899 children = 14 months undergoing surgical repair for CHD in 2013-2016, followed by multivariate logistics regression analysis. Genetic testing occurred in 1607 of 2899 patients (55%). Testing rates differed highly between institutions (42% - 78%, p< 0.001). Choice of testing modality also differed across institutions (i.e., chromosomal microarray, 26% - 67%, p< 0.001). Genetic testing was abnormal in 702 of 1607 patients (44%) and no major phenotypic feature drove diagnostic yield. Only 849 patients were seen by geneticists (29%).

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)

5 Things to Know About Heart Defects
CDC, February 2022 Brand (Posted: Feb 15, 2022 3PM)

Heart defects are the most common type of birth defect, affecting nearly 1% of births – or about 40,000 births – per year in the United States. It is estimated that more than two million people in the United States are living with heart defects. Some heart defects can be found during pregnancy by looking at ultrasound pictures of the heart of the developing baby. Other heart defects aren’t detected until birth through newborn screening, or later in life, during childhood or adulthood. Screening newborns for heart defects allows them to be treated early and may prevent other health problems or early death. A CDC study found that, as of 2018, all 50 states and Washington, D.C. have newborn screening programs that test for critical congenital heart defects.

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.

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.
Miletic Aleksandra et al. European journal of pediatrics 2021 (Posted: May 11, 2021 9AM)

We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. One hundred consecutive newborns admitted with critical CHD to the ICU were included in the study. Those with normal MLPA findings were further tested by chromosomal microarray and clinical exome sequencing. Overall, pathogenic/likely pathogenic variants were determined in ten (10%) newborns by MLPA, three (3%) by chromosomal microarray, and three (3%) by clinical exome sequencing.

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.

World Birth Defects Day, March 3, 2021
CDC, March 2021 Brand (Posted: Mar 01, 2021 3PM)

March 3 is World Birth Defects Day. Join us to raise awareness of birth defects, their causes, and their impact around the world! Our theme is “Many birth defects, one voice.” Every year, about 3-6% of infants worldwide are born with a serious birth defect. This means that life-altering conditions like spina bifida and congenital heart defects affect millions of babies regardless of where they are born, their socioeconomic status, or their race or ethnicity.

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.

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.
Singer Emma S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep (Posted: Sep 27, 2020 2PM)

Copy-number variant (CNV) analysis is increasingly performed in genetic diagnostics. We leveraged recent gene curation efforts and technical standards for interpretation and reporting of CNVs to characterize clinically relevant CNVs in patients with inherited heart disease and sudden cardiac death.

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)

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Nisselrooij Amber E L van et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr (Posted: Apr 29, 2020 0PM)

For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger
A Joseph, Stat News, March 23, 2020 (Posted: Mar 23, 2020 8AM)

An infection from the coronavirus can be a formidable threat to anyone. But it is especially pernicious for people whose health is vulnerable, even in the best of conditions. Examples include those with primary immunodeficiency disorders, cystic fibrosis, BRCA mutations, and congenital heart defects.

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.

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
MS Reuter et al, Genetics in Medicine, February 10, 2020 (Posted: Feb 10, 2020 9AM)

We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation. In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes.

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)

Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life
CDC, November 2019 Brand (Posted: Nov 13, 2019 8AM)

Each year, more than 13,000 newborn babies are identified with conditions such as cystic fibrosis, sickle cell disease, congenital heart defects, and hearing loss through a public health program called newborn screening. Without specialized care and treatment, these babies would face long-term disability, or even death.

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.

A familyÂ’s medical mystery sheds light on the surprising ways disease-causing genes can be inherited
A Joseph, Stat News, July 8, 2019 (Posted: Jul 08, 2019 8AM)

As scientists searched for the root of the issue, members of the medical team examined the rest of the family. They found evidence of the same condition in Anna, then 4 years old. But her heart seemed to be compensating for the problem. Despite abnormalities in her heart, she had never shown any symptoms.

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)

Application of next-generation sequencing for the diagnosis of fetuses with congenital heart defects.
Qiao Fengchang et al. Current opinion in obstetrics & gynecology 2019 Jan (Posted: Feb 04, 2019 1PM)

Living with a Heart Defect
CDC, 2019 Brand (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)

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.
Thomford Nicholas Ekow et al. Omics : a journal of integrative biology 2018 May 22(5) 301-321 (Posted: May 17, 2018 1PM)

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)

Genetic Origins of Tetralogy of Fallot.
Morgenthau Ari et al. Cardiology in review (2) 86-92 (Posted: Feb 09, 2018 1PM)

Facts about Congenital Heart Defects
The causes of most cases are unknown but some are caused by genetic diseases and gene-environment interactions Brand (Posted: Feb 09, 2018 9AM)

Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects.
Turan Sifa et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Dec (Posted: Jan 10, 2018 9AM)

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.
Yu Di et al. Italian journal of pediatrics 2017 Dec (1) 108 (Posted: Jan 08, 2018 0PM)

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)

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.
Helm Benjamin M et al. Journal of genetic counseling 2017 Oct (Posted: Nov 02, 2017 9AM)

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns
AH Li et al, Genome Medicine, Oct 2017 (Posted: Nov 02, 2017 9AM)

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)

Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.
De Groote Katya et al. Prenatal diagnosis 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)

The Complex Genetic Basis of Congenital Heart Defects.
Akhirome Ehiole et al. Circulation journal : official journal of the Japanese Circulation Society 2017 Apr (5) 629-634 (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 ClinicianÂ’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)

Genetics of inherited cardiocutaneous syndromes: a review.
Bardawil Tara et al. Open heart 2016 (2) e000442 (Posted: Feb 07, 2017 9AM)

What Is New in Genetics of Congenital Heart Defects?
Digilio Maria Cristina et al. Frontiers in pediatrics 2016 120 (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)

Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care.
Helm Benjamin M et al. Frontiers in cardiovascular medicine 2016 19 (Posted: Aug 01, 2016 3PM)

Cytogenomic Aberrations in Congenital Cardiovascular Malformations.
Azamian Mahshid et al. Molecular syndromology 2016 May (2) 51-61 (Posted: Aug 01, 2016 3PM)

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Siffrim et al, Nature Genetics, August 1, 2016 (Posted: Aug 01, 2016 3PM)

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Chung Ill-Min et al. Genes 2016 (2) (Posted: Feb 08, 2016 8PM)

People with congenital heart defects (CHD) are now living longer, healthier lives.
Brand (Posted: Feb 08, 2016 8PM)

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)

Heart Murmur
From NHLBI health topic site Brand (Posted: Jan 11, 2014 11AM)

A heart murmur is an unusual sound heard between heartbeats. Overview Murmurs sometimes sound like a whooshing or swishing noise. Murmurs may be harmless, also called innocent, or abnormal. Harmless murmurs may not cause symptoms and can happen when blood flows more rapidly than normal through the heart such as during exercise, pregnancy, or rapid growth in children. Abnormal murmurs may be a sign of a more serious heart condition, such as a congenital heart defect that is present since birth or heart valve disease. Depending on the heart problem causing the abnormal murmurs, the murmurs may be associated with other symptoms such as shortness of breath, dizziness or fainting, bluish skin, or a chronic cough. If a heart murmur is detected, your doctor will listen to the loudness, location and timing of your murmur to find out whether it is harmless or a sign of a more serious condition. If your doctor thinks you may have a more serious condition, your doctor may refer you to a cardiologist, or a doctor who specializes in the heart. The cardiologist may have you do other tests such as an electrocardiogram (EKG) or echocardiogram to look for heart rhythm or structural problems and see how well your heart is working. A heart murmur itself does not require treatment. If it is caused by a more serious heart condition, your doctor may recommend treatment for that heart condition. Treatment may include medicines, cardiac catheterization, or surgery. The outlook and treatment for abnormal heart murmurs depend on the type and severity of the heart condition that is causing the murmur.

Heart Surgery
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Heart Surgery? Heart surgery is done to correct problems with the heart. Many heart surgeries are done each year in the United States for various heart problems. Heart surgery is used for both children and adults. This article discusses heart surgery for adults. For more information about heart surgery for children, go to the Health Topics articles about congenital heart defects, holes in the heart, and tetralogy of Fallot. Overview The most common type of heart surgery for adults is coronary artery bypass grafting (CABG). During CABG, a healthy artery or vein from the body is connected, or grafted, to a blocked coronary (heart) artery. The grafted artery or vein bypasses (that is, goes around) the blocked portion of the coronary artery. This creates a new path for oxygen-rich blood to flow to the heart muscle. CABG can relieve chest pain and may lower your risk of having a heart attack. Doctors also use heart surgery to: ?Repair or replace heart valves, which control blood flow through the heart ?Repair abnormal or damaged structures in the heart ?Implant medical devices that help control the heartbeat or support heart function and blood flow ?Replace a damaged heart with a healthy heart from a donor Traditional heart surgery, often called open-heart surgery, is done by opening the chest wall to operate on the heart. The surgeon cuts through the patient's breastbone (or just the upper part of it) to open the chest. Once the heart is exposed, the patient is connected to a heart-lung bypass machine. The machine takes over the heart's pumping action and moves blood away from the heart. This allows the surgeon to operate on a heart that isn't beating and that doesn't have blood flowing through it. Another type of heart surgery is called off-pump, or beating heart, surgery. It's like traditional open-heart surgery because the chest bone is opened to access the heart. However, the heart isn't stopped, and a heart-lung bypass machine isn't used. Off-pump heart surgery is limited to CABG. Surgeons can now make small incisions (cuts) between the ribs to do some types of heart surgery. The breastbone is not opened to reach the heart. This is called minimally invasive heart surgery. This type of heart surgery may or may not use a heart-lung bypass machine. Newer methods of heart surgery (such as off-pump and minimally invasive) may reduce risks and speed up recovery time. Studies are under way to compare these types of heart surgery with traditional open-heart surgery. The results of these studies will help doctors decide the best surgery to use for each patient. Outlook The results of heart surgery in adults often are excellent. Heart surgery can reduce symptoms, improve quality of life, and improve the chances of survival. To understand heart surgery, it's helpful to know how a normal heart works. Go to the Health Topics article on How the Heart Works for more information.

Heart Valve Disease
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral, and aortic valves. These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. Healthy Heart Cross-Section Figure 1 shows the location of the heart in the body. Figure B shows a cross-section of a healthy heart and its inside structures. The blue arrow shows the direction in which oxygen-poor blood flows through the heart to the lungs. The red arrow shows the direction in which oxygen-rich blood flows from the lungs into the heart and then out to the body. Figure 1 shows the location of the heart in the body. Figure B shows a cross-section of a healthy heart and its inside structures. The blue arrow shows the direction in which oxygen-poor blood flows through the heart to the lungs. The red arrow shows the direction in which oxygen-rich blood flows from the lungs into the heart and then out to the body. Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood. Overview How the Heart Valves Work At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). The mitral and tricuspid valves are located at the bottom of these chambers. As the blood builds up in the atria, these valves open to allow blood to flow into the ventricles (the heart's two lower chambers). After a brief delay, as the ventricles begin to contract, the mitral and tricuspid valves shut tightly. This prevents blood from flowing back into the atria. As the ventricles contract, they pump blood through the pulmonary and aortic valves. The pulmonary valve opens to allow blood to flow from the right ventricle into the pulmonary artery. This artery carries blood to the lungs to get oxygen. At the same time, the aortic valve opens to allow blood to flow from the left ventricle into the aorta. The aorta carries oxygen-rich blood to the body. As the ventricles relax, the pulmonary and aortic valves shut tightly. This prevents blood from flowing back into the ventricles. For more information about how the heart pumps blood and detailed animations, go to the Health Topics How the Heart Works article. Heart Valve Problems Heart valves can have three basic kinds of problems: regurgitation, stenosis, and atresia. Regurgitation, or backflow, occurs if a valve doesn't close tightly. Blood leaks back into the chambers rather than flowing forward through the heart or into an artery. In the United States, backflow most often is due to prolapse. "Prolapse" is when the flaps of the valve flop or bulge back into an upper heart chamber during a heartbeat. Prolapse mainly affects the mitral valve. Stenosis occurs if the flaps of a valve thicken, stiffen, or fuse together. This prevents the heart valve from fully opening. As a result, not enough blood flows through the valve. Some valves can have both stenosis and backflow problems. Atresia occurs if a heart valve lacks an opening for blood to pass through. Some people are born with heart valve disease, while others acquire it later in life. Heart valve disease that develops before birth is called congenital heart valve disease. Congenital heart valve disease can occur alone or with other congenital heart defects. Congenital heart valve disease often involves pulmonary or aortic valves that don't form properly. These valves may not have enough tissue flaps, they may be the wrong size or shape, or they may lack an opening through which blood can flow properly. Acquired heart valve disease usually involves aortic or mitral valves. Although the valves are normal at first, problems develop over time. Both congenital and acquired heart valve disease can cause stenosis or backflow. Outlook Many people have heart valve defects or disease but don't have symptoms. For some people, the condition mostly stays the same throughout their lives and doesn't cause any problems. For other people, heart valve disease slowly worsens until symptoms develop. If not treated, advanced heart valve disease can cause heart failure, stroke, blood clots, or death due to sudden cardiac arrest (SCA). Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can relieve many of its symptoms and complications. These treatments also can lower your risk of developing a life-threatening condition, such as stroke or SCA. Eventually, you may need to have your faulty heart valve repaired or replaced. Some types of congenital heart valve disease are so severe that the valve is repaired or replaced during infancy, childhood, or even before birth. Other types may not cause problems until middle-age or older, if at all. Other Names ?Aortic regurgitation ?Aortic stenosis ?Aortic sclerosis ?Aortic valve disease ?Bicuspid aortic valve ?Congenital heart defect ?Congenital valve disease ?Mitral regurgitation ?Mitral stenosis ?Mitral valve disease ?Mitral valve prolapse ?Pulmonic regurgitation ?Pulmonic stenosis ?Pulmonic valve disease ?Tricuspid regurgitation ?Tricuspid stenosis ?Tricuspid valve disease

Patent Ductus Arteriosus
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Patent ductus arteriosus (PDA) is a heart problem that occurs soon after birth in some babies. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. Before birth, the two major arteries?the aorta and the pulmonary (PULL-mun-ary) artery?are connected by a blood vessel called the ductus arteriosus. This vessel is an essential part of fetal blood circulation. Within minutes or up to a few days after birth, the vessel is supposed to close as part of the normal changes occurring in the baby's circulation. In some babies, however, the ductus arteriosus remains open (patent). This opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can put strain on the heart and increase blood pressure in the lung arteries. Normal Heart and Heart With Patent Ductus Arteriosus Figure A shows the interior of a normal heart and normal blood flow. Figure B shows a heart with patent ductus arteriosus. The defect connects the aorta with the pulmonary artery. This allows oxygen-rich blood from the aorta to mix with oxygen-poor blood in the pulmonary artery. Figure A shows the interior of a normal heart and normal blood flow. Figure B shows a heart with patent ductus arteriosus. The defect connects the aorta with the pulmonary artery. This allows oxygen-rich blood from the aorta to mix with oxygen-poor blood in the pulmonary artery. Go to the "How the Heart Works" section of this article for more details about how a normal heart works compared with a heart that has PDA. Overview PDA is a type of congenital (kon-JEN-ih-tal) heart defect. A congenital heart defect is any type of heart problem that's present at birth. If your baby has a PDA but an otherwise normal heart, the PDA may shrink and go away. However, some children need treatment to close their PDAs. Some children who have PDAs are given medicine to keep the ductus arteriosus open. For example, this may be done if a child is born with another heart defect that decreases blood flow to the lungs or the rest of the body. Keeping the PDA open helps maintain blood flow and oxygen levels until doctors can do surgery to correct the other heart defect. Outlook PDA is a fairly common congenital heart defect in the United States. Although the condition can affect full-term infants, it's more common in premature infants. On average, PDA occurs in about 8 out of every 1,000 premature babies, compared with 2 out of every 1,000 full-term babies. Premature babies also are more vulnerable to the effects of PDA. PDA is twice as common in girls as it is in boys. Doctors treat the condition with medicines, catheter-based procedures, and surgery. Most children who have PDAs live healthy, normal lives after treatment.

Tetralogy of Fallot
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

Also known as TOF What Is Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart's structure that's present at birth. Congenital heart defects change the normal flow of blood through the heart. Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5 out of every 10,000 babies. The defect affects boys and girls equally. To understand tetralogy of Fallot, it helps to know how a healthy heart works. The Health Topics How the Heart Works article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart's electrical system works. Overview Tetralogy of Fallot involves four heart defects: ?A large ventricular septal defect (VSD) ?Pulmonary (PULL-mun-ary) stenosis ?Right ventricular hypertrophy (hi-PER-tro-fe) ?An overriding aorta Ventricular Septal Defect The heart has an inner wall that separates the two chambers on its left side from the two chambers on its right side. This wall is called a septum. The septum prevents blood from mixing between the two sides of the heart. A VSD is a hole in the septum between the heart's two lower chambers, the ventricles. The hole allows oxygen-rich blood from the left ventricle to mix with oxygen-poor blood from the right ventricle. Pulmonary Stenosis This defect involves narrowing of the pulmonary valve and the passage from the right ventricle to the pulmonary artery. Normally, oxygen-poor blood from the right ventricle flows through the pulmonary valve and into the pulmonary artery. From there, the blood travels to the lungs to pick up oxygen. In pulmonary stenosis, the pulmonary valve cannot fully open. Thus, the heart has to work harder to pump blood through the valve. As a result, not enough blood reaches the lungs. Right Ventricular Hypertrophy With this defect, the muscle of the right ventricle is thicker than usual. This occurs because the heart has to work harder than normal to move blood through the narrowed pulmonary valve. Overriding Aorta This defect occurs in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. In a healthy heart, the aorta is attached to the left ventricle. This allows only oxygen-rich blood to flow to the body. In tetralogy of Fallot, the aorta is located between the left and right ventricles, directly over the VSD. As a result, oxygen-poor blood from the right ventricle flows directly into the aorta instead of into the pulmonary artery. Outlook With tetralogy of Fallot, not enough blood is able to reach the lungs to get oxygen, and oxygen-poor blood flows to the body. Cross-Section of a Normal Heart and a Heart With Tetralogy of Fallot Figure A shows the structure and blood flow inside a normal heart. Figure B shows a heart with the four defects of tetralogy of Fallot. Figure A shows the structure and blood flow inside a normal heart. Figure B shows a heart with the four defects of tetralogy of Fallot. Babies and children who have tetralogy of Fallot have episodes of cyanosis (si-ah-NO-sis). Cyanosis is a bluish tint to the skin, lips, and fingernails. It occurs because the oxygen level in the blood leaving the heart is below normal. Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The timing of the surgery will depend on how narrow the pulmonary artery is. Over the past few decades, the diagnosis and treatment of tetralogy of Fallot have greatly improved. Most children who have this heart defect survive to adulthood. However, they'll need lifelong medical care from specialists to help them stay as healthy as possible. Other Names ?Fallot's tetralogy

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

Endocarditis
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Endocarditis (EN-do-kar-DI-tis) is an infection of the inner lining of the heart chambers and valves. This lining is called the endocardium (en-do-KAR-de-um). The condition also is called infective endocarditis (IE). The term "endocarditis" also is used to describe an inflammation of the endocardium due to other conditions. This article only discusses endocarditis related to infection. IE occurs if bacteria, fungi, or other germs invade your bloodstream and attach to abnormal areas of your heart. The infection can damage your heart and cause serious and sometimes fatal complications. IE can develop quickly or slowly; it depends on what type of germ is causing it and whether you have an underlying heart problem. When IE develops quickly, it's called acute infective endocarditis. When it develops slowly, it's called subacute infective endocarditis. Overview IE mainly affects people who have: ?Damaged or artificial (man-made) heart valves ?Congenital heart defects (defects present at birth) ?Implanted medical devices in the heart or blood vessels People who have normal heart valves also can have IE. However, the condition is much more common in people who have abnormal hearts. Certain factors make it easier for bacteria to enter your bloodstream. These factors put you at higher risk for IE. For example, poor dental hygiene and unhealthy teeth and gums increase your risk for the infection. Other risk factors include using intravenous (IV) drugs, having a catheter (tube) or another medical device in your body for long periods, and having a history of IE. Common symptoms of IE are fever and other flu-like symptoms. Because the infection can affect people in different ways, the signs and symptoms vary. IE also can cause problems in many other parts of the body besides the heart. If you're at high risk for IE, seek medical care if you have signs or symptoms of the infection, especially a fever that persists or unexplained fatigue (tiredness). Outlook IE is treated with antibiotics for several weeks. You also may need heart surgery to repair or replace heart valves or remove infected heart tissue. Most people who are treated with the proper antibiotics recover. But if the infection isn't treated, or if it persists despite treatment (for example, if the bacteria are resistant to antibiotics), it's usually fatal. If you have signs or symptoms of IE, see your doctor as soon as you can, especially if you have abnormal heart valves.

Heart Block
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. ("Rate" refers to the number of times your heart beats per minute. "Rhythm" refers to the pattern of regular or irregular pulses produced as the heart beats.) With each heartbeat, an electrical signal spreads across the heart from the upper to the lower chambers. As it travels, the signal causes the heart to contract and pump blood. Heart block occurs if the electrical signal is slowed or disrupted as it moves through the heart. Overview Heart block is a type of arrhythmia (ah-RITH-me-ah). An arrhythmia is any problem with the rate or rhythm of the heartbeat. Some people are born with heart block, while others develop it during their lifetimes. If you're born with the condition, it's called congenital (kon-JEN-ih-tal) heart block. If the condition develops after birth, it's called acquired heart block. Doctors might detect congenital heart block before or after a baby is born. Certain diseases that may occur during pregnancy can cause heart block in a baby. Some congenital heart defects also can cause heart block. Congenital heart defects are problems with the heart's structure that are present at birth. Often, doctors don't know what causes these defects. Acquired heart block is more common than congenital heart block. Damage to the heart muscle or its electrical system causes acquired heart block. Diseases, surgery, or medicines can cause this damage. The three types of heart block are first degree, second degree, and third degree. First degree is the least severe, and third degree is the most severe. This is true for both congenital and acquired heart block. Doctors use a test called an EKG (electrocardiogram) to help diagnose heart block. This test detects and records the heart's electrical activity. It maps the data on a graph for the doctor to review. Outlook The symptoms and severity of heart block depend on which type you have. First-degree heart block may not cause any severe symptoms. Second-degree heart block may result in the heart skipping a beat or beats. This type of heart block also can make you feel dizzy or faint. Third-degree heart block limits the heart's ability to pump blood to the rest of the body. This type of heart block may cause fatigue (tiredness), dizziness, and fainting. Third-degree heart block requires prompt treatment because it can be fatal. A medical device called a pacemaker is used to treat third-degree heart block and some cases of second-degree heart block. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers typically are not used to treat first-degree heart block. All types of heart block may increase your risk for other arrhythmias, such as atrial fibrillation (A-tre-al fih-brih-LA-shun). Talk with your doctor to learn more about the signs and symptoms of arrhythmias.

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