Heart Defects

Common Name(s)

Heart Defects

Congenital heart defects are problems with the heart’s structure that are present at birth. These problems may affect the overall shape of the heart, the heart’s valves, and the arteries and veins that carry blood to the heart or the body. Congenital heart defects affect 8 out of every 1,000 newborns, and more than 35,000 babies in the United States are born with a heart defect. Although the exact causes are unknown, heart defects may be linked to heredity factors, other genetic disorders (i.e. Down syndrome), and smoking during pregnancy. Severity ranges from defects with no symptoms to life-threatening defects. Many heart defects are easily fixed, although the more serious ones require attention throughout a person’s lifetime. Diagnosis may include a physical examination, X-rays, or various heart function tests. Defects can be treated with medication, surgery or through minimally invasive catheter procedures. In such procedures, a needle is used to insert a catheter into a vein or artery to repair the defect.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Heart Defects" for support, advocacy or research.

It's My Heart, Inc.

It's My Heart's mission is to provide support, spread awareness, educate and advocate for those affected by congenital heart defects by creating alliances with fellow families, hospitals, support groups, and the community.

Last Updated: 10 Jan 2013

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 30 Oct 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Heart Defects" for support, advocacy or research.

It's My Heart, Inc.

It's My Heart's mission is to provide support, spread awareness, educate and advocate for those affected by congenital heart defects by creating alliances with fellow families, hospitals, support groups, and the community.

http://www.itsmyheart.org

Last Updated: 10 Jan 2013

View Details
Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 30 Oct 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Heart Defects" returned 279 free, full-text research articles on human participants. First 3 results:

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
 

Author(s): Monica Bonetti, Jeroen Paardekooper Overman, Federico Tessadori, Emily Noël, Jeroen Bakkers, Jeroen den Hertog

Journal: Development. 2014 May;141(9):1961-70.

 

Germline mutations in PTPN11, encoding Shp2, cause Noonan syndrome (NS) and LEOPARD syndrome (LS), two developmental disorders that are characterized by multiple overlapping symptoms. Interestingly, Shp2 catalytic activity is enhanced by NS mutations and reduced by LS mutations. Defective ...

Last Updated: 23 Apr 2014

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Rare variants in NR2F2 cause congenital heart defects in humans.
 

Author(s): Saeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, Sebastian S Gerety, Marc-Phillip Hitz, Sarah Lindsay, Lisa C A D'Alessandro, G Jawahar Swaminathan, Jamie Bentham, Anne-Karin Arndt, Jacoba Low, Jeroen Breckpot, Marc Gewillig, Bernard Thienpont, Hashim Abdul-Khaliq, Christine Harnack, Kirstin Hoff, Hans-Heiner Kramer, Stephan Schubert, Reiner Siebert, Okan Toka, Catherine Cosgrove, Hugh Watkins, Anneke M Lucassen, Ita M O'Kelly, Anthony P Salmon, Frances A Bu'lock, Javier Granados-Riveron, Kerry Setchfield, Chris Thornborough, J David Brook, Barbara Mulder, Sabine Klaassen, Shoumo Bhattacharya, Koen Devriendt, David F Fitzpatrick, , David I Wilson, Seema Mital, Matthew E Hurles

Journal: Am. J. Hum. Genet.. 2014 Apr;94(4):574-85.

 

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome ...

Last Updated: 7 Apr 2014

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[Critical heart defects in newborns overlooked].
 

Author(s): Kjersti Jystad Postmyr, Eva Tegnander, Alf Meberg

Journal: Tidsskr. Nor. Laegeforen.. 2014 Jan;134(2):194-6.

 

Last Updated: 30 Jan 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Heart Defects" returned 34 free, full-text review articles on human participants. First 3 results:

Folate deficiency and folic acid supplementation: the prevention of neural-tube defects and congenital heart defects.
 

Author(s): Andrew E Czeizel, Istvan Dudás, Attila Vereczkey, Ferenc Bánhidy

Journal:

 

Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD) as vitamin deficiencies play a role in their origin. ...

Last Updated: 28 Nov 2013

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Congenital heart defects and extracardiac malformations.
 

Author(s): Rosana Cardoso M Rosa, Rafael Fabiano M Rosa, Paulo Ricardo G Zen, Giorgio Adriano Paskulin

Journal: Rev Paul Pediatr. 2013 Jun;31(2):243-51.

 

To review the association between congenital heart defects and extracardiac malformations.

Last Updated: 5 Jul 2013

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Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta-analysis.
 

Author(s): A Sotiriadis, S Papatheodorou, M Eleftheriades, G Makrydimas

Journal: Ultrasound Obstet Gynecol. 2013 Oct;42(4):383-9.

 

To pool published data regarding the sensitivity and specificity of nuchal translucency (NT) in the diagnosis of major congenital heart defects (CHDs) in fetuses with normal karyotype.

Last Updated: 30 Sep 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Basis of Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Congenital Heart Defects

 

Last Updated: 5 Nov 2010

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Pediatric Exercise With Congenital Heart Defects (Kinderturnen Mit Angeborenem Herzfehler)
 

Status: Recruiting

Condition Summary: Heart Defects, Congenital

 

Last Updated: 26 Aug 2008

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Fluid Balance During Closure of Atrial Septal Defect
 

Status: Recruiting

Condition Summary: Heart Defects,Congenital; Heart Septal Defects, Atrial

 

Last Updated: 30 Jun 2014

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