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.

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: 4 May 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 4 May 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

 
 
Top

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 416 free, full-text research articles on human participants. First 3 results:

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
 

Author(s): Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne-Marie van der Kevie-Kersemaekers, Merel van Maarle

Journal: Am. J. Med. Genet. A. 2017 May;173(5):1383-1389.

 

Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, ...

Last Updated: 3 Apr 2017

Go To URL
Utilisation of three-dimensional printed heart models for operative planning of complex congenital heart defects.
 

Author(s): Peter Olejník, Matej Nosal, Tomas Havran, Adriana Furdova, Maros Cizmar, Michal Slabej, Andrej Thurzo, Pavol Vitovic, Martin Klvac, Tibor Acel, Jozef Masura

Journal: Kardiol Pol. 2017 ;75(5):495-501.

 

To evaluate the accuracy of the three-dimensional (3D) printing of cardiovascular structures. To explore whether utilisation of 3D printed heart replicas can improve surgical and catheter interventional planning in patients with complex congenital heart defects.

Last Updated: 10 Mar 2017

Go To URL
Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study.
 

Author(s): Wendy N Nembhard, Xinyu Tang, Zhuopei Hu, Stewart MacLeod, Zachary Stowe, Daniel Webber,

Journal:

 

Objective To evaluate whether the association between maternal periconceptional use of selective serotonin reuptake inhibitors (SSRIs) and increased risk of congenital heart defects in offspring is modified by maternal or infant genetic variants in folate, homocysteine, or transsulfuration ...

Last Updated: 7 Mar 2017

Go To URL

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 46 free, full-text review articles on human participants. First 3 results:

Neighborhood Deprivation and Risk of Congenital Heart Defects, Neural Tube Defects and Orofacial Clefts: A Systematic Review and Meta-Analysis.
 

Author(s): Séverine Deguen, Wahida Kihal, Maxime Jeanjean, Cindy Padilla, Denis Zmirou-Navier

Journal:

 

We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in which pregnant women live and the risk of Congenital Heart Defects (CHDs), Neural Tube Defects (NTDs) and OroFacial Clefts (OFCs).

Last Updated: 26 Oct 2016

Go To URL
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy.
 

Author(s): Anna R Duncan, Mustafa K Khokha

Journal: Semin. Cell Dev. Biol.. 2016 Mar;51():73-9.

 

Congenital heart disease is the leading cause of birth defects, affecting 9 out of 1000 newborns each year. A particularly severe form of congenital heart disease is heterotaxy, a disorder of left-right development. Despite aggressive surgical management, patients with heterotaxy ...

Last Updated: 18 Mar 2016

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurodevelopment in Infants With Complex Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Complex Congenital Heart Defect

 

Last Updated: 3 Apr 2017

Go to URL
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Heterotaxy Syndrome; Congenital Heart Defects

 

Last Updated: 7 Mar 2017

Go to URL
Exclusive Human Milk Feeding in Infants With Single Ventricle Physiology
 

Status: Recruiting

Condition Summary: Congenital Heart Defect

 

Last Updated: 16 May 2017

Go to URL