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

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
 

Author(s): Charles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C Searby, Lisa M Baye, Val C Sheffield, Diane C Slusarski

Journal:

 

Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare ...

Last Updated: 28 Jul 2017

Go To URL
Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.
 

Author(s): Fernando Cristo, José M Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A Belo

Journal:

 

Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs ...

Last Updated: 25 Jul 2017

Go To URL
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

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 45 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
Assessment of right ventricular systolic function by echocardiography after surgical repair of congenital heart defects.
 

Author(s): Diala Khraiche, Nidhal Ben Moussa

Journal: Arch Cardiovasc Dis. 2016 Feb;109(2):113-9.

 

Postoperative impairment of right ventricular (RV) systolic function can appear after surgical repair of complex congenital heart defects, such as tetralogy of Fallot; it is caused by chronic volume and/or pressure overload due to pulmonary regurgitation and/or stenosis. RV dysfunction ...

Last Updated: 26 Feb 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