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

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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.

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

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General Support Organizations

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General Resources

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

Maternal folic acid supplementation and dietary folate intake and congenital heart defects.
 

Author(s): Baohong Mao, Jie Qiu, Nan Zhao, Yawen Shao, Wei Dai, Xiaochun He, Hongmei Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, Weitao Qiu, Qing Liu, Yawei Zhang

Journal:

 

It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid ...

Last Updated: 31 Dec 1969

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Cost-effectiveness analysis of neonatal screening of critical congenital heart defects in China.
 

Author(s): Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori

Journal: Medicine (Baltimore). 2017 Nov;96(46):e8683.

 

Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study ...

Last Updated: 31 Dec 1969

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Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration.
 

Author(s): Fernando Cristo, José M Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Luís Pereira de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A Belo

Journal: Stem Cell Res. 2017 12;25():152-156.

 

A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription ...

Last Updated: 31 Dec 1969

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

Heart conduction system defects and sustained ventricular tachycardia complications in a patient with granulomatosis with polyangiitis. A case report and literature review.
 

Author(s): Laryssa Passos Sarmento Santos, Victor Guerreiro Bomfim, Camila Fagundes Bezerra, Natália Vieira Costa, Rafael Barreto Paes de Carvalho, Ricardo Sobral de Carvalho, Rogério da Hora Passos, Olivia Carla Bomfim Boaventura, André Luiz Nunes Gobatto

Journal: Rev Bras Ter Intensiva. ;29(3):386-390.

 

Granulomatosis with polyangiitis is a rare systemic inflammatory disorder characterized by vasculitis of the small arteries, the arterioles and the capillaries together with necrotizing granulomatous lesions. This case reports on a young female patient, previously diagnosed with granulomatosis ...

Last Updated: 31 Dec 1969

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Fetal Tricuspid Regurgitation in the First Trimester as a Screening Marker for Congenital Heart Defects: Systematic Review and Meta-Analysis.
 

Author(s): Carolina Scala, Maddalena Morlando, Alessandra Familiari, Umberto Leone Roberti Maggiore, Simone Ferrero, Francesco D'Antonio, Asma Khalil

Journal: Fetal. Diagn. Ther.. 2017 ;42(1):1-8.

 

Assessment of tricuspid flow has been reported to improve the performance of screening for aneuploidies and congenital heart defects (CHD). However, the performance of tricuspid regurgitation (TR) as a screening marker for CHD in euploid fetuses is yet to be established. The main ...

Last Updated: 31 Dec 1969

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The Complex Genetic Basis of Congenital Heart Defects.
 

Author(s): Ehiole Akhirome, Nephi A Walton, Julie M Nogee, Patrick Y Jay

Journal: Circ. J.. 2017 Apr;81(5):629-634.

 

Twenty years ago, chromosomal abnormalities were the only identifiable genetic causes of a small fraction of congenital heart defects (CHD). Today, a de novo or inherited genetic abnormality can be identified as pathogenic in one-third of cases. We refer to them here as monogenic ...

Last Updated: 31 Dec 1969

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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

Neurodevelopment in Infants With Complex Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Complex Congenital Heart Defect

 

Last Updated: 18 May 2018

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Electro-acupuncture (EA) in Children Undergoing Procedures for Congenital Heart Defects.
 

Status: Recruiting

Condition Summary: Congenital Heart Defect

 

Last Updated: 15 Nov 2017

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A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Congenital Heart Defect; Cerebrovascular Circulation

 

Last Updated: 31 May 2018

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