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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypoplastic right heart syndrome


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Overview

Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis.[1] It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.
Last updated: 6/18/2013

References

  1. Dib, C. et al. Hypoplastic Right Heart Syndrome Presenting as Multiple Miscarriages. Texas Heart Institute Journal. 2012; 39(2):249-254. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3384066/. Accessed 6/12/2013.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypoplastic right heart syndrome. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.