Hypoplastic Right Heart Syndrome
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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. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.
About Hypoplastic right heart syndrome
Many rare diseases have limited information. Currently GARD is able to provide the following information for Hypoplastic right heart syndrome:
Population Estimate:In the US, there are less than 50,000 with this disease.
Symptoms:May start to appear as a Newborn.
Experts:GARD is not currently aware of a specialist directory for this condition.
Organizations:GARD is not aware of organizations specific to this condition.
Birth Defect
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Before Birth
Newborn Selected
Birth-4 weeks
Symptoms may start to appear as a Newborn.
This information comes from Orphanet
This information is currently in development.
This section is currently in development.
How can a patient organization be helpful?
Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). Because these organizations include the life experiences of many different people who have a specific disease, they may best understand the resources needed by those in their community. Although missions of organizations may differ, services may include, but are not limited to:
Ways to connect to others and share personal stories
Easy-to-read information
Latest treatment and research information
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides the names of patient organizations for informational purposes only and not as an endorsement of their services. Please contact the organization directly if you have questions about the information or resources they provide.
What do disease-specific organizations do?
Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. These organizations usually have more disease-specific information and services, including helping new members find others who have the same disease.
What do organizations that focus on a medical condition do?
Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. These organizations usually have information and services focused more on the medical condition(s), but may also have information about associated diseases.
What do umbrella organizations do?
Rare disease umbrella organizations focus on improving the lives of all those impacted by rare diseases through education and advocacy efforts. Umbrella organizations provide a range of services for patients, families, and disease-specific organizations.
Patient Organizations
EveryLife Foundation for Rare Diseases
https://everylifefoundation.org/
Global Genes
http://globalgenes.org/
Genetic Alliance
http://www.geneticalliance.org/
National Organization for Rare Disorders
https://rarediseases.org/
Why is Research Important for Rare Diseases?
Research increases what we know about rare diseases so that people can get a diagnosis more quickly and can know what to expect. Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. It may even help improve diagnosis and treatment of more common diseases.
How do you find the right clinical study?
Current clinical studies can be found by using ClinicalTrials.gov (see below). Doctors, other trusted medical professionals, and patient organizations may also be aware of studies.
To determine whether a study may be appropriate:
Discuss the clinical study with a trusted medical provider before enrolling
Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
Ask questions. Remember, it is okay to decide not to participate in research
Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.
Next: Getting a Diagnosis
View Sources & References
Data from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease.
Data from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing.
Reference: Data from the Newborn Screening Coding and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange . J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8.
Content References:
Last Updated: Nov. 8, 2021