Ostium secundum atrial septal defect
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
ASD ostium secundum type; Ostium secundum ASD; osASD
Congenital and Genetic Diseases; Heart Diseases
An ostium secundum atrial septal defect is a type of
Normally, the right side of the heart pumps oxygen-poor blood to the lungs, while the left side pumps oxygen-rich blood to the body. An ASD allows blood from both sides to mix, causing the heart to work less efficiently.
A small hole may not cause any symptoms or problems. A larger hole can eventually cause symptoms such as shortness of breath, respiratory infections, fainting, irregular heart rhythms or fatigue after mild activity. Larger ASDs can also ultimately lead to pulmonary artery hypertension, right ventricular hypertrophy (enlargement); SVT, or heart failure.
Most cases of ASD are not
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Decreased ability to exercise
Inability to exercise
[ more ]
[ more ]
Missed heart beat
Skipped heart beat
[ more ]
|Right atrial enlargement||0030718|
|Systolic heart murmur||0031664|
|5%-29% of people have these symptoms|
|Abnormal left ventricular function||0005162|
|Abnormal mitral valve morphology||0001633|
Quivering upper heart chambers resulting in irregular heartbeat
|Bundle branch block||0011710|
|Congestive heart failure||
[ more ]
|First degree atrioventricular block||0011705|
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
Increased blood pressure in blood vessels of lungs
|Right ventricular dilatation||0005133|
|ST segment depression||0012250|
|1%-4% of people have these symptoms|
Blue discoloration of the skin
|Increased pulmonary vascular resistance||0005317|
Obstructive lung disease
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|Right ventricular failure||0001708|
|Transient ischemic attack||
|Percent of people who have these symptoms is not available through HPO|
|Aortic valve stenosis||
Narrowing of aortic valve
|Atrial septal dilatation||0011995|
|Bicuspid aortic valve||
Aortic valve has two leaflets rather than three
|Persistent left superior vena cava||0005301|
|Second degree atrioventricular block||0011706|
|Secundum atrial septal defect||0001684|
|Subvalvular aortic stenosis||
Narrowing of blood vessel below aortic heart valve
|Tetralogy of Fallot with pulmonary atresia||0012516|
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- Mayo Clinic has an information page on Ostium secundum atrial septal defect.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Ostium secundum atrial septal defect.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Ostium secundum atrial septal defect. Click on the link to view a sample search on this topic.
- Jeanne Marie Baffa. Atrial Septal Defect (ASD). Merck Manual. January, 2014; https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrial-septal-defect-asd.
- Atrial Septal Defect. Cleveland Clinic. 2016; https://my.clevelandclinic.org/services/heart/disorders/congenital-heart/atrial-septal-defect-asd.
- Atrial Septal Defect (ASD). American Heart Association. March 23, 2013; https://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/Atrial-Septal-Defect-ASD_UCM_307021_Article.jsp#.V6NqR_krJD8.
- Marla J. F. O'Neill. ATRIAL SEPTAL DEFECT 1; ASD1. OMIM. February 9, 2012; https://www.omim.org/entry/108800.
- Heidi M Connolly. Indications for closure and medical management of atrial septal defects in adults. UpToDate. Waltham, MA: UpToDate; July, 2016;