Rare Ophthalmology News

Disease Profile

Ostium secundum atrial septal defect

Prevalence
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.

Unknown

Age of onset

-

ICD-10

Q21.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

ASD ostium secundum type; Ostium secundum ASD; osASD

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

An ostium secundum atrial septal defect is a type of congenital heart defect called an atrial septal defect (ASD). An ASD is a hole in the wall (septum) between the two upper chambers of the heart (the atria). ASDs can be classified by location. An ostium secundum ASD is a hole in the center of the atrial septum.[1]

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.[2]

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.[2][3] Larger ASDs can also ultimately lead to pulmonary artery hypertension, right ventricular hypertrophy (enlargement); SVT, or heart failure.[1]

Most cases of ASD are not inherited and occur by chance. Some cases appear to have autosomal dominant inheritance.[4]

Treatment may not be needed for small ASDs, which often close on their own.[1] Larger ASDs are typically closed during childhood with open heart surgery or by cardiac catheterization.[3]

Symptoms

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
Learn More:
HPO ID
80%-99% of people have these symptoms
Left-to-right shunt
0012382
30%-79% of people have these symptoms
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Exertional dyspnea
0002875
Fatigue
Tired
Tiredness

[ more ]

0012378
Palpitations
Missed heart beat
Skipped heart beat

[ more ]

0001962
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
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Atrial flutter
0004749
Breathing dysregulation
0005957
Bundle branch block
0011710
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
First degree atrioventricular block
0011705
Mitral regurgitation
0001653
Orthopnea
0012764
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

0010741
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Right ventricular dilatation
0005133
ST segment depression
0012250
Supraventricular tachycardia
0004755
Tricuspid regurgitation
0005180
1%-4% of people have these symptoms
Cyanosis
Blue discoloration of the skin
0000961
Increased pulmonary vascular resistance
0005317
Pneumonia
0002090
Pulmonary obstruction
Obstructive lung disease
0006536
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections

[ more ]

0002718
Right ventricular failure
0001708
Syncope
Fainting spell
0001279
Transient ischemic attack
Mini stroke
0002326
Percent of people who have these symptoms is not available through HPO
Aortic valve stenosis
Narrowing of aortic valve
0001650
Atrial septal dilatation
0011995
Autosomal dominant inheritance
0000006
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
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
0001682
Tetralogy of Fallot with pulmonary atresia
0012516
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Organizations

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.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      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.

      Where to Start

      • 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.

        In-Depth Information

        • 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.

          References

          1. Jeanne Marie Baffa. Atrial Septal Defect (ASD). Merck Manual. January, 2014; https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrial-septal-defect-asd.
          2. Atrial Septal Defect. Cleveland Clinic. 2016; https://my.clevelandclinic.org/services/heart/disorders/congenital-heart/atrial-septal-defect-asd.
          3. 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.
          4. Marla J. F. O'Neill. ATRIAL SEPTAL DEFECT 1; ASD1. OMIM. February 9, 2012; https://www.omim.org/entry/108800.
          5. Heidi M Connolly. Indications for closure and medical management of atrial septal defects in adults. UpToDate. Waltham, MA: UpToDate; July, 2016;

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