Rare Ophthalmology News

Disease Profile

Atrial septal defect ostium primum

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

Q21.2

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 primum type; Ostium primum ASD

Categories

Congenital and Genetic Diseases; Heart Diseases

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
30%-79% of people have these symptoms
Abnormal P wave
0031595
Abnormally loud pulmonic component of the second heart sound
0031687
Exertional dyspnea
0002875
Fatigue
Tired
Tiredness

[ more ]

0012378
First degree atrioventricular block
0011705
Fixed splitting of the second heart sound
0031662
Left ventricular hypertrophy
0001712
Mitral regurgitation
0001653
Palpitations
Missed heart beat
Skipped heart beat

[ more ]

0001962
Prolonged PR interval
0012248
Pulmonary artery dilatation
0004927
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Right bundle branch block
0011712
Right ventricular dilatation
0005133
Systolic heart murmur
0031664
Third heart sound
0031658
Tricuspid regurgitation
0005180
5%-29% of people have these symptoms
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Atrial flutter
0004749
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

0100759
Clubbing of toes
0100760
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cyanosis
Blue discoloration of the skin
0000961
Decreased pulmonary function
Decreased lung function
Impaired lung function

[ more ]

0005952
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hemoptysis
Coughing up blood
0002105
Left atrial enlargement
0031295
Peripheral edema
0012398
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonary obstruction
Obstructive lung disease
0006536
Right atrial enlargement
0030718
Right-to-left shunt
0001694
Syncope
Fainting spell
0001279
Tachypnea
Increased respiratory rate or depth of breathing
0002789
Thromboembolism
0001907
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

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

  • 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 Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.

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 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 Atrial septal defect ostium primum. Click on the link to view a sample search on this topic.