Rare Hematology News

Disease Profile

Atrial septal defect sinus venosus

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)

Sinus venosus atrial septal defects; Sinus venosus 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
80%-99% of people have these symptoms
Left-to-right shunt
0012382
30%-79% of people have these symptoms
Anomalous pulmonary venous return
0010772
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
Paradoxical splitting of the second heart sound
0031663
Systolic heart murmur
0031664
5%-29% of people have these symptoms
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Atrial flutter
0004749
Automatic atrial tachycardia
0011700
First degree atrioventricular block
0011705
Junctional ectopic tachycardia
0011716
Premature atrial contractions
0006699
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Right bundle branch block
0011712
Right ventricular dilatation
0005133
Tricuspid regurgitation
0005180
1%-4% of people have these symptoms
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Pulmonary obstruction
Obstructive lung disease
0006536
Stroke
0001297
Thromboembolism
0001907

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.