Rare Cardiology News

Disease Profile

Aortic valve stenosis

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

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ICD-10

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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)

Aortic stenosis; Valvular aortic stenosis

Summary

Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body.[1] AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur.[1][2] Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning.[2] The condition can eventually lead to heart failure. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. Treatment may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition.[1]

Cause

Aortic valve stenosis can be congenital (present at birth) or can develop later in life. When the condition is congenital, it is typically due to abnormal development of the aortic valve either it forms abnormally narrow, or it is made up of one flap or leaflet (called a unicuspid valve, which is very rare) or two leaflets (bicuspid valve) instead of the usual three. Having a bicuspid valve can run in families. A bicuspid valve may not cause any problems until adulthood, when the valve begins to narrow or leak. In most cases, the exact underlying cause of congenital aortic valve stenosis is unknown.[1] Aortic valve stenosis can also be caused by the buildup of calcium deposits on the heart valve with increasing age. This cause is most common in people older than 65. Rheumatic fever can also cause the condition because it may result in scar tissue forming on the valve, causing the leaflets to stiffen and fuse. Rheumatic fever can also cause a rough surface on the valve, which can lead to accumulation of calcium deposits later in life.[1]

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aortic valve stenosis. Click on the link to view a sample search on this topic.

References

  1. Aortic valve stenosis. Mayo Clinic. July 13, 2012; https://www.mayoclinic.com/health/aortic-valve-stenosis/DS00418. Accessed 7/2/2013.
  2. Guy P. Armstrong. Aortic Stenosis. Merck Manuals. March 2013; https://www.merckmanuals.com/home/heart_and_blood_vessel_disorders/heart_valve_disorders/aortic_stenosis.html?qt=aortic stenosis&alt=sh. Accessed 7/2/2013.

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