Rare Pediatrics News
Disease Profile
Postural orthostatic tachycardia syndrome
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.
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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.
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.
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.
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.
Not applicable
Other names (AKA)
POTS; Postural tachycardia syndrome; Chronic othostatic intolerance
Categories
Heart Diseases; RDCRN
Summary
Postural orthostatic tachycardia
Symptoms
Other symptoms that have been reported in people with POTS include:[2][4][3][5]
- Blurred vision
- Lightheadedness, dizziness or fainting
- Heart palpitations
- Headache
- Poor concentration
- Tiredness
- Gastrointestinal symptoms (for example, nausea, cramps, bloating, constipation, diarrhea)
- Shortness of breath
- Head, neck or chest discomfort
- Weakness
- Sleep disorders
- Difficulty exercising
- Anxiety
- Coldness or pain in the extremities
While the underlying causes of POTS are still being studied, a number of underlying conditions have been associated with POTS or with symptoms seen in POTS.[5] More information about these conditions can be viewed on Dysautonomia International's website.
Cause
Many researchers suspect that the condition may have more than one cause. The following abnormalities can be associated with POTS and may play a role in it's development:[1][4]
- Impaired function of nerves in certain muscles, especially those in the legs and feet.
- An abnormal decrease in the amount of blood circulating in the body (caused, for example, by blood pooling in the abdomen and legs).
- Too little blood returning to the heart when moving from a lying down to a standing up position.
- Changes in heart and blood vessel function.
- Abnormal regulation of blood pressure.
- Increased fight-or-flight response.
Although most cases of POTS occur in people with no history of the condition in their family, some affected people report a
Diagnosis
Treatment
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
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Dysautonomia Information Network
PO Box 10057
Swanzey, NH 03446, NH 03446
E-mail: [email protected]
Website: https://www.dinet.org/ -
Dysautonomia International
P.O. Box 596
East Moriches, NY 11940
E-mail: [email protected]
Website: https://www.dysautonomiainternational.org/ -
Dysautonomia Support Network
140 Pittman Street, Unit 106
Providence, RI 02906
Telephone: 401-830-4480
Website: https://www.dysautonomiasupport.org/ -
Standing Up To POTS
1994 Ballentine Pike
Springfield, OH 45502
E-mail: [email protected]
Website: https://standinguptopots.org/
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
- Dysautonomia International offers an information page on Postural orthostatic tachycardia syndrome. Please click on the link to access this resource.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Postural orthostatic tachycardia syndrome. Click on the link to view a sample search on this topic.
References
- NINDS Postural Tachycardia Syndrome Information Page. National Institute of Neurological Disorders and Stroke. December 2015; https://www.ninds.nih.gov/Disorders/All-Disorders/Postural-Tachycardia-Syndrome-Information-Page.
- Postural Tachycardia Syndrome (POTS). Autonomic Disorders Consortium. https://www.rarediseasesnetwork.org/ARDCRC/patients/learnmore/POTS/index.htm.
- Mohini Gurme, MD. Idiopathic Orthostatic Hypotension and other Autonomic Failure Syndromes. Medscape Reference. November 2015; https://emedicine.medscape.com/article/1154266-overview.
- Kaufmann H & Freeman R. Postural tachycardia syndrome. UpToDate. March 2015; https://www.uptodate.com/contents/postural-tachycardia-syndrome.
- Postural Orthostatic Tachycardia Syndrome. Dysautonomia International. https://www.dysautonomiainternational.org/page.php?ID=30. Accessed 3/6/2016.
- Kimpinski K, Figueroa JJ, Singer W, Sletten DM, Iodice V, Sandroni P, Fischer PR, Opfer-Gehrking TL, Gehrking JA, Low PA. A prospective, 1-year follow-up study of postural tachycardia syndrome. Mayo Clin Proc. August 2012; 87(8):746-752.
- What is dysautonomia?. Dysautonomia International. 2012; https://www.dysautonomiainternational.org/page.php?ID=34.
- Autonomic Disorders Information for Patients and Families. Autonomic Disorders Consortium. https://www.rarediseasesnetwork.org/cms/autonomic/Learn-More/Disorder-Definitions.
- A K Agarwal, R Garg, A Ritch, and P Sarkar. Postural orthostatic tachycardia syndrome. Postgrad Med J. July, 2007; 83(981):478-480. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2600095/#__sec1title.
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