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Orthostatic intolerance

MedGen UID:
283928
Concept ID:
C1535893
Finding
Synonyms: Irritable heart; Mitral valve prolapse syndrome; Neurocirculatory asthenia; Norepinephrine Transporter Deficiency; Soldiers heart
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SLC6A2 (16q12.2)
OMIM®: 604715
Orphanet: ORPHA443236

Definition

A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision. [from NCI]

Clinical features

From HPO
Orthostatic tachycardia
MedGen UID:
866749
Concept ID:
C4021099
Finding
An increase in heart rate with standing of 30 beats per minute or more.

Recent clinical studies

Etiology

Skarin MU, Rice DA, McNair PJ, Kluger MT
Eur J Anaesthesiol 2019 Feb;36(2):123-129. doi: 10.1097/EJA.0000000000000940. PMID: 30540643
Zhang LN, Moak JP, Desbiens J, Hanumanthaiah S, Fabian RR, Clarke L, Sahay RD, Darbari A
J Pediatr 2019 Feb;205:138-144. Epub 2018 Oct 24 doi: 10.1016/j.jpeds.2018.09.048. PMID: 30529135
Richardson AM, Lewis DP, Kita B, Ludlow H, Groome NP, Hedger MP, de Kretser DM, Lidbury BA
J Transl Med 2018 Apr 12;16(1):97. doi: 10.1186/s12967-018-1473-z. PMID: 29650052Free PMC Article
Posey JE, Martinez R, Lankford JE, Lupski JR, Numan MT, Butler IJ
Pediatr Neurol 2017 Jan;66:53-58.e5. Epub 2016 Sep 24 doi: 10.1016/j.pediatrneurol.2016.09.013. PMID: 27773421Free PMC Article
Lee H, Kim HA
Clin Neurophysiol 2016 Apr;127(4):2102-7. Epub 2016 Jan 8 doi: 10.1016/j.clinph.2015.12.017. PMID: 26806722

Diagnosis

Zhang LN, Moak JP, Desbiens J, Hanumanthaiah S, Fabian RR, Clarke L, Sahay RD, Darbari A
J Pediatr 2019 Feb;205:138-144. Epub 2018 Oct 24 doi: 10.1016/j.jpeds.2018.09.048. PMID: 30529135
Richardson AM, Lewis DP, Kita B, Ludlow H, Groome NP, Hedger MP, de Kretser DM, Lidbury BA
J Transl Med 2018 Apr 12;16(1):97. doi: 10.1186/s12967-018-1473-z. PMID: 29650052Free PMC Article
Posey JE, Martinez R, Lankford JE, Lupski JR, Numan MT, Butler IJ
Pediatr Neurol 2017 Jan;66:53-58.e5. Epub 2016 Sep 24 doi: 10.1016/j.pediatrneurol.2016.09.013. PMID: 27773421Free PMC Article
Lee H, Kim HA
Clin Neurophysiol 2016 Apr;127(4):2102-7. Epub 2016 Jan 8 doi: 10.1016/j.clinph.2015.12.017. PMID: 26806722
Miwa K
Heart Vessels 2016 Sep;31(9):1522-8. Epub 2015 Sep 15 doi: 10.1007/s00380-015-0744-3. PMID: 26374335

Therapy

Owens AP, Low DA, Critchley HD, Mathias CJ
Auton Neurosci 2018 Jul;212:42-47. Epub 2018 Jan 31 doi: 10.1016/j.autneu.2018.01.004. PMID: 29519640
Moak JP, Leong D, Fabian R, Freedenberg V, Jarosz E, Toney C, Hanumanthaiah S, Darbari A
Pediatr Cardiol 2016 Feb;37(2):278-82. Epub 2015 Oct 7 doi: 10.1007/s00246-015-1274-6. PMID: 26446285
Dumbravă EL, Cojocaru DC, Postolache P
Rev Med Chir Soc Med Nat Iasi 2014 Jan-Mar;118(1):75-80. PMID: 24741779
Kruit MC, Thijs RD, Ferrari MD, Launer LJ, van Buchem MA, van Dijk JG
Neurology 2013 May 21;80(21):1958-65. Epub 2013 Apr 24 doi: 10.1212/WNL.0b013e318293e1c7. PMID: 23616159Free PMC Article
Iwata Y, Mizota Y, Mizota T, Koyama T, Shichino T
J Anesth 2012 Aug;26(4):503-8. Epub 2012 Apr 21 doi: 10.1007/s00540-012-1391-9. PMID: 22526434

Prognosis

Skarin MU, Rice DA, McNair PJ, Kluger MT
Eur J Anaesthesiol 2019 Feb;36(2):123-129. doi: 10.1097/EJA.0000000000000940. PMID: 30540643
Zhang LN, Moak JP, Desbiens J, Hanumanthaiah S, Fabian RR, Clarke L, Sahay RD, Darbari A
J Pediatr 2019 Feb;205:138-144. Epub 2018 Oct 24 doi: 10.1016/j.jpeds.2018.09.048. PMID: 30529135
Wagoner AL, Tarbell SE, Shaltout HA, Diz DI, Weese-Mayer DE, Fortunato JE
Neurogastroenterol Motil 2018 Nov;30(11):e13433. Epub 2018 Aug 13 doi: 10.1111/nmo.13433. PMID: 30101470
Owens AP, Low DA, Critchley HD, Mathias CJ
Auton Neurosci 2018 Jul;212:42-47. Epub 2018 Jan 31 doi: 10.1016/j.autneu.2018.01.004. PMID: 29519640
Stewart JM, Boris JR, Chelimsky G, Fischer PR, Fortunato JE, Grubb BP, Heyer GL, Jarjour IT, Medow MS, Numan MT, Pianosi PT, Singer W, Tarbell S, Chelimsky TC; Pediatric Writing Group of the American Autonomic Society.
Pediatrics 2018 Jan;141(1) Epub 2017 Dec 8 doi: 10.1542/peds.2017-1673. PMID: 29222399Free PMC Article

Clinical prediction guides

Skarin MU, Rice DA, McNair PJ, Kluger MT
Eur J Anaesthesiol 2019 Feb;36(2):123-129. doi: 10.1097/EJA.0000000000000940. PMID: 30540643
Zhang LN, Moak JP, Desbiens J, Hanumanthaiah S, Fabian RR, Clarke L, Sahay RD, Darbari A
J Pediatr 2019 Feb;205:138-144. Epub 2018 Oct 24 doi: 10.1016/j.jpeds.2018.09.048. PMID: 30529135
Richardson AM, Lewis DP, Kita B, Ludlow H, Groome NP, Hedger MP, de Kretser DM, Lidbury BA
J Transl Med 2018 Apr 12;16(1):97. doi: 10.1186/s12967-018-1473-z. PMID: 29650052Free PMC Article
Posey JE, Martinez R, Lankford JE, Lupski JR, Numan MT, Butler IJ
Pediatr Neurol 2017 Jan;66:53-58.e5. Epub 2016 Sep 24 doi: 10.1016/j.pediatrneurol.2016.09.013. PMID: 27773421Free PMC Article
Miwa K
Heart Vessels 2016 Sep;31(9):1522-8. Epub 2015 Sep 15 doi: 10.1007/s00380-015-0744-3. PMID: 26374335

Recent systematic reviews

Pertab JL, Merkley TL, Cramond AJ, Cramond K, Paxton H, Wu T
NeuroRehabilitation 2018;42(4):397-427. doi: 10.3233/NRE-172298. PMID: 29660949Free PMC Article
Gee ME, Watkins AK, Brown JN, Young EJA
Am J Cardiovasc Drugs 2018 Jun;18(3):195-204. doi: 10.1007/s40256-017-0252-1. PMID: 29330767
Ruzieh M, Batizy L, Dasa O, Oostra C, Grubb B
Scand Cardiovasc J 2017 Oct;51(5):243-247. Epub 2017 Jul 24 doi: 10.1080/14017431.2017.1355068. PMID: 28738696
Mills PB, Fung CK, Travlos A, Krassioukov A
Arch Phys Med Rehabil 2015 Feb;96(2):366-375.e6. Epub 2014 Oct 14 doi: 10.1016/j.apmr.2014.09.028. PMID: 25449193

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