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Ischemic stroke

MedGen UID:
215292
Concept ID:
C0948008
Disease or Syndrome
Synonyms: CEREBROVASCULAR ACCIDENT; Ischemic stroke, susceptibility to
SNOMED CT: Ischemic stroke (422504002)
 
Genes (locations): ALOX5AP (13q12.3); F2 (11p11.2); F5 (1q24.2); NOS3 (7q36.1); PRKCH (14q23.1)
 
HPO: HP:0002140
OMIM®: 601367

Definition

A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes. Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741). See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519). [from OMIM]

Clinical features

From HPO
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.

Conditions with this feature

Sneddon syndrome
MedGen UID:
76449
Concept ID:
C0282492
Disease or Syndrome
Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).
Telangiectasia, hereditary hemorrhagic, type 2
MedGen UID:
324960
Concept ID:
C1838163
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Hereditary hemorrhagic telangiectasia type 4
MedGen UID:
341824
Concept ID:
C1857688
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Arterial tortuosity syndrome
MedGen UID:
347942
Concept ID:
C1859726
Disease or Syndrome
Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).
Thrombocythemia 3
MedGen UID:
482755
Concept ID:
C3281125
Disease or Syndrome
Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950).
Moyamoya disease with early-onset achalasia
MedGen UID:
816733
Concept ID:
C3810403
Disease or Syndrome
Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Telangiectasia, hereditary hemorrhagic, type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Brain small vessel disease 1 with or without ocular anomalies
MedGen UID:
1647320
Concept ID:
C4551998
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).

Professional guidelines

PubMed

Rigual R, Fuentes B, Díez-Tejedor E
Med Clin (Barc) 2023 Dec 7;161(11):485-492. Epub 2023 Jul 31 doi: 10.1016/j.medcli.2023.06.022. PMID: 37532617
Stewart MH
Curr Opin Cardiol 2023 Jul 1;38(4):311-317. Epub 2023 Mar 28 doi: 10.1097/HCO.0000000000001049. PMID: 37016936
Herpich F, Rincon F
Crit Care Med 2020 Nov;48(11):1654-1663. doi: 10.1097/CCM.0000000000004597. PMID: 32947473Free PMC Article

Curated

UK NICE Guideline (NG236), Stroke rehabilitation in adults, 2023

Recent clinical studies

Etiology

Bangad A, Abbasi M, de Havenon A
Neurotherapeutics 2023 Apr;20(3):721-731. Epub 2023 Mar 6 doi: 10.1007/s13311-023-01352-w. PMID: 36877331Free PMC Article
Pohl M, Hesszenberger D, Kapus K, Meszaros J, Feher A, Varadi I, Pusch G, Fejes E, Tibold A, Feher G
J Clin Neurosci 2021 Nov;93:174-182. Epub 2021 Sep 20 doi: 10.1016/j.jocn.2021.09.025. PMID: 34656244
Green TL, McNair ND, Hinkle JL, Middleton S, Miller ET, Perrin S, Power M, Southerland AM, Summers DV; American Heart Association Stroke Nursing Committee of the Council on Cardiovascular and Stroke Nursing and the Stroke Council
Stroke 2021 May;52(5):e179-e197. Epub 2021 Mar 11 doi: 10.1161/STR.0000000000000357. PMID: 33691469
Paul S, Candelario-Jalil E
Exp Neurol 2021 Jan;335:113518. Epub 2020 Nov 2 doi: 10.1016/j.expneurol.2020.113518. PMID: 33144066Free PMC Article
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758

Diagnosis

DeLong JH, Ohashi SN, O'Connor KC, Sansing LH
Semin Immunopathol 2022 Sep;44(5):625-648. Epub 2022 Jun 29 doi: 10.1007/s00281-022-00943-7. PMID: 35767089
Tuo QZ, Zhang ST, Lei P
Med Res Rev 2022 Jan;42(1):259-305. Epub 2021 May 6 doi: 10.1002/med.21817. PMID: 33957000
Pohl M, Hesszenberger D, Kapus K, Meszaros J, Feher A, Varadi I, Pusch G, Fejes E, Tibold A, Feher G
J Clin Neurosci 2021 Nov;93:174-182. Epub 2021 Sep 20 doi: 10.1016/j.jocn.2021.09.025. PMID: 34656244
Herpich F, Rincon F
Crit Care Med 2020 Nov;48(11):1654-1663. doi: 10.1097/CCM.0000000000004597. PMID: 32947473Free PMC Article
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758

Therapy

Mastrangelo M, Giordo L, Ricciardi G, De Michele M, Toni D, Leuzzi V
Eur J Pediatr 2022 Jan;181(1):45-58. Epub 2021 Jul 29 doi: 10.1007/s00431-021-04212-x. PMID: 34327611Free PMC Article
Paul S, Candelario-Jalil E
Exp Neurol 2021 Jan;335:113518. Epub 2020 Nov 2 doi: 10.1016/j.expneurol.2020.113518. PMID: 33144066Free PMC Article
Warach SJ, Dula AN, Milling TJ Jr
Stroke 2020 Nov;51(11):3440-3451. Epub 2020 Oct 13 doi: 10.1161/STROKEAHA.120.029749. PMID: 33045929Free PMC Article
Nidorf SM, Fiolet ATL, Mosterd A, Eikelboom JW, Schut A, Opstal TSJ, The SHK, Xu XF, Ireland MA, Lenderink T, Latchem D, Hoogslag P, Jerzewski A, Nierop P, Whelan A, Hendriks R, Swart H, Schaap J, Kuijper AFM, van Hessen MWJ, Saklani P, Tan I, Thompson AG, Morton A, Judkins C, Bax WA, Dirksen M, Alings M, Hankey GJ, Budgeon CA, Tijssen JGP, Cornel JH, Thompson PL; LoDoCo2 Trial Investigators
N Engl J Med 2020 Nov 5;383(19):1838-1847. Epub 2020 Aug 31 doi: 10.1056/NEJMoa2021372. PMID: 32865380
Ntaios G
J Am Coll Cardiol 2020 Jan 28;75(3):333-340. doi: 10.1016/j.jacc.2019.11.024. PMID: 31976872

Prognosis

Zambrano MD, Miller EC
Curr Atheroscler Rep 2019 Jun 22;21(9):33. doi: 10.1007/s11883-019-0798-2. PMID: 31230137Free PMC Article
Kraus WE, Powell KE, Haskell WL, Janz KF, Campbell WW, Jakicic JM, Troiano RP, Sprow K, Torres A, Piercy KL; 2018 PHYSICAL ACTIVITY GUIDELINES ADVISORY COMMITTEE*
Med Sci Sports Exerc 2019 Jun;51(6):1270-1281. doi: 10.1249/MSS.0000000000001939. PMID: 31095084Free PMC Article
GBD 2016 Lifetime Risk of Stroke Collaborators, Feigin VL, Nguyen G, Cercy K, Johnson CO, Alam T, Parmar PG, Abajobir AA, Abate KH, Abd-Allah F, Abejie AN, Abyu GY, Ademi Z, Agarwal G, Ahmed MB, Akinyemi RO, Al-Raddadi R, Aminde LN, Amlie-Lefond C, Ansari H, Asayesh H, Asgedom SW, Atey TM, Ayele HT, Banach M, Banerjee A, Barac A, Barker-Collo SL, Bärnighausen T, Barregard L, Basu S, Bedi N, Behzadifar M, Béjot Y, Bennett DA, Bensenor IM, Berhe DF, Boneya DJ, Brainin M, Campos-Nonato IR, Caso V, Castañeda-Orjuela CA, Rivas JC, Catalá-López F, Christensen H, Criqui MH, Damasceno A, Dandona L, Dandona R, Davletov K, de Courten B, deVeber G, Dokova K, Edessa D, Endres M, Faraon EJA, Farvid MS, Fischer F, Foreman K, Forouzanfar MH, Gall SL, Gebrehiwot TT, Geleijnse JM, Gillum RF, Giroud M, Goulart AC, Gupta R, Gupta R, Hachinski V, Hamadeh RR, Hankey GJ, Hareri HA, Havmoeller R, Hay SI, Hegazy MI, Hibstu DT, James SL, Jeemon P, John D, Jonas JB, Jóźwiak J, Kalani R, Kandel A, Kasaeian A, Kengne AP, Khader YS, Khan AR, Khang YH, Khubchandani J, Kim D, Kim YJ, Kivimaki M, Kokubo Y, Kolte D, Kopec JA, Kosen S, Kravchenko M, Krishnamurthi R, Kumar GA, Lafranconi A, Lavados PM, Legesse Y, Li Y, Liang X, Lo WD, Lorkowski S, Lotufo PA, Loy CT, Mackay MT, Abd El Razek HM, Mahdavi M, Majeed A, Malekzadeh R, Malta DC, Mamun AA, Mantovani LG, Martins SCO, Mate KK, Mazidi M, Mehata S, Meier T, Melaku YA, Mendoza W, Mensah GA, Meretoja A, Mezgebe HB, Miazgowski T, Miller TR, Ibrahim NM, Mohammed S, Mokdad AH, Moosazadeh M, Moran AE, Musa KI, Negoi RI, Nguyen M, Nguyen QL, Nguyen TH, Tran TT, Nguyen TT, Anggraini Ningrum DN, Norrving B, Noubiap JJ, O’Donnell MJ, Olagunju AT, Onuma OK, Owolabi MO, Parsaeian M, Patton GC, Piradov M, Pletcher MA, Pourmalek F, Prakash V, Qorbani M, Rahman M, Rahman MA, Rai RK, Ranta A, Rawaf D, Rawaf S, Renzaho AM, Robinson SR, Sahathevan R, Sahebkar A, Salomon JA, Santalucia P, Santos IS, Sartorius B, Schutte AE, Sepanlou SG, Shafieesabet A, Shaikh MA, Shamsizadeh M, Sheth KN, Sisay M, Shin MJ, Shiue I, Silva DAS, Sobngwi E, Soljak M, Sorensen RJD, Sposato LA, Stranges S, Suliankatchi RA, Tabarés-Seisdedos R, Tanne D, Nguyen CT, Thakur JS, Thrift AG, Tirschwell DL, Topor-Madry R, Tran BX, Nguyen LT, Truelsen T, Tsilimparis N, Tyrovolas S, Ukwaja KN, Uthman OA, Varakin Y, Vasankari T, Venketasubramanian N, Vlassov VV, Wang W, Werdecker A, Wolfe CDA, Xu G, Yano Y, Yonemoto N, Yu C, Zaidi Z, El Sayed Zaki M, Zhou M, Ziaeian B, Zipkin B, Vos T, Naghavi M, Murray CJL, Roth GA
N Engl J Med 2018 Dec 20;379(25):2429-2437. doi: 10.1056/NEJMoa1804492. PMID: 30575491Free PMC Article
Kroll ME, Green J, Beral V, Sudlow CL, Brown A, Kirichek O, Price A, Yang TO, Reeves GK; Million Women Study Collaborators
Neurology 2016 Oct 4;87(14):1473-1481. Epub 2016 Sep 7 doi: 10.1212/WNL.0000000000003171. PMID: 27605176Free PMC Article
Clark ME, Payton JE, Pittiglio LI
Crit Care Nurs Q 2014 Apr-Jun;37(2):182-7. doi: 10.1097/CNQ.0000000000000015. PMID: 24595255

Clinical prediction guides

Fiehler J, Thomalla G, Bernhardt M, Kniep H, Berlis A, Dorn F, Eckert B, Kemmling A, Langner S, Remonda L, Reith W, Rohde S, Möhlenbruch M, Bendszus M, Forkert ND, Gellissen S
Stroke 2019 May;50(5):1275-1278. doi: 10.1161/STROKEAHA.119.024858. PMID: 31009356
Heo J, Yoon JG, Park H, Kim YD, Nam HS, Heo JH
Stroke 2019 May;50(5):1263-1265. doi: 10.1161/STROKEAHA.118.024293. PMID: 30890116
Alonso A, Norby FL
Circ J 2016 Apr 25;80(5):1061-6. Epub 2016 Mar 24 doi: 10.1253/circj.CJ-16-0239. PMID: 27008924Free PMC Article
Arsava EM, Kim GM, Oliveira-Filho J, Gungor L, Noh HJ, Lordelo Mde J, Avery R, Maier IL, Ay H
JAMA Neurol 2016 Apr;73(4):396-401. doi: 10.1001/jamaneurol.2015.4949. PMID: 26926383
Ding Q, White SP, Ling C, Zhou W
Trends Cardiovasc Med 2011 Jan;21(1):20-7. doi: 10.1016/j.tcm.2012.01.004. PMID: 22498016

Recent systematic reviews

Gurková E, Štureková L, Mandysová P, Šaňák D
Health Qual Life Outcomes 2023 Jan 19;21(1):4. doi: 10.1186/s12955-023-02090-5. PMID: 36653785Free PMC Article
Lun R, Dhaliwal S, Zitikyte G, Roy DC, Hutton B, Dowlatshahi D
JAMA Neurol 2022 Feb 1;79(2):141-148. doi: 10.1001/jamaneurol.2021.4514. PMID: 34870698Free PMC Article
Luo W, Liu X, Bao K, Huang C
J Neurol 2022 Apr;269(4):1731-1740. Epub 2021 Oct 15 doi: 10.1007/s00415-021-10837-7. PMID: 34652503Free PMC Article
Kolmos M, Christoffersen L, Kruuse C
J Stroke Cerebrovasc Dis 2021 Aug;30(8):105935. Epub 2021 Jun 18 doi: 10.1016/j.jstrokecerebrovasdis.2021.105935. PMID: 34153594
Prabhakaran S, Ruff I, Bernstein RA
JAMA 2015 Apr 14;313(14):1451-62. doi: 10.1001/jama.2015.3058. PMID: 25871671

Supplemental Content

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    Clinical resources

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    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Guideline (NG236), Stroke rehabilitation in adults, 2023

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