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SUDDEN INFANT DEATH SYNDROME(SIDS)

MedGen UID:
52548
Concept ID:
C0038644
Disease or Syndrome
Synonyms: CAV3-Related Sudden Infant Death Syndrome; SIDS; Sudden Infant Death
SNOMED CT: SIDS - sudden infant death syndrome (51178009); Sudden infant death syndrome (51178009); Unexpected sudden death of infant (51178009); Crib death (51178009); Cot death (51178009)
 
Gene (location): SCN5A (3p22.2)
 
OMIM®: 272120

Definition

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from OMIM]

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Apneic episodes in infancy
MedGen UID:
814310
Concept ID:
C3807980
Finding
Recurrent episodes of apnea occurring during infancy.
Malignant hyperthermia
MedGen UID:
1830388
Concept ID:
C5779784
Pathologic Function
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSUDDEN INFANT DEATH SYNDROME

Professional guidelines

PubMed

US Preventive Services Task Force, Krist AH, Davidson KW, Mangione CM, Barry MJ, Cabana M, Caughey AB, Donahue K, Doubeni CA, Epling JW Jr, Kubik M, Ogedegbe G, Pbert L, Silverstein M, Simon MA, Tseng CW, Wong JB
JAMA 2021 Jan 19;325(3):265-279. doi: 10.1001/jama.2020.25019. PMID: 33464343
Marshall JM, Shahzad F
Pediatr Ann 2020 Oct 1;49(10):e440-e447. doi: 10.3928/19382359-20200922-02. PMID: 33034660
Gelfer P, Tatum M
J Pediatr Health Care 2014 Sep-Oct;28(5):470-4. Epub 2014 Jun 16 doi: 10.1016/j.pedhc.2014.04.007. PMID: 24944089

Recent clinical studies

Etiology

Harrington CT, Hafid NA, Waters KA
EBioMedicine 2022 Jun;80:104041. Epub 2022 May 6 doi: 10.1016/j.ebiom.2022.104041. PMID: 35533499Free PMC Article
Jullien S
BMC Pediatr 2021 Sep 8;21(Suppl 1):320. doi: 10.1186/s12887-021-02536-z. PMID: 34496779Free PMC Article
Horne RSC
Intern Med J 2019 Apr;49(4):433-438. doi: 10.1111/imj.14248. PMID: 30957377
Straw J, Jones P
Nurs Child Young People 2017 Dec 5;29(10):24-29. doi: 10.7748/ncyp.2017.e945. PMID: 29206359
Adams SM, Ward CE, Garcia KL
Am Fam Physician 2015 Jun 1;91(11):778-83. PMID: 26034855

Diagnosis

Watson AL, Winters R
Facial Plast Surg Clin North Am 2024 Feb;32(1):127-139. Epub 2023 Aug 3 doi: 10.1016/j.fsc.2023.06.004. PMID: 37981408
Santiago GS, Santiago CN, Chwa ES, Purnell CA
Pediatr Ann 2023 Jan;52(1):e10-e17. Epub 2023 Jan 1 doi: 10.3928/19382359-20221114-03. PMID: 36625797
Harrington CT, Hafid NA, Waters KA
EBioMedicine 2022 Jun;80:104041. Epub 2022 May 6 doi: 10.1016/j.ebiom.2022.104041. PMID: 35533499Free PMC Article
Baruteau AE, Tester DJ, Kapplinger JD, Ackerman MJ, Behr ER
Nat Rev Cardiol 2017 Dec;14(12):715-726. Epub 2017 Sep 7 doi: 10.1038/nrcardio.2017.129. PMID: 28880023
Moon RY; TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) doi: 10.1542/peds.2016-2940. PMID: 27940805

Therapy

Savarirayan R, Wilcox WR, Harmatz P, Phillips J 3rd, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J
Lancet Child Adolesc Health 2024 Jan;8(1):40-50. Epub 2023 Nov 18 doi: 10.1016/S2352-4642(23)00265-1. PMID: 37984383
Carreras G, Lugo A, Gallus S, Cortini B, Fernández E, López MJ, Soriano JB, López-Nicolás A, Semple S, Gorini G; TackSHS Project Investigators
Prev Med 2019 Dec;129:105833. Epub 2019 Sep 7 doi: 10.1016/j.ypmed.2019.105833. PMID: 31505203
Horne RSC
Intern Med J 2019 Apr;49(4):433-438. doi: 10.1111/imj.14248. PMID: 30957377
Straw J, Jones P
Nurs Child Young People 2017 Dec 5;29(10):24-29. doi: 10.7748/ncyp.2017.e945. PMID: 29206359
Polin RA, Brown LW
Pediatr Clin North Am 1979 May;26(2):345-54. doi: 10.1016/s0031-3955(16)33710-5. PMID: 379778

Prognosis

Kaler J, Hussain A, Lee S
Crit Rev Eukaryot Gene Expr 2020;30(2):111-120. doi: 10.1615/CritRevEukaryotGeneExpr.2020033009. PMID: 32558490
Moon RY; TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) doi: 10.1542/peds.2016-2940. PMID: 27940805
Adams SM, Ward CE, Garcia KL
Am Fam Physician 2015 Jun 1;91(11):778-83. PMID: 26034855
Salomonis N
Pediatr Res 2014 Sep;76(3):220-9. Epub 2014 Jun 25 doi: 10.1038/pr.2014.90. PMID: 24964230Free PMC Article
Creery D, Mikrogianakis A
Am Fam Physician 2003 Oct 1;68(7):1375-6. PMID: 14567492

Clinical prediction guides

Jullien S
BMC Pediatr 2021 Sep 8;21(Suppl 1):320. doi: 10.1186/s12887-021-02536-z. PMID: 34496779Free PMC Article
Pease AS, Fleming PJ, Hauck FR, Moon RY, Horne RS, L'Hoir MP, Ponsonby AL, Blair PS
Pediatrics 2016 Jun;137(6) Epub 2016 May 9 doi: 10.1542/peds.2015-3275. PMID: 27244847
Scadding GK, Brock C, Chouiali F, Hamid Q
Curr Pediatr Rev 2014;10(4):309-13. doi: 10.2174/1573396311666150113213133. PMID: 25594528Free PMC Article
Alfelali M, Khandaker G
Paediatr Respir Rev 2014 Dec;15(4):307-11. Epub 2014 Sep 19 doi: 10.1016/j.prrv.2014.09.004. PMID: 25441371
Hauck FR, Tanabe KO
BMJ Clin Evid 2009 Jun 5;2009 PMID: 21726486Free PMC Article

Recent systematic reviews

Bhandari AP, Nnate DA, Vasanthan L, Konstantinidis M, Thompson J
Cochrane Database Syst Rev 2022 Jun 6;6(6):CD003645. doi: 10.1002/14651858.CD003645.pub4. PMID: 35661343Free PMC Article
Carreras G, Lugo A, Gallus S, Cortini B, Fernández E, López MJ, Soriano JB, López-Nicolás A, Semple S, Gorini G; TackSHS Project Investigators
Prev Med 2019 Dec;129:105833. Epub 2019 Sep 7 doi: 10.1016/j.ypmed.2019.105833. PMID: 31505203
Banderali G, Martelli A, Landi M, Moretti F, Betti F, Radaelli G, Lassandro C, Verduci E
J Transl Med 2015 Oct 15;13:327. doi: 10.1186/s12967-015-0690-y. PMID: 26472248Free PMC Article
Hauck FR, Tanabe KO
BMJ Clin Evid 2009 Jun 5;2009 PMID: 21726486Free PMC Article
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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