Sudden infant death syndrome pathophysiology: Difference between revisions

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==Gross Pathology==
==Gross Pathology==
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
 
* On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
** Numerous petechiae within the thymus and epicardium and plural visceral surfaces is a very distinctive feature of SIDS.
** Beckwith’s sign<ref name="Byard2010">{{cite journal|last1=Byard|first1=Roger W.|year=2010|doi=10.1017/CBO9780511777783}}</ref>
** Edematous and congested lungs on gross examination.
**
 
<br />


==Microscopic Pathology==
==Microscopic Pathology==

Revision as of 15:32, 25 February 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

The exact pathogenesis of Sudden infant death syndrome (SIDS) is not fully understood. It is thought that Sudden infant death syndrome (SIDS) may be caused by either genetic mutations, brainstem abnormality, airflow obstruction, maternal smoking, or infection.

Pathophysiology

Pathogenesis

  • The exact pathogenesis of Sudden infant death syndrome (SIDS) is not completely understood.
  • The pathogenesis of Sudden infant death syndrome (SIDS) involves the following:

Brain anomalies

  • New evidence shows that brainstem anomalies which involves cardiorespiratory control in the midbrain is a significant player in developing sudden infant death syndrome (SIDS).[1][2][3]
  • Abnormal 5-hydroxytryptamine [5-HT] which is also called serotonin signalling pathway is also implicated in the pathogenesis of developing sudden infant death syndrome (SIDS).[4][5]
  • Alterations in the serotonin signalling pathway leads to disturbances in medulla which in turn results in disturbances in autonomic processes.[6]
  • It is important to note that serotonin signalling pathway is altered by the effect of nicotine, which can relate maternal smoking and the development of sudden infant death syndrome (SIDS).[7]
  • New studies have shown that the underdevelopment or abnormal alterations of arcuate nucleus in the sudden infant death syndrome (SIDS) patients.[8][9]

Genetics

  • The exact involvement of genetic changes is not clear in the pathogenesis of Sudden infant death syndrome (SIDS)[10]
  • With the recent research we can say that Sudden infant death syndrome (SIDS) is not a genetic disorder but identification of genetic polymorphisms along with the risk factors increase the risk of developing susceptibility to Sudden infant death syndrome (SIDS)[11]
  • Such genetic polymorphisms along with the risk factors in the following genes plays a very crucial role in developing Sudden infant death syndrome (SIDS):[12][13][14][15][16][17]
    • SCN5A gene (Sodium Voltage-Gated Channel Alpha Subunit 5)
      • SCN5A gene encodes for ion channels on heart
    • SCN4A gene (Sodium Voltage-Gated Channel Alpha Subunit 4)
      • SCN4A gene encodes for ion channels on skeletal muscles
    • KCNQ1 gene (Potassium Voltage-Gated Channel Subfamily Q Member 1)
      • KCNQ1 gene encodes for functional potassium channels on heart and inner ear.
    • KCNJ8 gene (Potassium Inwardly Rectifying Channel Subfamily J Member 8)
      • KCNJ8 gene encodes for Kir6.1 protein and plays an very important role in cardiac repolarization.
    • KCNH2 gene (Potassium Voltage-Gated Channel Subfamily H Member 2)
      • KCNH2 gene encodes for voltage-Gated Potassium Channel Subunit Kv11.1
    • RYR2 (Ryanodine receptor 2)
      • Ryanodine receptor 2 (RyR2) encodes for Ca2+ release channel.
    • Serotonin transporter gene
      • Plays a very crucial role in serotonergic and noradrenergic transmission
    • Monoamine oxidase A (MAOA) gene
      • Plays a very crucial role in serotonergic and noradrenergic transmission
    • Interleukin-10 promoter gene[18][19]
      • Interleukin-10 promoter gene encodes for Interleukin-10 anti-inflammatory cytokine
    • Testis-specific Y-like gene[20]
      • Testis-specific Y-like gene polymorphism results in loss of sexual differentiation and brainstem-mediated sudden death
    • Heat shock proteins gene[21]
      • Polymorphism in heat shock proteins gene results in mutated hsp70 and hsp90.

Cardiac dysfunction

  • According to some new studies the following cardiac alterations are found in SIDS patients :[22][23][24]
    • Increase in heart rate (sinus tachycardia) which results in SIDS
    • Long QT intervals on ECG

Triggers

Prone position

  • The exact pathogenesis of prone position and the development of sudden infant death syndrome (SIDS) is not completely understood.
  • According to some new studies infant being in prone position increases the risk of infant to the following:
    • Suffocation of the baby
    • Decrease in arousal of the baby
    • Overheating of the baby

Gross Pathology

  • On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
    • Numerous petechiae within the thymus and epicardium and plural visceral surfaces is a very distinctive feature of SIDS.
    • Beckwith’s sign[25]
    • Edematous and congested lungs on gross examination.


Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

References

  1. ↑ Schechtman VL, Lee MY, Wilson AJ, Harper RM (1996). "Dynamics of respiratory patterning in normal infants and infants who subsequently died of the sudden infant death syndrome". Pediatr Res. 40 (4): 571–7. doi:10.1203/00006450-199610000-00010. PMID 8888285.
  2. ↑ Edlow BL, McNab JA, Witzel T, Kinney HC (2016). "The Structural Connectome of the Human Central Homeostatic Network". Brain Connect. 6 (3): 187–200. doi:10.1089/brain.2015.0378. PMC 4827322. PMID 26530629.
  3. ↑ Duncan JR, Paterson DS, Hoffman JM, Mokler DJ, Borenstein NS, Belliveau RA; et al. (2010). "Brainstem serotonergic deficiency in sudden infant death syndrome". JAMA. 303 (5): 430–7. doi:10.1001/jama.2010.45. PMC 3242415. PMID 20124538.
  4. ↑ Machaalani R, Say M, Waters KA (2009). "Serotoninergic receptor 1A in the sudden infant death syndrome brainstem medulla and associations with clinical risk factors". Acta Neuropathol. 117 (3): 257–65. doi:10.1007/s00401-008-0468-x. PMID 19052756.
  5. ↑ Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R; et al. (2006). "Multiple serotonergic brainstem abnormalities in sudden infant death syndrome". JAMA. 296 (17): 2124–32. doi:10.1001/jama.296.17.2124. PMID 17077377.
  6. ↑ Panigrahy A, Filiano J, Sleeper LA, Mandell F, Valdes-Dapena M, Krous HF; et al. (2000). "Decreased serotonergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome". J Neuropathol Exp Neurol. 59 (5): 377–84. doi:10.1093/jnen/59.5.377. PMID 10888367.
  7. ↑ Kinney HC, Randall LL, Sleeper LA, Willinger M, Belliveau RA, Zec N; et al. (2003). "Serotonergic brainstem abnormalities in Northern Plains Indians with the sudden infant death syndrome". J Neuropathol Exp Neurol. 62 (11): 1178–91. doi:10.1093/jnen/62.11.1178. PMID 14656075.
  8. ↑ Filiano JJ, Kinney HC (1992). "Arcuate nucleus hypoplasia in the sudden infant death syndrome". J Neuropathol Exp Neurol. 51 (4): 394–403. doi:10.1097/00005072-199207000-00002. PMID 1619439.
  9. ↑ Biondo B, Lavezzi A, Tosi D, Turconi P, Matturri L (2003). "Delayed neuronal maturation of the medullary arcuate nucleus in sudden infant death syndrome". Acta Neuropathol. 106 (6): 545–51. doi:10.1007/s00401-003-0757-3. PMID 13680277.
  10. ↑ Malloy MH, Freeman DH (1999). "Sudden infant death syndrome among twins". Arch Pediatr Adolesc Med. 153 (7): 736–40. doi:10.1001/archpedi.153.7.736. PMID 10401808.
  11. ↑ Platt MJ, Pharoah PO (2003). "The epidemiology of sudden infant death syndrome". Arch Dis Child. 88 (1): 27–9. doi:10.1136/adc.88.1.27. PMC 1719293. PMID 12495955.
  12. ↑ Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M; et al. (2007). "Cardiac sodium channel dysfunction in sudden infant death syndrome". Circulation. 115 (3): 368–76. doi:10.1161/CIRCULATIONAHA.106.646513. PMID 17210841.
  13. ↑ Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C; et al. (2007). "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome". Circulation. 115 (3): 361–7. doi:10.1161/CIRCULATIONAHA.106.658021. PMID 17210839.
  14. ↑ Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC; et al. (2007). "Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome". Circulation. 116 (20): 2253–9. doi:10.1161/CIRCULATIONAHA.107.704627. PMC 3332545. PMID 17967976.
  15. ↑ Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A; et al. (2010). "Sudden infant death syndrome-associated mutations in the sodium channel beta subunits". Heart Rhythm. 7 (6): 771–8. doi:10.1016/j.hrthm.2010.01.032. PMC 2909680. PMID 20226894.
  16. ↑ Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R; et al. (2008). "Cardiac ion channel gene mutations in sudden infant death syndrome". Pediatr Res. 64 (5): 482–7. doi:10.1203/PDR.0b013e3181841eca. PMID 18596570.
  17. ↑ Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR; et al. (2018). "Cardiac Genetic Predisposition in Sudden Infant Death Syndrome". J Am Coll Cardiol. 71 (11): 1217–1227. doi:10.1016/j.jacc.2018.01.030. PMID 29544605.
  18. ↑ Summers AM, Summers CW, Drucker DB, Hajeer AH, Barson A, Hutchinson IV (2000). "Association of IL-10 genotype with sudden infant death syndrome". Hum Immunol. 61 (12): 1270–3. doi:10.1016/s0198-8859(00)00183-x. PMID 11163082.
  19. ↑ Opdal SH, Opstad A, Vege A, Rognum TO (2003). "IL-10 gene polymorphisms are associated with infectious cause of sudden infant death". Hum Immunol. 64 (12): 1183–9. doi:10.1016/j.humimm.2003.08.359. PMID 14630401.
  20. ↑ Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR; et al. (2004). "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function". Proc Natl Acad Sci U S A. 101 (32): 11689–94. doi:10.1073/pnas.0401194101. PMC 511011. PMID 15273283.
  21. ↑ Rahim RA, Boyd PA, Ainslie Patrick WJ, Burdon RH (1996). "Human heat shock protein gene polymorphisms and sudden infant death syndrome". Arch Dis Child. 75 (5): 451–2. doi:10.1136/adc.75.5.451. PMC 1511788. PMID 8957963.
  22. ↑ Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R; et al. (1998). "Prolongation of the QT interval and the sudden infant death syndrome". N Engl J Med. 338 (24): 1709–14. doi:10.1056/NEJM199806113382401. PMID 9624190.
  23. ↑ Southall DP, Stevens V, Franks CI, Newcombe RG, Shinebourne EA, Wilson AJ (1988). "Sinus tachycardia in term infants preceding sudden infant death". Eur J Pediatr. 147 (1): 74–8. doi:10.1007/bf00442617. PMID 3338482.
  24. ↑ Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW; et al. (2006). "A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y". J Clin Invest. 116 (2): 430–5. doi:10.1172/JCI25618. PMC 1359045. PMID 16453024.
  25. ↑ Byard, Roger W. (2010). doi:10.1017/CBO9780511777783. Missing or empty |title= (help)

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