Uncovering Diaphragm Cramp in SIDS and Other Sudden Unexpected Deaths

Gebien, Dov Jordan; Eisenhut , Michael

Uncovering Diaphragm Cramp in SIDS and Other Sudden Unexpected Deaths

Authors

Gebien, Dov Jordan

Eisenhut , Michael

Issue Date

2024

Type

Scientific Paper

Keywords

Research Subject Categories::MEDICINE::Dermatology and venerology,clinical genetics, internal medicine::Internal medicine::Paediatric medicine

Abstract

Abstract The diaphragm is the primary muscle of respiration. Here, we disclose a fascinating patient's perspective that led, by clinical reasoning alone, to a novel mechanism of spontaneous respiratory arrests termed diaphragm cramp-contracture (DCC). Although the 7-year-old boy survived its paroxysmal nocturnal "bearhug pain apnea" episodes, essentially by breathing out to breathe in, DCC could cause sudden unexpected deaths in children, especially infants. Diaphragm fatigue is central to the DCC hypothesis in SIDS. Most, if not all, SIDS risk factors contribute to it, such as male sex, young infancy, rebreathing, nicotine, overheating and viral infections. A workload surge by a roll to prone position or REM-sleep inactivation of airway dilator or respiratory accessory muscles can trigger pathological diaphragm excitation (e.g., spasms, flutter, cramp). Electromyography studies in preterm infants already show that diaphragm fatigue and sudden temporary failure by transient spasms induce apneas, hypopneas and forced expirations, all leading to hypoxemic episodes. By extension, prolonged spasm as a diaphragm cramp would induce sustained apnea with severe hypoxemia and cardiac arrest if not quickly aborted. This would cause a sudden, rapid, silent death consistent with SIDS. Moreover, a unique airway obstruction could develop where the hypercontracted diaphragm resists terminal inspiratory efforts by the accessory muscles. It would disappear postmortem. SIDS autopsy evidence consistent with DCC includes disrupted myofibers and contraction band necrosis as well as signs of agonal breathing from obstruction. Screening for diaphragm injury from hypoxemia, hyperthermia, viral myositis and excitation include serum CK-MM and skeletal troponin-I. Active excitation could be visualized on ultrasound or fluoroscopy and monitored by respiratory inductive plethysmography or electromyography. Keywords: DCC; SIDS; apnea; contraction band necrosis; diaphragm cramp; diaphragm fatigue; diaphragm spasm; myopathy; respiratory arrest; sudden unexpected deaths. PubMed Disclaimer Conflict of interest statement The authors declare no conflicts of interest. Figures Figure 1 Figure 1 Muscles of respiration. The primary… Figure 2 Figure 2 Respiratory load compensation, REM sleep… Figure 3 Figure 3 Spectrum of diaphragm hyperexcitation disorders… Figure 4 Figure 4 Criteria for fatal respiratory arrests… Figure 5 Figure 5 Prolonged expiratory apnea in an… Figure 6 Figure 6 Partial Sleep polysomnograph demonstrating air… All figures (17) Similar articles A controlled study of the relationship between Bordetella pertussis infections and sudden unexpected deaths among German infants. Heininger U, Kleemann WJ, Cherry JD; Sudden Infant Death Syndrome Study Group. Pediatrics. 2004 Jul;114(1):e9-15. doi: 10.1542/peds.114.1.e9. PMID: 15231967 Critical diaphragm failure in sudden infant death syndrome. Siren PM, Siren MJ. Ups J Med Sci. 2011 May;116(2):115-23. doi: 10.3109/03009734.2010.548011. Epub 2011 Jan 12. PMID: 21222555 Free PMC article. SIDS-CDF Hypothesis Revisited: Cause vs. Contributing Factors. Siren PM. Front Neurol. 2017 Jan 16;7:244. doi: 10.3389/fneur.2016.00244. eCollection 2016. PMID: 28138321 Free PMC article. Neonatal Monitoring: Prediction of Autonomic Regulation at 1 Month from Newborn Assessments. Myers MM, Burtchen N, Retamar MO, Lucchini M, Fifer WP. In: Duncan JR, Byard RW, editors. SIDS Sudden Infant and Early Childhood Death: The Past, the Present and the Future. Adelaide (AU): University of Adelaide Press; 2018 May. Chapter 21. PMID: 30035942 Free Books & Documents. Review. Sleep apnea in mice: a useful animal model for study of SIDS? Nakamura A, Kuwaki T. Early Hum Dev. 2003 Dec;75 Suppl:S167-74. doi: 10.1016/j.earlhumdev.2003.08.019. PMID: 14693402 Review. See all similar articles References Gebien D.J., Eisenhut M. Diaphragmatic Cramp-Like Contracture (DCC)—A Novel Terminal Mechanism in Sudden Unexpected Deaths of All Ages. ResearchGate. 2023. [(accessed on 9 August 2024)]. Available online: https://tinyurl.com/diaphragm-cramp. Jolley S.G., Halpern L.M., Tunell W.P., Johnson D.G., Sterling C.E. The risk of sudden infant death from gastroesophageal reflux. J. Pediatr. Surg. 1991;26:1941459. doi: 10.1016/0022-3468(91)90012-I. - DOI - PubMed Poets C.F., Meny R.G., Chobanian M.R., Bonofiglo R.E. Gasping and other cardiorespiratory patterns during sudden infant deaths. Pediatr. Res. 1999;45:350–354. doi: 10.1203/00006450-199903000-00010. - DOI - PubMed Lopes J.M., Muller N.L., Bryan M.H., Bryan A.C. Synergistic behavior of inspiratory muscles after diaphragmatic fatigue in the newborn. J. Appl. Physiol. Respir. Environ. Exerc. Physiol. 1981;51:547–551. doi: 10.1152/jappl.1981.51.3.547. - DOI - PubMed Knill R., Andrews W., Bryan A.C., Bryan M.H. Respiratory load compensation in infants. J. Appl. Physiol. 1976;40:357–361. doi: 10.1152/jappl.1976.40.3.357. - DOI - PubMed Show all 199 references Related information MedGen Grants and funding This research received no external funding. LinkOut - more resources Full Text Sources MDPI PubMed Central Research Materials NCI CPTC Antibody Characterization Program Miscellaneous NCI CPTAC Assay Portal

Citation

Gebien DJ, Eisenhut M. Uncovering Diaphragm Cramp in SIDS and Other Sudden Unexpected Deaths. Diagnostics (Basel). 2024 Oct 18;14(20):2324. doi: 10.3390/diagnostics14202324. PMID: 39451647; PMCID: PMC11506607.