Genetic causes of sudden infant death syndrome in the era of next generation sequencing.

Česká verzia

Authors: K. Rücklová ^1,2; L. Piherová ²; P. Kubuš ³
Authors place of work: Klinika dětí a dorostu 3. LF UK a FN Královské Vinohrady, Praha ¹; Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha ²; Dětské kardiocentrum 2. LF UK a FN Motol, Praha ³
Published in the journal: Čes-slov Pediat 2020; 75 (1): 20-26.
Category:

Summary

Sudden infant death syndrome is defined as sudden and unexpected death of an infant that remains unexplained after thorough investigation of the scene of death, medical history and autopsy. Although a common final pathogenic pathway of these deaths is assumed, even recent studies based on next generation sequencing failed to reveal a single genetic cause. Predominant role of a pathogenic variant in one of the candidate genes may be traced in approximately 10% of these infants. The candidate genes include genes encoding ion channels in the heart that lead to inherited primary arrhythmia syndromes (cardiac channelopathies), for example long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Their inheritance is mostly autosomal dominant with an increased risk of the disease associated with sudden death for first-degree relatives. Therefore a thorough cardiological examination of first-degree relatives and post-mortem molecular testing of the cardiac channelopathies are recommended. Other candidate genes include genes for sodium channels in the respiratory skeletal muscles and brain or genes encoding mineralocorticoid receptor or enzymes involved in adrenal steroidogenesis. Results of post-mortem genetic testing, especially in cases of sudden infant death syndrome, must be interpreted with caution. Only strictly assessed pathogenic variants may be used for genetic counseling in the family, always in correlation with clinical findings.

Keywords:

next generation sequencing – sudden infant death syndrome – inherited primary arrhythmia syndromes – non-cardiac genetic predisposition

Zdroje

1. Krous HF, Beckwith JB, Byard RW, et al. Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics 2004; 114: 234–238.

2. Pinneri K, Matshes EW. Recommendations for the autopsy of an infant who has died suddenly and unexpectedly. Acad Forensic Pathol 2017; 7 (2): 171–181.

3. Ackerman MJ, Priori SG, Willemset S, et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 2011; 13 (8): 1077–109.

4. Richards S, Aziz N, Bale S, et al. Standards and guideliens for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015; 17 (5): 405–424.

5. Matějů E, Kováč P. Restrospektivní studie výskytu SIDS v ČR během období 1999–2004. Pediatr pro Praxi 2006; 2: 109–113.

6. Schwartz PJ, Priori SG, Dumaine R, et al. A molecular link between th esudden infant death syndrome and the long-QT syndrome. N Engl J Med 2000; 343 (4): 262–267.

7. Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001; 286: 2264–2269.

8. Neubauer J, Lecca MR, Russo G, et al. Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet 2017 Apr; 25 (4): 404–409.

9. Hertz CL, Christiansen SL, Larsen MK, et al. Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet 2016; 24: 817–822.

10. Paludan-Müller C, Ghouse J, Vad OB, et al. Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts. Eur J Hum Genet 2019 Sep; 27 (9): 1427–1435.

11. Tester DJ, Wong LCH, Chanana P, et al. Cardiac genetic predisposition in sudden infant death syndrome. J Am Coll Cardiol 2018; 71: 1217–1227.

12. Davis AM, Glegarry J, Skinner JR. Sudden infant death: QT or not QT? That is no langer a question. Circ Arrhythm Electrophysiol 2016; 9: e003859. doi: 10.1161/CIRCEP.115.003859.

13. Tester DJ, Wong LCH, Chanana P, et al. Exome-wide rare variant analyses in sudden infant death syndrome. J Pediatr 2018; 203: 423–428.

14. Attia NA, Marzouk YI. Pseudohypoaldosteronism in a neonate presenting as life-threatening hyperkalemia. Case Rep Endocrinol 2016; 2016: 684–697.

15. Kinney HC, Poduri AH,Cryan JB, et al. Hippocampal formation maldevelopment and sudden unexpected death across the pediatric age spectrum. J Neuropathol Exp Neurol 2016; 75: 981–997.

16. Lamothe SM, Zhang S. The serum- and glucocorticorticoid-inducible kinases SGK1 and SGK3 regulate hERG channel expression via ubiquitin ligase nedd4-2 and GTPase rab11. J Biol Chem 2013; 288 (21): 15075–15084.

17. Komuro J, Kaneko M, Ueda K, et al. Adrenal insufficiency causes life-threatening arrhythmia with prolongation of QT interval. Heart Vessels 2016; 31 (6): 1003–1005.

18. Gray B, Tester JD, Wong LCH, et al. Noncardiac genetic predisposition in sudden infant death syndrome. Genet Med 2019; 21: 641–649.

19. Männikkö R, Wong L, Tester DJ, et al. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden inafnt death syndrome: a case-control study. Lancet 2018; 391: 1483–1492.

20. Brownstein CA, Goldstein RD, Thompson CH, et al. SCN1A variants associated with sudden infant death syndrome. Epilepsia 2018; 59 (4): 56–62.

21. Bagnall RD, Crompton DE, Petrovski S, et al. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol 2016; 79: 522–534.

22. Baruteau AE, Tester DJ, Kapplinger JD, et al. Sudden infant death syndrome and inherited cardiac conditions. Nature reviews. Cardiology 2017; 14: 715–726.

23. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. The task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J 2015; 36: 2793–2867.

24. Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long QT syndrome. Circulation 2009; 120 (18): 1761–1767.

25. Schwartz PJ, Ackerman MJ. The long QT syndrome: A transatlantic clinical approach to diagnosis and therapy. Eur Heart J 2013; 34: 3109–3116.

26. Saul JP, Schwartz JP, Ackerman MJ, Triedman JK. Rationale and objectivesfor ECG screening in infancy. Heart Rhythm 2014; 11 (12): 2316–2321.

27. Yoshinaga M, Ushinohama H, Sato S, et al. Electrocardiographic screening of 1-month-old infants for identifying prolonged QT intervals. Circ Arrhythm Electrophysiol 2013; 6 (5): 932–938.

28. Quaglini S, Rognoni C, Spazzolini C, et al. Cost-effectiveness of neonatal ECG screening for the long QT syndrome. Eur Heart J 2006; 27 (15): 1824–1832.

29. Kinney HC, Thach BT. The sudden infant death syndrome. N Engl J Med 2009; 361 (8): 795–805.

30. Ackerman JP, Bartos DC, Kapplinger JD, et al. The promise and peril of precision medicine: phenotyping still matters most. Mayo Clin Proc 2016; 91: 1606–1616.