{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:09:46Z","timestamp":1788282586961,"version":"build-2803163510"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T00:00:00Z","timestamp":1379635200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Diagn Pathol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Abstract<\/jats:title>\n            <jats:p>We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement. Previously considered quite healthy, the child died suddenly and unexpectedly during sleep. The autopsy protocol included an in-depth anatomopathological examination of both the autonomic nervous system and the cardiac conduction system, and molecular analysis of the serotonin transporter gene promoter region, in which a specific genetic condition seems to be associated with sudden infant death. Histological examination revealed the presence of congenital cardiac alterations (hypertrophic cardiomyopathy and an accessory Mahaim fiber in the cardiac conduction system), severe hypodevelopment of all the raphe nuclei and a heterozygous genotype L\/S related to the serotonin transporter gene. The sudden death of this infant was the unavoidable outcome of a complex series of congenital anomalies, each predisposing to SIDS.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Virtual slides<\/jats:title>\n            <jats:p>The virtual slide(s) for this article can be found here: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.diagnosticpathology.diagnomx.eu\/vs\/3480540091031788\" ext-link-type=\"uri\">http:\/\/www.diagnosticpathology.diagnomx.eu\/vs\/3480540091031788<\/jats:ext-link>\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1746-1596-8-159","type":"journal-article","created":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T17:01:06Z","timestamp":1379696466000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Sudden death of an infant with cardiac, nervous system and genetic involvement \u2013 a case report"],"prefix":"10.1186","volume":"8","author":[{"given":"Donatella","family":"Mecchia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Casale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Oneda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Matturri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Lavezzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,9,20]]},"reference":[{"key":"879_CR1","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1542\/peds.114.1.234","volume":"114","author":"HF Krou","year":"2004","unstructured":"Krou HF, Beckwit JB, Byard RW, Rognum TO, Bajanowski T, Corey T, et al.: Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics. 2004, 114: 234-238. 10.1542\/peds.114.1.234.","journal-title":"Pediatrics"},{"key":"879_CR2","doi-asserted-by":"publisher","first-page":"1578","DOI":"10.1016\/S0140-6736(07)61662-6","volume":"370","author":"RY Moon","year":"2007","unstructured":"Moon RY, Horne RS, Hauck FR: Sudden infant death syndrome. Lancet. 2007, 370: 1578-1587. 10.1016\/S0140-6736(07)61662-6.","journal-title":"Lancet"},{"key":"879_CR3","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1136\/adc.2002.025486","volume":"89","author":"T Matthews","year":"2004","unstructured":"Matthews T, McDonnell M, McGarvey C, Loftus G, O\u2019Regan M: A multivariate time based analysis of SIDS risk factors. Arch Dis Child. 2004, 89: 267-271. 10.1136\/adc.2002.025486.","journal-title":"Arch Dis Child"},{"key":"879_CR4","volume-title":"Proceedings of the 3rd Annual ISA Conference on Perinatal Loss: Improving Care and Prevention:","author":"W Duke","year":"2007","unstructured":"Duke W: Postmortems in the identification of congenital anomalies. Proceedings of the 3rd Annual ISA Conference on Perinatal Loss: Improving Care and Prevention:. 2007, Birmingham, UK"},{"key":"879_CR5","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1542\/peds.2011-1037","volume":"128","author":"WD Barfield","year":"2011","unstructured":"Barfield WD, Committee on Fetus and Newborn: Standard terminology for fetal, infant, and perinatal deaths. Pediatrics. 2011, 128: 177-181. 10.1542\/peds.2011-1037.","journal-title":"Pediatrics"},{"key":"879_CR6","first-page":"207","volume-title":"Sudden infant death syndrome","author":"L Rossi","year":"1995","unstructured":"Rossi L, Matturri L: Anatomohistologic features of the heart\u2019s conduction system and innervation in SIDS. Sudden infant death syndrome. Edited by: Rognum TO. 1995, Oslo: New trends in the nineties, Scandinavian University Press, 207-212."},{"key":"879_CR7","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/j.earlhumdev.2010.12.009","volume":"87","author":"L Matturri","year":"2011","unstructured":"Matturri L, Lavezzi AM: Unexplained stillbirth versus SIDS: common congenital diseases of the autonomic nervous system - pathology and nosology. Early Hum Dev. 2011, 87: 209-215. 10.1016\/j.earlhumdev.2010.12.009.","journal-title":"Early Hum Dev"},{"key":"879_CR8","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/S1054-8807(00)00035-1","volume":"9","author":"L Matturri","year":"2000","unstructured":"Matturri L, Ottaviani G, Ramos SG, Rossi L: Sudden infant death syndrome (SIDS): a study of cardiac conduction system. Cardiovasc Pathol. 2000, 9: 137-145. 10.1016\/S1054-8807(00)00035-1.","journal-title":"Cardiovasc Pathol"},{"key":"879_CR9","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1002\/ajmg.a.20005","volume":"117A","author":"DE Weese-Mayer","year":"2003","unstructured":"Weese-Mayer DE, Berry-Kravis EM, Maher BS, et al.: Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet A. 2003, 117A: 268-274. 10.1002\/ajmg.a.20005.","journal-title":"Am J Med Genet A"},{"key":"879_CR10","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1007\/s00428-007-0527-z","volume":"452","author":"L Matturri","year":"2008","unstructured":"Matturri L, Ottaviani G, Lavezzi AM: Guidelines for neuropathologic diagnostics of perinatal unexpected loss and sudden infant death syndrome (SIDS). A technical protocol. Virchows Arch. 2008, 452: 19-25. 10.1007\/s00428-007-0527-z.","journal-title":"Virchows Arch"},{"key":"879_CR11","doi-asserted-by":"publisher","first-page":"2621","DOI":"10.1046\/j.1471-4159.1996.66062621.x","volume":"66","author":"A Heils","year":"1996","unstructured":"Heils A, Teufel A, Petri S, et al.: Allelic variation of human serotonin transporter gene expression. J Neurochem. 1996, 66: 2621-2624.","journal-title":"J Neurochem"},{"key":"879_CR12","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1186\/1746-1596-7-182","volume":"7","author":"H Kotani","year":"2012","unstructured":"Kotani H, Miyao M, Manabe S, Ishida T, Kawai C, Abiru H, Tamaki K: Relationship of red splenic arteriolar hyaline with rapid death: a clinicopathological study of 82 autopsy cases. Diagn Pathol. 2012, 7: 182-10.1186\/1746-1596-7-182.","journal-title":"Diagn Pathol"},{"key":"879_CR13","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1186\/1746-1596-7-169","volume":"7","author":"M Neri","year":"2012","unstructured":"Neri M, Di Donato S, Maglietta R, Pomara C, Riezzo I, Turillazzi E, Fineschi V: Sudden death as presenting symptom caused by cardiac primary multicentric left ventricle rhabdomyoma, in an 11-month-old baby. An immunohistochemical study. Diagn Pathol. 2012, 7: 169-10.1186\/1746-1596-7-169.","journal-title":"Diagn Pathol"},{"key":"879_CR14","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1186\/1746-1596-7-144","volume":"7","author":"E Turillazzi","year":"2012","unstructured":"Turillazzi E, Bello S, Neri M, Riezzo I, Fineschi V: Colloid cyst of the third ventricle, hypothalamus, and heart: a dangerous link for sudden death. Diagn Pathol. 2012, 7: 144-10.1186\/1746-1596-7-144.","journal-title":"Diagn Pathol"},{"key":"879_CR15","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1186\/1746-1596-7-67","volume":"7","author":"J Wei","year":"2012","unstructured":"Wei J, Tang J, Xia L, Chen X, Wang DW: A case of arrhythmogenic right ventricular cardiomyopathy without arrhythmias. Diagn Pathol. 2012, 7: 67-10.1186\/1746-1596-7-67.","journal-title":"Diagn Pathol"},{"key":"879_CR16","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1080\/14767050802406677","volume":"22","author":"MA Weber","year":"2009","unstructured":"Weber MA, Ashworth MT, Risdon RA, Brooke I, Malone M, Sebire NJ: Sudden unexpected neonatal death in the first week of life: autopsy findings from a specialist centre. J Matern Fetal Neonatal Med. 2009, 22: 398-404. 10.1080\/14767050802406677.","journal-title":"J Matern Fetal Neonatal Med"},{"key":"879_CR17","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1203\/PDR.0b013e3181a7bb73","volume":"66","author":"AM Lavezzi","year":"2009","unstructured":"Lavezzi AM, Casale V, Oneda R, Weese-Mayer DW, Matturri L: Sudden infant death syndrome and sudden intrauterine unexplained death: correlation between hypoplasia of raphe nuclei and serotonin transporter gene promoter polymorphism. Ped Res. 2009, 66: 22-27. 10.1203\/PDR.0b013e3181a7bb73.","journal-title":"Ped Res"},{"key":"879_CR18","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/S0361-9230(01)00614-1","volume":"56","author":"EC Azmitia","year":"2001","unstructured":"Azmitia EC: Modern views on an ancient chemical: serotonin effects on cell proliferation, maturation, and apoptosis. Brain Res Bull. 2001, 56: 413-424. 10.1016\/S0361-9230(01)00614-1.","journal-title":"Brain Res Bull"},{"key":"879_CR19","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1038\/nrn1409","volume":"5","author":"GB Richerson","year":"2004","unstructured":"Richerson GB: Serotonergic neurons as carbon dioxide sensors that maintain pH homeostasis. Nat Rev Neurosci. 2004, 5: 449-461. 10.1038\/nrn1409.","journal-title":"Nat Rev Neurosci"},{"key":"879_CR20","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/S0014-2999(00)00925-0","volume":"411","author":"K Muneoka","year":"2001","unstructured":"Muneoka K, Ogawa T, Kamei K, Mimura Y, Kato H, Takigawa M: Nicotine exposure during pregnancy is a factor which influences serotonin transporter density in the rat brain. Eur J Pharmacol. 2001, 411: 279-282. 10.1016\/S0014-2999(00)00925-0.","journal-title":"Eur J Pharmacol"},{"key":"879_CR21","doi-asserted-by":"publisher","first-page":"4347","DOI":"10.1136\/bmj.b4347","volume":"339","author":"D Shipton","year":"2009","unstructured":"Shipton D, Tappin DM, Vadiveloo T, Crossley JA, Aitken DA, Chalmers J: Reliability of self reported smoking status by pregnant women for estimating smoking prevalence: a retrospective, cross sectional study. BMJ. 2009, 339: 4347-4354. 10.1136\/bmj.b4347.","journal-title":"BMJ"},{"key":"879_CR22","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.1056\/NEJMra0902923","volume":"364","author":"H Watkins","year":"2011","unstructured":"Watkins H, Ashrafian H, Redwood C: Inherited cardiomyopathies. N Engl J Med. 2011, 364: 1643-1656. 10.1056\/NEJMra0902923.","journal-title":"N Engl J Med"},{"key":"879_CR23","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.fsigss.2009.09.040","volume":"2","author":"M Brion","year":"2009","unstructured":"Brion M, Allegue C, Gil R, Torres M, Santori M, Poster S, Madea B, Carracedo A: Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS). Forensic Sci Int Genet. 2009, 2: 495-496. 10.1016\/j.fsigss.2009.09.040.","journal-title":"Forensic Sci Int Genet"}],"container-title":["Diagnostic Pathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1746-1596-8-159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1746-1596-8-159\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1746-1596-8-159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T01:45:40Z","timestamp":1630547140000},"score":1,"resource":{"primary":{"URL":"https:\/\/diagnosticpathology.biomedcentral.com\/articles\/10.1186\/1746-1596-8-159"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,20]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["879"],"URL":"https:\/\/doi.org\/10.1186\/1746-1596-8-159","relation":{},"ISSN":["1746-1596"],"issn-type":[{"value":"1746-1596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,20]]},"assertion":[{"value":"11 July 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 September 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"159"}}