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Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report
ABSTRACT: 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 o...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852348/ https://www.ncbi.nlm.nih.gov/pubmed/24053176 http://dx.doi.org/10.1186/1746-1596-8-159 |
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author | Mecchia, Donatella Casale, Valentina Oneda, Roberta Matturri, Luigi Lavezzi, Anna Maria |
author_facet | Mecchia, Donatella Casale, Valentina Oneda, Roberta Matturri, Luigi Lavezzi, Anna Maria |
author_sort | Mecchia, Donatella |
collection | PubMed |
description | ABSTRACT: 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. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788 |
format | Online Article Text |
id | pubmed-3852348 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-38523482013-12-06 Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report Mecchia, Donatella Casale, Valentina Oneda, Roberta Matturri, Luigi Lavezzi, Anna Maria Diagn Pathol Case Report ABSTRACT: 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. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788 BioMed Central 2013-09-20 /pmc/articles/PMC3852348/ /pubmed/24053176 http://dx.doi.org/10.1186/1746-1596-8-159 Text en Copyright © 2013 Mecchia et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Mecchia, Donatella Casale, Valentina Oneda, Roberta Matturri, Luigi Lavezzi, Anna Maria Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
title | Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
title_full | Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
title_fullStr | Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
title_full_unstemmed | Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
title_short | Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
title_sort | sudden death of an infant with cardiac, nervous system and genetic involvement – a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852348/ https://www.ncbi.nlm.nih.gov/pubmed/24053176 http://dx.doi.org/10.1186/1746-1596-8-159 |
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