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Open Access Highly Accessed Case Report

Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report

Donatella Mecchia, Valentina Casale, Roberta Oneda, Luigi Matturri and Anna Maria Lavezzi*

Author Affiliations

“Lino Rossi” Research Center for the study and prevention of unexpected perinatal death and SIDS - Department of Biomedical, Surgical and Dental Sciences, University of Milan, Via della Commenda 19, Milan 20122, Italy

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Diagnostic Pathology 2013, 8:159  doi:10.1186/1746-1596-8-159

Published: 20 September 2013

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.

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Keywords:
SIDS; Hypertrophic cardiomyopathy; Mahaim fiber; Raphe system; Serotonin transporter gene polymorphism