Sudden death of an infant with cardiac, nervous system and genetic involvement--a case report.
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.
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788.
"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. anna.lavezzi@unimi.it.
Donatella
D
Mecchia
Valentina
V
Casale
Roberta
R
Oneda
Luigi
L
Matturri
Anna Maria
AM
Lavezzi
D000015:Abnormalities, Multiple; D058606:Accessory Atrioventricular Bundle / Q000473:pathology; D001341:Autonomic Nervous System / Q000002:abnormalities* / Q000473:pathology; D001344:Autopsy; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics* / Q000473:pathology*; D005355:Fibrosis; D020022:Genetic Predisposition to Disease; D006329:Heart Conduction System / Q000002:abnormalities* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D011903:Raphe Nuclei / Q000002:abnormalities* / Q000473:pathology; D012307:Risk Factors; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics* / Q000473:pathology*
C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins