Diagnostic pathology · 2013
Sudden death of an infant with cardiac, nervous system and genetic involvement--a case report.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
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Mecchia Donatella, Casale Valentina, Oneda Roberta, Matturri Luigi, Lavezzi Anna Maria
Аннотация
UNLABELLED: 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.
VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788.
Предметные рубрики MeSH
Abnormalities, MultipleAccessory Atrioventricular BundleAutonomic Nervous SystemAutopsyCardiomyopathy, Hypertrophic, FamilialFibrosisGenetic Predisposition to DiseaseHeart Conduction SystemHeterozygoteHumansInfant, NewbornMaleMyocardiumPhenotypeRaphe NucleiRisk FactorsSerotonin Plasma Membrane Transport ProteinsSudden Infant Death