Introduction to Sudden Infant and Perinatal Unexplained Death

Ottaviani, Giulia

doi:10.1007/978-3-319-08347-6_1

Cited by 7 publications

(27 citation statements)

References 160 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Resorptive degeneration is a developmental process of moulding and shaping the AV junction that, if exaggerated, could provoke blocking disruption of the AV pathway, and, if defective, could leave in place accessory pathways between the AV pathway and the adjacent myocardium 86 87. Over the years, the validity of James' findings has been confirmed by many investigators, such as Ferris,88 Marino and Kane89 and the present authors 50 68. However, James’ cardiac hypothesis has been questioned by other investigators, such as Lie et al ,90 Davies et al 91 and Anderson,92 who found no association between resorptive degeneration and sudden infant death, as the process was equally present in the SIDS and control groups.…”

Section: Sudden Unexpected Infant and Perinatal Deathsupporting

confidence: 63%

“…Overall, the SIDS–SIUDS victims did not show abnormalities of the common myocardium, while the cardiac conduction system showed pathological findings in almost all cases, such as defective or exaggerated resorptive degeneration, AV dispersion or septation, accessory pathways, mainly Mahaim fibres, cartilaginous meta/hyperplasia of the central fibrous body, dualism of the AV junction, etc, as morphological substrates for potentially deadly arrhythmias 68 103 113 114. Genetic mutations underlying cardiac arrhythmias, including the long-QT syndrome, have been detected in no more than 10% of cases of SIDS 115 116.…”

Section: Sudden Unexpected Infant and Perinatal Deathmentioning

confidence: 94%

“…The detection of frequent congenital anomalies, similar in both SIDS and SIUDS victims, indicates a continuity between these two deadly forms, regarded as the SIDS–SIUDS complex 68 73 98–103 120 121. Overall, abnormalities of serotonergic neurotransmission in the caudal brainstem are the most consistent findings significant to the pathogenesis of SIDS, probably resulting in a reduced ability to respond appropriately to periods of cardiorespiratory stress or in reduced arousal 121…”

Section: Sudden Unexpected Infant and Perinatal Deathmentioning

confidence: 98%

“…The environmental risk factors can interact in complex ways with the genetic constitution, leading to polymorphisms and/or mutations of specific genes, such as polymorphisms in the serotonin transporter gene 5-HTT , the regulator of the synaptic serotonin concentration, and in the gene PHOX2B ; all play a key role in the congenital central hypoventilation syndrome 68 70…”

Section: Sudden Unexpected Infant and Perinatal Deathmentioning

confidence: 99%

“…In the same year, Matturri et al 98 reported the first anatomopathological evidence of similar brainstem findings in unexpected stillborn and SIDS victims. Since then, several additional anatomopathological findings in the autonomic nervous and cardiac conduction systems in both SIDS and SIUDS victims have been published 68 99–103…”

Section: Sudden Unexpected Infant and Perinatal Deathmentioning

confidence: 99%

See 4 more Smart Citations

Update on congenital heart disease and sudden infant/perinatal death: from history to future trends

Ottaviani

Buja

2017

J Clin Pathol

Self Cite

View full text Add to dashboard Cite

During the 20th century, expert pathologists contributed an in-depth characterisation of the anatomical pathology and associated pathophysiology of congenital heart disease (CHD). Starting in the 1970s, the reported CHD birth prevalence has been increasing, owing to advances in diagnostic methods. Over the years, surgical treatments have been associated with an enormous reduction of CHD mortality. Advances also have been made in understanding the developmental biology and molecular pathogenesis of CHD. In developed countries, sudden infant death syndrome (SIDS) is the most frequent form of death during the first year of life, with a death rate of 0.42 every 1000 births. Unexpected stillbirth has a six- to eightfold greater incidence than that of SIDS and remains unexplained in 40-80% of cases even after autopsy. Specific environmental risk factors, such as maternal smoking, air and water pollution, food contamination, pesticides, etc, can interact with the genetic constitution in complex ways, which may lead to polymorphisms and/or mutations of specific genes, such as polymorphisms in the serotonin transporter gene , the regulator of the synaptic serotonin concentration. Current directions of research in this area are reviewed.

show abstract