Document Details

Document Type : Article In Journal 
Document Title :
Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood
Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood
 
Document Language : English 
Abstract : OBJECTIVES: Sudden unexplained death in children is a tragic and traumatic event, often worsened when the cause of death cannot be determined. This work aimed to investigate the presence of putative pathogenic genetic variants in a broad spectrum of cardiomyopathy, channelopathy and aortic disease associated genes that may have increased these children's vulnerability to sudden cardiac death. DESIGN: We performed molecular autopsy of 41 cases of sudden unexplained death in infants and children through massive parallel sequencing of up to 86 sudden cardiac death-related genes. Multiple in silico analyses were conducted together with a thorough review of the literature in order to prioritise the putative pathogenic variants. RESULTS: A total of 63 variants in 35 cases were validated. The largest proportion of these variants is located within cardiomyopathy genes although this would have been more expected of channelopathy gene variants. Subtle microscopic features of heart tissue may indicate the presence of an early onset cardiomyopathy as a predisposing condition to sudden unexpected death in some individuals. CONCLUSIONS: Next-generation sequencing technologies reveal the existence of a wide spectrum of rare and novel genetic variants in sarcomere genes, compared with that of cardiac ion channels, in sudden unexplained death in infants and children. Our findings encourage further investigation of the role of early onset inherited cardiomyopathies and other diseases involving myocardial dysfunction in these deaths. Early detection of variants in these individuals could help to unmask subtle forms of disease within their relatives, who would eventually benefit from better counselling about their genetic history. 
ISSN : 1468-2044 
Journal Name : Archives of disease in childhood 
Volume : 1 
Issue Number : 1 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Thursday, April 28, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Montserrat SantoriSantori, Montserrat Investigator  
Alejandro Blanco-VereaBlanco-Verea, Alejandro Researcher  
Rocio GilGil, Rocio Researcher  
Judith CortisCortis, Judith Researcher  
Katrin BeckerBecker, Katrin Researcher  
Peter M SchneiderSchneider, Peter MResearcher  
Angel CarracedoCarracedo, Angel Researcher  
Maria BrionBrion, Maria Researcher  

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