New technologies in the genetic approach to sudden cardiac death

Forensic Sci. Int. · Dec 2010

Review

New technologies in the genetic approach to sudden cardiac death in the young.

Sudden cardiac death (SCD) is a major health problem and constitutes one of the most important unsolved challenges in the practice of forensic pathology due to the failure to determine the cause of death. Particularly, an important number of previously healthy young people who have died suddenly and unexpectedly are consequence of genetic heart disorders, either structural cardiomyopathies or arrhythmogenic abnormalities. The technological approach to analyze this type of genetically heterogeneous disorders is far from easy but nowadays the variety of chemistries and methodologies improves choice. This review offers to the reader a state of the art of the available technologies for the study of genetics of sudden cardiac death, including mutation screening approaches, genome wide association studies, and the recently developed next-generation sequencing.

explore further… or not…
- M Brion, I Quintela, B Sobrino, M Torres, C Allegue, and A Carracedo.
- Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER, Santiago de Compostela, Spain. maria.brion@usc.es
- Forensic Sci. Int. 2010 Dec 15; 203 (1-3): 15-24.
AbstractSudden cardiac death (SCD) is a major health problem and constitutes one of the most important unsolved challenges in the practice of forensic pathology due to the failure to determine the cause of death. Particularly, an important number of previously healthy young people who have died suddenly and unexpectedly are consequence of genetic heart disorders, either structural cardiomyopathies or arrhythmogenic abnormalities. The technological approach to analyze this type of genetically heterogeneous disorders is far from easy but nowadays the variety of chemistries and methodologies improves choice. This review offers to the reader a state of the art of the available technologies for the study of genetics of sudden cardiac death, including mutation screening approaches, genome wide association studies, and the recently developed next-generation sequencing.Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Pubmed Full text Copy Citation Plaintext

Add institutional full text...
Notes
Knowledge, pearl, summary or comment to share?

300 characters remaining

help

You can also include formatting, links, images and footnotes in your notes

Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.

Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.

Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.

Links can be included with: [my link to pubmed](http://pubmed.com)

Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")

For footnotes use [^1](This is a footnote.) inline.

Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..
hide…

New technologies in the genetic approach to sudden cardiac death in the young.

Notes

300 characters remaining

help

You can also include formatting, links, images and footnotes in your notes

What will the 'Medical Journal of You' look like?

Start your free 21 day trial now.