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

06:00 EDT 14th August 2010 | BioPortfolio

Summary of "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.


Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER, Santiago de Compostela, Spain; Genetics of Cardiovascular and Ophthalmologic Diseases, Complexo Hospitalario Universitario de Santiago (CHU

Journal Details

This article was published in the following journal.

Name: Forensic science international
ISSN: 1872-6283


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Medical and Biotech [MESH] Definitions

Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)

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A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation.

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