Cardiac channelopathies and the molecular autopsy

David J. Tester; Michael J. Ackerman

doi:10.1007/978-1-61779-403-2_34

Cardiac channelopathies and the molecular autopsy

David J. Tester, Michael J. Ackerman

Cardiovascular Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

2 Scopus citations

Abstract

This chapter reviews clinical and molecular observations for three potentially lethal arrhythmia syndromes: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. It summarizes the role of cardiac channelopathies in sudden infant death syndrome and sudden and unexpected infant deaths; illustrates the role of cardiological assessment of surviving family members and the role of a molecular autopsy in the evaluation of sudden unexplained death and unexplained drowning in the young; and discusses some of the important issues in performing a molecular autopsy, including the benefits of genetic testing, indications for molecular autopsy, the biological material to be used in a molecular autopsy, interpretation of genetic test results, and the legal and societal implications of the molecular autopsy.

Original language	English (US)
Title of host publication	Forensic Pathology of Infancy and Childhood
Publisher	Springer New York
Pages	899-942
Number of pages	44
ISBN (Electronic)	9781617794032
ISBN (Print)	1617794023, 9781617794025
DOIs	https://doi.org/10.1007/978-1-61779-403-2_34
State	Published - Mar 1 2014

ASJC Scopus subject areas

Medicine(all)

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10.1007/978-1-61779-403-2_34

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AB - This chapter reviews clinical and molecular observations for three potentially lethal arrhythmia syndromes: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. It summarizes the role of cardiac channelopathies in sudden infant death syndrome and sudden and unexpected infant deaths; illustrates the role of cardiological assessment of surviving family members and the role of a molecular autopsy in the evaluation of sudden unexplained death and unexplained drowning in the young; and discusses some of the important issues in performing a molecular autopsy, including the benefits of genetic testing, indications for molecular autopsy, the biological material to be used in a molecular autopsy, interpretation of genetic test results, and the legal and societal implications of the molecular autopsy.

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ER -

Cardiac channelopathies and the molecular autopsy

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