Postmortem Long QT Syndrome Genetic Testing for Sudden Unexplained Death in the Young
David J. Tester, BS* and
Michael J. Ackerman, MD, PhD*, , ,*
* Department of Molecular Pharmacology and Experimental Therapeutics
Department of Medicine, Division of Cardiovascular Diseases
Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota
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Figure 1 Summary of LQTS-Associated Channel Mutations in SUD
The putative sudden unexplained death (SUD)–associated pathogenic mutations (yellow circles) identified in this study are depicted with their approximate location on this schematic representation of the linear topology (not drawn to scale) of the cardiac channel subunits implicated in long QT syndrome (LQTS). Numbers shown within the circles correspond to the case numbers in Table 2. Note that the locations of the KCNQ1 and KCNE1 polymorphisms are not shown for case 11. *Functional polymorphism.
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Figure 2 Summary of the Yield of Postmortem Cardiac Channel Genetic Testing in Cases of Autopsy-Negative SUD
Depicted is a pie chart summarizing the frequency and distribution of cardiac channel genotypes detected after a molecular autopsy of 49 medical examiner/coroner-referred cases of sudden unexplained death (SUD).
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