A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.
Abstract
Variants of unknown significance in cardiomyopathic disease should be analyzed systematically
based on the prevalence of the variant in the population compared to prevalence of
disease, evidence that other variants in the gene are pathologic, consistency of prediction
software on pathogenicity, and the current clinical consensus.
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Journal articlePermalink
https://hdl.handle.net/10161/20302Published Version (Please cite this version)
10.1002/ccr3.1920Publication Info
(2019). A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a
role for signal-to-noise analysis in gene test re-interpretation. Clinical case reports, 7(1). pp. 211-217. 10.1002/ccr3.1920. Retrieved from https://hdl.handle.net/10161/20302.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Andrew Paul Landstrom
Associate Professor of Pediatrics
Dr. Landstrom is a physician scientist who specializes in the care of children and
young adults with arrhythmias, heritable cardiovascular diseases, and sudden unexplained
death syndromes. As a clinician, he is trained in pediatric cardiology with a focus
on arrhythmias and genetic diseases of the heart. He specializes in caring for patients
with heritable arrhythmia (channelopathies) such as long QT syndrome, Brugada syndrome,
catecholaminergic polymorphic ventricular tachycardia,
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