Original language | English (US) |
---|---|
Pages (from-to) | 163-168 |
Number of pages | 6 |
Journal | HeartRhythm Case Reports |
Volume | 5 |
Issue number | 3 |
DOIs | |
State | Published - Mar 2019 |
Keywords
- Brugada syndrome
- Cardiac arrest
- Genetic testing
- Rare variant interpretation
- SCN5A
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
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In: HeartRhythm Case Reports, Vol. 5, No. 3, 03.2019, p. 163-168.
Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication
AU - Stutzman, Marissa J.
AU - Ye, Dan
AU - Tester, David J.
AU - Giudicessi, John R.
AU - Ackerman, Michael J.
N1 - Funding Information: This work was supported by the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program. Dr Ackerman is a consultant for Audentes Therapeutics, Boston Scientific, Gilead Sciences, Invitae, Medtronic, MyoKardia, and St. Jude Medical. Dr Ackerman, Mr Tester, and Mayo Clinic have received sales-based royalties in the past from Transgenomic for their FAMILION-LQTS and FAMILION-CPVT genetic tests. Dr Ackerman and Mayo Clinic have a royalty/equity relationship with AliveCor, Blue Ox Health, and StemoniX, but without remuneration thus far. However, none of these entities have contributed to this study in any manner. Funding Information: This work was supported by the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program. Dr Ackerman is a consultant for Audentes Therapeutics, Boston Scientific, Gilead Sciences, Invitae, Medtronic, MyoKardia, and St. Jude Medical. Dr Ackerman, Mr Tester, and Mayo Clinic have received sales-based royalties in the past from Transgenomic for their FAMILION-LQTS and FAMILION-CPVT genetic tests. Dr Ackerman and Mayo Clinic have a royalty/equity relationship with AliveCor, Blue Ox Health, and StemoniX, but without remuneration thus far. However, none of these entities have contributed to this study in any manner.
PY - 2019/3
Y1 - 2019/3
KW - Brugada syndrome
KW - Cardiac arrest
KW - Genetic testing
KW - Rare variant interpretation
KW - SCN5A
UR - http://www.scopus.com/inward/record.url?scp=85060233860&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85060233860&partnerID=8YFLogxK
U2 - 10.1016/j.hrcr.2018.11.019
DO - 10.1016/j.hrcr.2018.11.019
M3 - Article
AN - SCOPUS:85060233860
SN - 2214-0271
VL - 5
SP - 163
EP - 168
JO - HeartRhythm Case Reports
JF - HeartRhythm Case Reports
IS - 3
ER -