Is Careful Assessment of Rare Variants in the RYR2 Gene Piercing the Guidelines’ Strong Armor?

Is Careful Assessment of Rare Variants in the RYR2 Gene Piercing the Guidelines’ Strong Armor? EDITORIAL Is Careful Assessment of Rare Variants in the RYR2 Gene Piercing the Guidelines’ Strong Armor? See Article by Kapplinger and Pundi et al Peter J. Schwartz, MD Maria-Christina Kotta, MSc, PhD ll inherited cardiac channelopathies have their diagnostic hallmark. In the case of catecholaminergic polymorphic ventricular tachycardia (CPVT), this Ais bidirectional ventricular tachycardia during exercise. If all patients with clinical suspicion of CPVT had this diagnostic feature during an exercise stress test in the setting of a structurally normal heart and normal resting ECG, a CPVT clinical diagnosis could easily be established. Unfortunately, in everyday clinical practice, the next new patient coming to medical attention is unlikely to be a textbook case. And this is where genetics come in. The genetic revolution of the mid-1990s with the first breakthrough discover - ies of the genetic substrate underlying inherited arrhythmia syndromes seemed to promise a land where the void created by reduced penetrance and variable expressivity would be filled by a firm genetic diagnosis. Largely, this is indeed what happened and genetics have truly had a major impact on clinical management, but from this to a genetic panacea, it is a long way. A crucial element that was missing http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Circulation: Cardiovascular Genetics Wolters Kluwer Health

Is Careful Assessment of Rare Variants in the RYR2 Gene Piercing the Guidelines’ Strong Armor?

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Publisher
Wolters Kluwer
Copyright
© 2018 American Heart Association, Inc.
ISSN
1942-325X
eISSN
1942-3268
D.O.I.
10.1161/CIRCGEN.118.002072
Publisher site
See Article on Publisher Site

Abstract

EDITORIAL Is Careful Assessment of Rare Variants in the RYR2 Gene Piercing the Guidelines’ Strong Armor? See Article by Kapplinger and Pundi et al Peter J. Schwartz, MD Maria-Christina Kotta, MSc, PhD ll inherited cardiac channelopathies have their diagnostic hallmark. In the case of catecholaminergic polymorphic ventricular tachycardia (CPVT), this Ais bidirectional ventricular tachycardia during exercise. If all patients with clinical suspicion of CPVT had this diagnostic feature during an exercise stress test in the setting of a structurally normal heart and normal resting ECG, a CPVT clinical diagnosis could easily be established. Unfortunately, in everyday clinical practice, the next new patient coming to medical attention is unlikely to be a textbook case. And this is where genetics come in. The genetic revolution of the mid-1990s with the first breakthrough discover - ies of the genetic substrate underlying inherited arrhythmia syndromes seemed to promise a land where the void created by reduced penetrance and variable expressivity would be filled by a firm genetic diagnosis. Largely, this is indeed what happened and genetics have truly had a major impact on clinical management, but from this to a genetic panacea, it is a long way. A crucial element that was missing

Journal

Circulation: Cardiovascular GeneticsWolters Kluwer Health

Published: Feb 1, 2018

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