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?

Loading next page...
 
/lp/wolters_kluwer/is-careful-assessment-of-rare-variants-in-the-ryr2-gene-piercing-the-J0BllNenaR
Publisher
Wolters Kluwer Health
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

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off