Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

catecholaminergic ventricular tachycardia #3695

Closed
jmcmurry opened this issue Jun 19, 2018 · 2 comments
Closed

catecholaminergic ventricular tachycardia #3695

jmcmurry opened this issue Jun 19, 2018 · 2 comments

Comments

@jmcmurry
Copy link
Contributor

For new term requests, please provide us with the following information:

1. Preferred term label

catecholaminergic ventricular tachycardia

2. Synonyms

biventricular tachycardia

3. Textual definition (should be understandable even for non-specialists, please include a PubMed ID for relevant articles providing additional information about the suggestion)

4. Parent term (use HPO Browser or OLS)

polymorphic ventricular tachycardia HP_0031677

5. Which diseases are characterized by this term ? (e.g. Orphanet- or OMIM-id)

CPVT OMIM:604772

6. Your nano-attribution (ORCID-id or label, e.g. HPO:probinson (organization:name))

https://orcid.org/0000-0002-1655-8012 Elisa Mastantuono
These disorders have a clear genotype-phenotype correlations and use the specific ECG terms is helpful to select the disease associated genes.
If the exact terms exist that the cardiologists use, then there are fewer genes to consider. OMIM term is more general however supporting papers are clearer and more specific.

@pnrobinson
Copy link
Contributor

@jmcmurry according to my reading of this article,
http://circep.ahajournals.org/content/5/5/1044
there is no PHENOTYPIC difference to "polymorphic ventricular tachycardia" -- the modifer "catecholaminergic" refers to the etiology and thus is more of a description of a disease than of the phenotype. Thus, if you do not know the diagnosis already, this will not help. Could you please ask Elisa if my interpretation is correct. Otherwise, could she please provide a description of what differentiates "catecholaminergic ventricular tachycardia" (aka "catecholaminergic polymorphic ventricular tachycardia") from garden variety "polymorphic ventricular tachycardia"?

@pnrobinson
Copy link
Contributor

I think that we should not create a new term here. Closing this issue, reopen if needed.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants