Review classificiation of arrhythmogenic cardiomyopathy genetic subtypes (and Naxos disease)

[allenbaron]

Arrhythmogenic cardiomyopathy now consists of 3 major subtypes: right ventricular, biventricular, and left ventricular. Previously, they were all considered right ventricular. OMIM & DO still have them named this way and grouped together (in DO they're all children of 'arrhythmogenic right ventricular cardiomyopathy' (DOID:0050431).

We need to review the genetic subtypes to determine which are right, left, or biventricular. The left ventricular and biventricular subtypes were added in response to #1280. Orphanet xrefs also need to be revised & added.

We should also consider adding a grouping parent for these 3 subtypes. The natural choice would be 'arrhythmogenic cardiomyopathy' but the term has also been proposed as a broader grouping for various heart diseases, which complicates matters. An alternative could be 'inherited arrhythmogenic cardiomyopathy'.

The broader term “Arrhythmogenic cardiomyopathy, ACM” is currently used to encompass the whole spectrum of the abovementioned disease phenotypic expressions [7]. This term should not be confused with the one of “arrhythmogenic cardiomyopathies”, which has been proposed to comprise a series of different conditions that share non-ischemic myocardial scarring and the propensity to scar-related VAs [7].
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268983/

Supporting information can be found in Curation_Review-arrhythmogenic_cardiomyopathy google doc and the corresponding OMIM inventory sheet, which shows that DO has all the OMIM subtypes.

Consider reviewing the classification of 'Naxos disease'(DOID:0080551) as part of this work as well.

Potentially relevant publications:

• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138528/
• https://www.ahajournals.org/doi/10.1161/JAHA.121.021987
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8746198/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268983/

[allenbaron]

May also be useful:

• https://www.sciencedirect.com/science/article/pii/S0735109708032683
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807425/ --> shows the difficulty in defining ACM when a genetic cause is not identifiable.

Also may need to update associated genes listed in definitions (some are missing genes).