Orphanet: Inherited isolated arrhythmogenic cardiomyopathy

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Inherited isolated arrhythmogenic cardiomyopathy

Disease definition

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.

ORPHA:217656

Classification level: Disorder

Synonym(s):
- ACM
- Familial isolated arrhythmogenic right ventricular dysplasia
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: -
ICD-10: I42.8
ICD-11: BC43.6
OMIM: 107970 600996 602086 602087 604400 604401 607450 609040 610193 610476 611528 615616
UMLS: C4274968
MeSH: -
GARD: -
MedDRA: -

Detailed information

Guidelines

Emergency guidelines
Français (2019, pdf) - Orphanet Urgences

Clinical practice guidelines
English (2019) - Heart Rhythm
Français (2021) - PNDS
Français (2022) - PNDS

Anesthesia guidelines
Czech (2018) - Orphananesthesia
English (2018) - Orphananesthesia
Español (2018) - Orphananesthesia
Português (2018) - Orphananesthesia

Disease review articles

Review article
English (2016) - Orphanet J Rare Dis

Clinical genetics review
English (2023) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2013) - Eur J Hum Genet
Deutsch (2018) - DGK

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656

A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2015, pdf) Russian (2014, pdf)

Guidelines

Disease review articles

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services