Inherited isolated arrhythmogenic…

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Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656Disease

What it is

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, 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.

Key facts

Age of onset
No data available
Inheritance
Autosomal dominant
Classified as
Disease

Recorded for the broader condition

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes reported in subtypes

CDH2CTNNA3DSC2DSG2DSPFLNCJUPLDB3LMNAPKP2PLNTAX1BP3TGFB3TMEM43TTN

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

I42.8filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0016342OMIM 107970OMIM 602086OMIM 602087OMIM 604400OMIM 604401OMIM 607450OMIM 609040OMIM 610193OMIM 610476OMIM 611528OMIM 615616UMLS C4274968

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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