Details of Disease

General Information of Disease (ID: DISBIOAZ)

• Disease Name: Familial isolated arrhythmogenic right ventricular dysplasia
• Synonyms: familial isolated arrhythmogenic ventricular dysplasia; familial isolated arrhythmogenic right ventricular dysplasia; familial isolated arrhythmogenic ventricular cardiomyopathy; familial isolated arrhythmogenic right ventricular cardiomyopathy; familial isolated ARVC; familial isolated ARVD
• Definition: 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.
• Disease Hierarchy:
  DIS3V2BE: Arrhythmogenic right ventricular cardiomyopathy
  DISBA1TN: Familial cardiomyopathy
  DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0016342
  UMLS CUI: C4274968
  MedGen ID: 901869
  Orphanet ID: 217656
  SNOMED CT ID: 715865008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSC2	OTODVH8K	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.