Arrhythmogenic Right ventricular Dysplasia, Familial, 9

Alternative Names

  • ARVD9
  • Arrhythmogenic Right Ventricular Cardiomyopathy 9
  • ARVC9

Associated Genes

Plakophilin 2
Back to search Result
WHO-ICD-10 version:2010

Diseases of the circulatory system

Other forms of heart disease

OMIM Number

609040

Mode of Inheritance

Autosomal dominant

Gene Map Locus

12p11.21

Description

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. [From Orphanet]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609040.1LebanonMaleNo Right ventricular cardiomyopathyNM_001005242.3:c.2377delHeterozygousAutosomal, DominantRefaat et al. 2019
© CAGS 2024. All rights reserved.