Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia
Arrhythmogenic right ventricular dysplasia
Is agenotype
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6.7 Arrhythmogenic right ventricular dysplasia

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Arrhythmogenic right ventricular dysplasia or cardiomyopathy (ARVD) is characterized by structural and functional abnormalities of the right ventricle.
  • Mutations in the DSC2, DSG2, DSP, PKP2 and TMEM43 genes may lead to ARVD.
  • Antiarrhythmic medication (such as beta-blockers) may be used to prevent ventricular arrhythmias.
  • Implantable cardioverter defibrillators (ICD) can be effective for the prevention of SCD in ARVD patients with extensive disease.
  • Electrophysiological (EP) testing might be useful for risk assessment of sudden cardiac death (SCD) in patients with ARVD.
  • Annual clinical screening for cardiomyopathy is recommended from ages 10 - 50 in asymptomatic individuals known to carry a disease-causing mutation(s) or at any time that signs or symptoms appear.
  • Both autosomal dominant and recessive forms of ARVD are possible; ARVD patients carrying more than one disease-associated mutation may show a more severe phenotype characterized by a younger age of onset and worse prognosis.

The full ClinGen Actionability report about Arrhythmogenic Right Ventricular Dysplasia (ARVD) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.