Arrhythmogenic Right Ventricular Dysplasia Precision Panel

Overview

• Arrhythmogenic Right Ventricular Dysplasia (ARVD) is an inherited cardiomyopathy characterized by structural and functional abnormalities in the right ventricle, resulting in ventricular arrhythmias. It is a rare but important cause of sudden arrhythmic death in young and healthy personas, as well as a subtle cause of congestive heart failure, which can lead to temporary incapacitation with severe consequences. Structurally, although less prominent than right ventricle, left ventricle can be also affected by myocyte loss and fibrosis, increasing the likelihood of this condition with age. This fact suggests that ARVD is a progressive disease. Affected individuals do not have evidence of the disease at birth, and typically the disease starts to manifest clinically at approximately 12 or 13 years of age, with the mean age at diagnosis in the early 30s. The mode of inheritance is mainly autosomal dominant. 

• The Igenomix Arrhythmogenic Right Ventricular Dysplasia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of cardiomyopathy, ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

• The Igenomix Arrhythmogenic Right Ventricular Dysplasia Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations: 
  • Palpitations 
  • Arrhythmias during exercise 
  • Syncope 
  • Atypical chest pain 
  • Dyspnea 
  • Right Ventricular Failure 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of multidisciplinary treatment to reduce mortality, prevent disease progression, improve symptoms and quality of life, limit heart failure symptoms and improve functional capacity. Pharmacological treatment includes Beta-blocker therapy and antiarrhythmic agents such as flecainide, propafenone, sotalol and amiodarone, to prevent ventricular tachycardia. In most severe cases, an implantable cardioverter-defibrillator or even a heart transplantation might be needed. Lifestyle changes will always help getting a better prognosis.  
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

** HGMD: Number of clinically relevant mutations according to HGMD