The Cardiac Society of Australia and New Zealand Position Statement on the Diagnosis and Management of Arrhythmogenic Right Ventricular Cardiomyopathy (2019 Update)

Abstract

1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease affecting the right, and/or the left ventricle, and commonly presents as an electrical disorder with ventricular arrhythmias and increased risk of sudden cardiac death. 2 ARVC cannot be diagnosed by a single test, and is a clinical diagnosis supported by electrophysiologic, morpho-functional, genetic, and histological data based on the 2010 Task Force 2 criteria. 3 Familial involvement occurs in more than 50%, and referral to a specialist centre with access to genotyping is appropriate in selected cases. 4 Implantable cardioverter-defibrillator (ICD) therapy carries risk, and appropriate thresholds should apply before offering this, particularly in younger individuals. Clinical Characteristics Definition and Prevalence Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disorder characterised by apoptotic loss of cardiomyocytes and their replacement with fibrofatty tissue [1]. Although the right ventricle (RV) is preferentially and predominantly affected, the left ventricle (LV) is

Arrhythmogenic right ventricular cardiomyopathy characterized by recurrent syncope during exercise: A case report

“…Imaging techniques for the diagnosis of ARVC include RV dilation and dysfunction and regional wall motion abnormalities. Because of the anatomical location, load-dependent physiology, complex geometry and challenging acoustic windows of the right ventricle, it is difficult to accurately assess RV structure and function by echocardiography[ 14 ]. At the same time, the sensitivity of echocardiography in the early diagnosis of the disease is relatively poor.…”

“…Amiodarone alone or in combination with β receptor blockers is considered to be an effective treatment. It is recommended that an ICD can be applied in cardiac arrest survivors or persistent VT patients[ 14 ]. An ICD is still the standard of care in patients with ARVC with prior reported VT/syncope.…”

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report

“…Nevertheless, there are sparse reports about ARVC and even fewer ARVC cases caused by DSG2 mutations in the literature. Currently, approximately 76 pathogenic mutation sites on DSG2 are related to ARVC, 1 including the furin-cleavage site of the DSG2 protein, nt 134, nt 143, exon 9, exon 14, intron 12. Besides, it is reported in relevant research that other genetic factors may also play a role in disease penetrance of ARVC.…”