Genetics of arrhythmogenic right ventricular cardiomyopathy

Genetics of arrhythmogenic right ventricular cardiomyopathy.

Recent advances in molecular genetics of arrhythmogenic right ventricular cardiomyopathy (ARVD) are reviewed. In particular, the finding of mutations in the gene coding for cardiac ryanodine receptor (hRYR2), both in patients affected with ARVD2 and in patients affected with catecholaminergic ventricular arrhythmias or with familial ventricular tachyarrhythmia, is discussed. Novel data support ...

Assessing the significance of pathogenic mutations and autopsy findings in the light of 2010 arrhythmogenic right ventricular cardiomyopathy diagnostic criteria: a clinical challenge.

Arrhythmogenic Right Ventricular Cardiomyopathy: Toward a Modern Clinical and Genomic Understanding.

Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

BACKGROUND With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation analysis is being applied. METHODS AND RESULTS The role of genotyping in familial assessment for arrhythmogenic right ventricular cardiomyopathy was investigated, including the prevalence of mutations in known causal genes, the penetrance and expressivity in genotyped families, an...

Cardiac magnetic resonance imaging in pediatric patients ≤ 18 years with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC): a correlation to genetics

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with increased risk of sudden cardiac death. It is a progressive disease that can already manifest itself during childhood and adolescence. Since little is known about the early stage in pediatric patients, this study sought to determine the influence of right and left ventricular findings from cardiac magnetic reso...

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a family affair.

Has referral for genetic evaluation of inherited cardiomyopathies and arrhythmias become a routine part of your clinical practice yet? After several decades of molecular genetic research into the causes of inherited forms of heart disease, the field of cardiovascular genetics is rapidly growing. The pace of progress has accelerated even further in the setting of remarkable technologies that hav...