Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.

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.

Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy.

BACKGROUND Arrhythmogenic cardiomyopathy is one of the leading causes of sudden cardiac death in the < or =35-year age group. The broad phenotypic spectrum encompasses left-dominant and biventricular subtypes, characterized by early left ventricular involvement, as well as the classic right-dominant form, better known as arrhythmogenic right ventricular cardiomyopathy. Mendelian inheritance pat...

Electrical Storm or Naxos Syndrome in an Adult Causing Recurrent Syncope.

Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized ...

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