Novel gene mutation identified in a patient with arrhythmogenic ventricular cardiomyopathy

Introduction The field of genetics is rapidly evolving, and as our knowledge of the application of genetic mutations to the field of heart disease expands, so does its role in the treatment and counseling of cardiac patients. This is particularly true in the case of cardiomyopathy, and in the tragic circumstance of sudden cardiac death. In this paper, we report a novel and previously unreported rare variant involving the Desmoplakin (DSP) gene. This variant was isolated in a patient who presented with aborted sudden cardiac death and was subsequently found to have a nonischemic cardiomyopathy.