Nonsynonymous TNNI3K mutations and phenotypes: More than a “simple” cardiomyopathy

In the past years, a plentitude of genes (and subsequently genetic variants) have been associated with the broad phenotypic spectrum of cardiomyopathies: hypertrophic cardiomyopathy (HCM), noncompaction (NCMP; left ventricular noncompaction [LVNC]), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). In addition, the occasional overlap in clinical presentation seen using cardiac imaging and electrocardiography led to additional, more descriptive categories such as arrhythmogenic cardiomyopathy (AC) and detailed cardiomyopathy classifications in progress.

Source: Heart Rhythm - July 28, 2018 Category: Cardiology Authors: Sven Dittmann, Eric Schulze-Bahr Tags: Editorial Commentary Source Type: research