Non-synonymous 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, i.e. hypertrophic (HCM), non-compaction (NCMP/LVNC), dilated (DCM), restrictive (RCM) and arrhythmogenic right ventricular (ARVC) cardiomyopathy. In addition, the occasionally occurring overlap in clinical presentation 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 Source Type: research