Stefan Peters

Translational cardiology combines different techniques in order to get a correct diagnosis (precision medicine). In a rare disease called arrhythmogenic left ventricular cardiomyopathy caused by non-desmosonal gene mutations 12-lead ECG and results of genetics were combined and analyzed. In a few gene mutations ECG findings were highly specific and predicts gene mutation, like desmoplakin, phospholamban, desmoglein-2, desmocollin-2, TMEM43, lamin A/C, and probably filamin C mutation.

With the help of simple 12-lead ECG technique a precise prediction of specific gene mutation can be made.

Keywords: Arrhythmogenic left ventricular cardiomyopathy; T-wave inversions; low voltage in limb leads; developing right bundle branch block; anteroseptal R-wave reduction.

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