Translation of electrocardiography and genetics in arrhythmogenic left ventricular cardiomyopathy

Arrhythmogenic cardiomyopathy includes right dominant, biventricular and left dominant types of the disease. Case reports suggest that ECG findings are able to characterize gene mutations in arrhythmogenic left ventricular cardiomyopathy, in particular desmoplakin, phospholamban, filamin C, lamin A/C, desmoglein-2, desmocollin-2, desmin, and TMEM43.

Method: In 489 patients (310 males, mean age 42.1 ± 12.8 years) with a typical right dominant, biventricular or left dominant form of arrhythmogenic cardiomyopathy a prediction of ECG findings in special gene mutations were made.

Results: According to own data and from the literature the basis of arrhythmogenic left ventricular cardiomyopathy are low voltage in limb leads, and T-wave inversions or flattening in inferior and lateral leads in lead V5 and V6. These ECG criteria are highly typical for desmoplakin mutations. In phospholamban mutations a high uptake of T-wave inversions in lateral leads from V3 to V6 are relevant. Signs of right ventricular hypertrophy and in many cases left posterior fascicular block are typical features in desmoglein-2 and desmocollin-2 mutations. Additional typical ECG features in TMEM43 are anteroseptal R-wave reduction. The same in true in lamin A/C with additional left posterior fascicular block and in some cases ST-segment elevation inferolateral. The key finding in lamin A/C are atrioventricular conduction abnormalities. In filamin C mutations T-wave inversion inferolateral from V4 to V6 and in desmin T-wave inversions only in lateral leads V5 and V6.

Conclusions: In arrhythmogenic left ventricular cardiomyopathy special ECG findings gives a prediction in many gene mutations.