Electrocardiographic criteria in founder mutations related to Arrhythmogenic cardiomyopathy
Journal Title: Journal of Cardiology and Cardiovascular Medicine - Year 2018, Vol 3, Issue 1
Abstract
Founder mutations are rare causes in arrhythmogenic cardiomyopathy including TMEM43 und phospholamban mutations. The incidence is approximately 1%. P.S358L TMEM43 mutations cause aggressive, in most cases biventricular arrhythmogenic cardiomyopathy [1], with the necessity of primary prophylactic ICD implantation in men and in women>30 years for sudden cardiac death prevention. The mutation increases the stiffness of the cell nucleus thus producing the massive loss of cardiomyocytes [2]. P.Arg14del phospholamban mutations cause biventricular arrhythmogenic cardiomyopathy with predominant heart failure, and in some cases, secondary sudden cardiac death [3]. Both founder mutations have characteristic electrocardiographic appearance, together with typical ECG manifestations of arrhythmogenic cardiomyopathy like right precordial T-wave inversions, terminal activation delay and epsilon waves in right precordial leads. Typical ECG manifestations in TMEM43 mutations are poor R-wave progression in right precordial leads (Figure 1), often associated with T-wave inversions in lateral leads [4]. Typical ECG manifestations in phospholamban mutations are low voltage ECG [5], more than complete right bundle branch block [6], epsilon waves in right precordial leads and in lead aVR [7] and right precordial T-wave inversions (Figure 2). Atrial fibrillation occurs frequently.
Authors and Affiliations
S Peters
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- EP ID EP537691
- DOI 10.29328/journal.jccm.1001021
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