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
Numerical Simulation of Thrombotic Occlusion in Tortuous Arterioles
Tortuous microvessels alter blood flow and stimulate thrombosis but the physical mechanisms are poorly understood. Both tortuous microvessels and abnormally large platelets are seen in diabetic patients. Thus, the object...
Short and Medium-Term Evaluation of Patients in Coronary Post-Angioplasty: Préliminary results at the Cardiology Department of the Hospital University Aristide Le Dantec of Dakar (Senegal): Study on 38 Cases
Introduction: Coronary angioplasty is a safe therapeutic method for coronary disease. However, its major obstacles remain the occurrence of stent thrombosis (ST) and in-stent restenosis (ISR). The aim of this study was t...
Mid-Ventricular Ballooning in Atherosclerotic and Non-Atherosclerotic Abnormalities of the Left Anterior Descending Coronary Artery
Myocardial coronary bridging [1], encasement [2], and mid-LAD rigid straightening [3-5] appears to be epiphenomenon of takotsubo syndrome [6], rather than causing the disease. Typical takotsubo syndrome usually lasts onl...
Incidence of symptom-driven Coronary Angiographic procedures post-drug-eluting Balloon treatment of Coronary Artery drug-eluting stent in-stent Restenosis-does it matter?
Objectives: The clinical impact of drug-eluting balloon (DEB) coronary intervention for drug-eluting in-stent restenosis (DES-ISR) is not fully known. To further evaluate this impact, we aimed to describe the incidence o...
Subacute infectious endocarditis-associated membranoproliferative glomerular nephritis: A Case Report and Review
We experienced a case of membranoproliferative glomerulonephritis (MPGN) caused by subacute infectious endocarditis (SIE). A 57-year-old male farmer complained of fatigue, lack of appetite and gross haematuria for a mont...