摘要
Arrhythmogenic ventricular cardiomyopathy(AVC) isgenerally referred to as arrhythmogenic right ventricu-lar(RV) cardiomyopathy/dysplasia and constitutesan inherited cardiomyopathy.Affected patients maysuccumb to sudden cardiac death(SCD),ventriculartachyarrhythmias(VTA) and heart failure.Geneticstudies have identified causative mutations in genesencoding proteins of the intercalated disk that lead toreduced myocardial electro-mechanical stability.Theterm arrhythmogenic RV cardiomyopathy is somewhatmisleading as biventricular involvement or isolated leftventricular(LV) involvement may be present and thus abroader term such as AVC should be preferred.The di-agnosis is established on a point score basis accordingto the revised 2010 task force criteria utilizing imagingmodalities,demonstrating fibrous replacement throughbiopsy,electrocardiographic abnormalities,ventricu-lar arrhythmias and a positive family history includingidentification of genetic mutations.Although severarisk factors for SCD such as previous cardiac arrest,syncope,documented VTA,severe RV/LV dysfunctionand young age at manifestation have been identified,risk stratification still needs improvement,especially inasymptomatic family members.Particularly,the roleof genetic testing and environmental factors has to befurther elucidated.Therapeutic interventions include re-striction from physical exercise,beta-blockers,sotalol,amiodarone,implantable cardioverter-defibrillators andcatheter ablation.Life-long follow-up is warranted insymptomatic patients,but also asymptomatic carriersof pathogenic mutations.
Arrhythmogenic ventricular cardiomyopathy(AVC) isgenerally referred to as arrhythmogenic right ventricu-lar(RV) cardiomyopathy/dysplasia and constitutesan inherited cardiomyopathy.Affected patients maysuccumb to sudden cardiac death(SCD),ventriculartachyarrhythmias(VTA) and heart failure.Geneticstudies have identified causative mutations in genesencoding proteins of the intercalated disk that lead toreduced myocardial electro-mechanical stability.Theterm arrhythmogenic RV cardiomyopathy is somewhatmisleading as biventricular involvement or isolated leftventricular(LV) involvement may be present and thus abroader term such as AVC should be preferred.The di-agnosis is established on a point score basis accordingto the revised 2010 task force criteria utilizing imagingmodalities,demonstrating fibrous replacement throughbiopsy,electrocardiographic abnormalities,ventricu-lar arrhythmias and a positive family history includingidentification of genetic mutations.Although severarisk factors for SCD such as previous cardiac arrest,syncope,documented VTA,severe RV/LV dysfunctionand young age at manifestation have been identified,risk stratification still needs improvement,especially inasymptomatic family members.Particularly,the roleof genetic testing and environmental factors has to befurther elucidated.Therapeutic interventions include re-striction from physical exercise,beta-blockers,sotalol,amiodarone,implantable cardioverter-defibrillators andcatheter ablation.Life-long follow-up is warranted insymptomatic patients,but also asymptomatic carriersof pathogenic mutations.
基金
Supported by The Georg and Bertha Schwyzer-Winiker Foundation,Zurich,Switzerland
