Die Arrhythmogene Rechtsventrikuläre Dysplasie/Kardiomyopathie

arrhythmogenic right ventricular dysplasia/cardiomyopathy: an underrecognised disease? Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disease that may lead to sudden cardiac death (SCD) and progressive heart failure. Genetic studies have identified causative mutations in genes encoding desmosomal proteins that reduce the stability of the myocardial structure. Thus, ARVD/C is regarded as a genetically determined myocardial dystrophy. The term “right ventricular” is misleading, as in up to 50% of the cases, the left ventricle is also involved and a broader term such as “arrhythmogenic cardiomyopathy” may be preferred. Since the modification of the original 1994 Task Force criteria by W. McKenna and colleagues in 2010, the diagnosis is established according to the “Revised Task Force Criteria”. These include imaging techniques demonstrating functional a nd structural changes of the right ventricle, fibrous replacement of myocardium through biopsy, electrocardiogram depolarisation and repolarisation abnormalities, ventricular arrhythmias and a positive family history including identification of pathogenic genetic mutations. This approach s hall increase sensitivity for early diagnosis without loosing specificity. Several risk factors for SCD such as syncope, certain mutations and young age at manifestation have been identified, although risk stratification still needs improvement, especially in oligosymptomatic patients. Therapeutic strategies include restriction from strenuous physical exercise, antiarrhythmic drugs such as betablockers, sotalol and amiodarone and implantable cardioverter defibrillators. Life-long follow-up is warranted in asymptomatic carriers of pathogenic mutations due to differences in age-related penetrance. Given the clinical relevance of this underrecognised disease, we have established a research and clinical program with focus on ARVD/C at the Clinic for Cardiology of the University Hospital Zurich.