Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins

摘要: Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritant disease with autosomal dominant mode of transmission incomplete penetrance and variable expression. Linkage analysis in affected families succeeds identifying 9 loci determining subtypes the disease. Genotype phenotype correlation unclear influence various environmental factors discussed. Objectives 2 pairs monozygotic twins ARVC role are analyzed. Patients methods Among 40 pts their 195 relatives there were twins: brothers, age 47 y; sisters, 48 y. History, ECG, Holter monitoring, 2D Doppler Echo, MRI Results Twin brothers: was diagnosed proband after episode VT LBBB morphology (enlarged ventricle, focal hypokinesia apex, MR evidence adipose tissue RV wall). Identical seen asymptomatic twin brother. The patient presenting arrhythmia has been rowing for 4 years. sisters: diagnosis done during family screening. Both asymptomatic. typical found discrete one them (bulges apex); latter showed changes suggesting abnormality (mild segmental dilatation infundibulum, a free wall RV). No differences previous viral infections sports involvement observed. Conclusions 1. Clinical picture not identical. 2. Strenuous effort may be factor triggering ARVC.