Kalliopi Pilichou

TL;DR: The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex.

TL;DR: Comparison-enhanced cardiac magnetic resonance may help to identify in vivo this concealed substrate for risk stratification of ventricular electric instability, an underestimated cause of arrhythmic SCD in young adult women.

TL;DR: The ultrastructural evidence of intercalated discs remodelling in ARVC, together with the positive screening of D protein encoding genes in half of probands, are in keeping with an intercellular junction cardiomyopathy.

TL;DR: Domenico Corrado *, Peter J. van Tintelen, William J. McKenna, Richard N.W. Hauer, Aris Anastastakis, Angeliki Asimaki, Cristina Basso, Barbara Bauce, Corinna Brunckhorst, Chiara Bucciarelli-Ducci, Firat Duru, Perry Elliott, Robert M. Hamilton, Kristina H. Haugaa, Cynthia A.

TL;DR: Mitral annulus disjunction is a constant feature of arrhythmic MVP with LV fibrosis and the excessive mobility of the leaflets caused by posterior systolic curling accounts for a mechanical stretch of the inferobasal wall and papillary muscles, eventually leading to myocardial hypertrophy and scarring.