Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.

Abstract A rare case of congenital mitral insufficiency characterized by a fenestration in the anterior leaflet of mitral valve is reported. At operation, the mitral valve was successfully repaired by closure of unusual valvular tissue orifice with bovine pericardium and suture of the free edge between A1 and A2 without a ring annuloplasty. reported operation annuloplasty