Paulo Henrique Manso et al. Veridiana Kiill Suazo Fernando Tadeu Vasconcelos Amaral Mauro Cruz Jurca Henrique Simão Trad
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.