Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

AUTOR(ES)

Manso, Paulo Henrique; Suazo, Veridiana Kiill; Amaral, Fernando Tadeu Vasconcelos; Jurca, Mauro Cruz; Trad, Henrique Simão

FONTE

International Journal of Cardiovascular Sciences

DATA DE PUBLICAÇÃO

2022

RESUMO

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.

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