International Journal of Cardiovascular Sciences. 16/abr/2021;35(1):136-9.
Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
Paulo Henrique Manso
, 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.
Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
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