Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
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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| Main Authors: | , , , , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Sociedade Brasileira de Cardiologia
2022
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472022000100136 |
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