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...

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Published inInternational journal of cardiovascular sciences Vol. 35; no. 1; pp. 136 - 139
Main Authors Manso, Paulo Henrique, Suazo, Veridiana Kiill, Amaral, Fernando Tadeu Vasconcelos, Jurca, Mauro Cruz, Trad, Henrique Simão
Format Journal Article
LanguagePortuguese
Published Sociedade Brasileira de Cardiologia 01.02.2022
Subjects
CARDIAC & CARDIOVASCULAR SYSTEMS
Lamin Type A/C/genetics
Cardiomyopathies/ physiopathology
Isolated Left Ventricular/abnormalities
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Summary: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.
ISSN:2359-5647
2359-5647
DOI:10.36660/ijcs.20200148