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

Manso, Paulo Henrique; Suazo, Veridiana Kiill; Amaral, Fernando Tadeu Vasconcelos; Jurca, Mauro Cruz; Trad, Henrique Simão.
Int. j. cardiovasc. sci. (Impr.); 35 (1), 2022
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...
No Compactación Aislada del Miocardio Ventricular/etiología, Artrogriposis, No Compactación Aislada del Miocardio Ventricular/fisiopatología, Lamina Tipo A/genética, No Compactación Aislada del Miocardio Ventricular/diagnóstico, Lamina Tipo A/deficiencia
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Inflammatory myopathy in the context of an unusual overlapping laminopathy

Guillín-Amarelle, Cristina; Sánchez-Iglesias, Sofía; Mera, Antonio; Pintos, Elena; Castro-Pais, Ana; Rodríguez-Cañete, Leticia; Pardo, Julio; Casanueva, Felipe F; Araújo-Vilar, David.
Arch. endocrinol. metab. (Online); 62 (3), 2018
Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscula...
Síndrome de Cushing/genética, Cardiopatías/genética, Lamina Tipo A/genética, Lipodistrofia/genética, Síndrome Metabólico/genética, Miositis/genética, Síndrome
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