Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardi...

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Detalles Bibliográficos
Autores principales: ALFARIH, MASHAEL, SYRRIS, PETROS, ARBUSTINI, ELOISA, AUGUSTO, JOÃO B., HUGHES, ALUN, LLOYD, GUY, LOPES, LUIS R., MOON, JAMES C., MOHIDDIN, SAIDI, CAPTUR, GABRIELLA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859410/
https://www.ncbi.nlm.nih.gov/pubmed/31788659
Descripción
Sumario:In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal fibrosis, heart failure and thromboembolic complications.

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