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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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
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author ALFARIH, MASHAEL
SYRRIS, PETROS
ARBUSTINI, ELOISA
AUGUSTO, JOÃO B.
HUGHES, ALUN
LLOYD, GUY
LOPES, LUIS R.
MOON, JAMES C.
MOHIDDIN, SAIDI
CAPTUR, GABRIELLA
author_facet ALFARIH, MASHAEL
SYRRIS, PETROS
ARBUSTINI, ELOISA
AUGUSTO, JOÃO B.
HUGHES, ALUN
LLOYD, GUY
LOPES, LUIS R.
MOON, JAMES C.
MOHIDDIN, SAIDI
CAPTUR, GABRIELLA
author_sort ALFARIH, MASHAEL
collection PubMed
description 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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spelling pubmed-68594102019-11-29 Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study ALFARIH, MASHAEL SYRRIS, PETROS ARBUSTINI, ELOISA AUGUSTO, JOÃO B. HUGHES, ALUN LLOYD, GUY LOPES, LUIS R. MOON, JAMES C. MOHIDDIN, SAIDI CAPTUR, GABRIELLA Acta Myol Original Articles 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. Pacini Editore srl 2019-09-01 /pmc/articles/PMC6859410/ /pubmed/31788659 Text en ©2019 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Original Articles
ALFARIH, MASHAEL
SYRRIS, PETROS
ARBUSTINI, ELOISA
AUGUSTO, JOÃO B.
HUGHES, ALUN
LLOYD, GUY
LOPES, LUIS R.
MOON, JAMES C.
MOHIDDIN, SAIDI
CAPTUR, GABRIELLA
Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study
title Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study
title_full Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study
title_fullStr Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study
title_full_unstemmed Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study
title_short Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study
title_sort familial cardiomyopathy caused by a novel heterozygous mutation in the gene lmna (c.1434dupg): a cardiac mri-augmented segregation study
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859410/
https://www.ncbi.nlm.nih.gov/pubmed/31788659
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