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

Mashael Alfarih; Petros Syrris; Eloisa Arbustini; João B. Augusto; Alun Hughes; Guy Lloyd; Luis R. Lopes; James C. Moon; Saidi Mohiddin; Gabriella Captur

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

Mashael Alfarih, Petros Syrris, Eloisa Arbustini, João B. Augusto, Alun Hughes, Guy Lloyd, Luis R. Lopes, James C. Moon, Saidi Mohiddin, Gabriella Captur

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	159-162
Number of pages	4
Journal	Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Volume	38
Issue number	3
Publication status	Published - Sep 1 2019

Keywords

cardiolaminopathies
familial dilated cardiomyopathy
lamin A/C

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

Cite this

Alfarih, M., Syrris, P., Arbustini, E., Augusto, J. B., Hughes, A., Lloyd, G., Lopes, L. R., Moon, J. C., Mohiddin, S., & Captur, G. (2019). Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 38(3), 159-162.

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 et al.

In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, Vol. 38, No. 3, 01.09.2019, p. 159-162.

Research output: Contribution to journal › Article › peer-review

Alfarih, M, Syrris, P, Arbustini, E, Augusto, JB, Hughes, A, Lloyd, G, Lopes, LR, Moon, JC, Mohiddin, S & Captur, G 2019, 'Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study', Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, vol. 38, no. 3, pp. 159-162.

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AU - Lloyd, Guy

AU - Lopes, Luis R.

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

Abstract

Keywords

ASJC Scopus subject areas

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