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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)159-162
Number of pages4
JournalActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Volume38
Issue number3
Publication statusPublished - Sep 1 2019

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Keywords

  • cardiolaminopathies
  • familial dilated cardiomyopathy
  • lamin A/C

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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