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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: 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.

SUBMITTER: Alfarih M

PROVIDER: S-EPMC6859410 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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

Alfarih Mashael M Syrris Petros P Arbustini Eloisa E Augusto João B JB Hughes Alun A Lloyd Guy G Lopes Luis R LR Moon James C JC Mohiddin Saidi S Captur Gabriella G

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20190901 3

In a five-generation family carrying a novel frameshift <i>LMNA</i> 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. ...[more]

PMID: 31788659

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