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 |
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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.