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 |
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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