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.
|Number of pages||4|
|Journal||Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology|
|Publication status||Published - Sep 1 2019|
- familial dilated cardiomyopathy
- lamin A/C
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine