A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes

The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated severe aortic valve stenosis. We further describe cardiovascular involvement syndrome her family. identified seven members general presentation suggestive syndrome. All them presented heart conduction abnormalities: degenerative cardiac diseases such as coronary artery disease (two subjects) and stenosis (three occurred 3rd–5th decade, patient developed dilated cardiomyopathy, leading to death at 15 years age. was found all patients who consented carry out genetic test. This diverse family cardiologic phenotype emphasizes complex molecular background play lamin-involved diseases, need for early thorough evaluations laminopathic syndromes.