Atypical clinical features in a young boy with LMNA mutation: expanding the spectrum of laminopathies.

Laminopathies represent a group of inherited disorders, with emerging novel and atypical manifestations. We present the case of a 17-year-old boy with LMNA mutation, showing dilated cardiomyopathy, aortic root dilatation, pontine cavernous angiomas, sensorineural hearing loss, and osteogenic sarcoma. These findings expand the known phenotypic spectrum of laminopathies and highlight the need for multidisciplinary evaluation from a young age.