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

Published online by Cambridge University Press:  30 September 2025

Nicoletta Cantarutti Open the ORCID record for Nicoletta Cantarutti [Opens in a new window] ,
Maria C. Casarini  and
Fabrizio Drago Open the ORCID record for Fabrizio Drago [Opens in a new window]
Nicoletta Cantarutti*
Affiliation:
Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy
Maria C. Casarini
Affiliation:
Pediatric Unit, Department of Maternal Infantil and Urological Science, Sapienza University of Rome, Rome, Italy
Fabrizio Drago
Affiliation:
Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy
*
Corresponding author: Nicoletta Cantarutti; Email: nicoletta.cantarutti@opbg.net
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Abstract

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.

Keywords

Laminopathiescardiomyopathyhypoacusiaangiomatosisosteosarcoma

Information

Type
Case Report
Information
Cardiology in the Young , First View , pp. 1 - 2
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

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