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

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

The likely pathogenic variant c.407A>T p.Asp136Val of the <i>LMNA</i> gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated with severe aortic valve stenosis. We further describe the cardiovascular involvement associated with the syn...

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Bibliographic Details
Main Authors: Anna-Gaëlle Giguet-Valard, Astrid Monfort, Hugues Lucron, Helena Mosbah, Franck Boccara, Camille Vatier, Corinne Vigouroux, Pascale Richard, Karim Wahbi, Remi Bellance, Elisabeth Sarrazin, Jocelyn Inamo
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Cardiogenetics
Subjects:
atypical progeroid syndrome
<i>LMNA</i> variant
coronary artery disease
valvular heart disease
dilated cardiomyopathy
Online Access:https://www.mdpi.com/2035-8148/13/4/13

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https://www.mdpi.com/2035-8148/13/4/13

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