Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants

Mutations in the LMNA-gene can cause a variety of 'laminopathies'. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and conduction system abnormalities, and less com...

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Bibliographic Details
Published in:Journal of cardiovascular development and disease 2024, Vol.11 (3)
Main Authors: Wu, Hoi W, Van de Peppel, Ivo P, Rutten, Julie W, Jukema, J Wouter, Aten, Emmelien, Jazet, Ingrid M, Koopmann, Tamara T, Barge-Schaapveld, Daniela Q C M, Ajmone Marsan, Nina
Format: Report
Language:English
Online Access:Get full text
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Summary:Mutations in the LMNA-gene can cause a variety of 'laminopathies'. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and conduction system abnormalities, and less commonly, progeroid disorders. This case series describes two families in which two novel LMNA-gene variants were identified, and who presented with an atypical progeroid phenotype with primarily premature aortic and mitral valve stenosis. Interestingly, these families exhibited no clear evidence of multisystem involvement, illustrating the complex role of lamins A/C.
ISSN:2308-3425
DOI:10.3390/jcdd11030086