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Volume 11
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10.3390/jcdd11030086
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Case Report

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

by
Hoi W. Wu
1,
Ivo P. Van de Peppel
2,
Julie W. Rutten
2,
J. Wouter Jukema
1,3,
Emmelien Aten
2,
Ingrid M. Jazet
4,
Tamara T. Koopmann
2,
Daniela Q. C. M. Barge-Schaapveld
2,† and
Nina Ajmone Marsan
1,*,†
1
Department of Cardiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
2
Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
3
Netherlands Heart Institute, 3511 EP Utrecht, The Netherlands
4
Department of General Internal Medicine and Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
J. Cardiovasc. Dev. Dis. 2024, 11(3), 86; https://doi.org/10.3390/jcdd11030086
Submission received: 30 December 2023 / Revised: 27 February 2024 / Accepted: 4 March 2024 / Published: 5 March 2024
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Abstract

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.
Keywords: LMNA-gene variant; atypical progeroid syndrome; mitral valve stenosis; aortic valve stenosis LMNA-gene variant; atypical progeroid syndrome; mitral valve stenosis; aortic valve stenosis

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MDPI and ACS Style

Wu, H.W.; Van de Peppel, I.P.; Rutten, J.W.; Jukema, J.W.; Aten, E.; Jazet, I.M.; Koopmann, T.T.; Barge-Schaapveld, D.Q.C.M.; Ajmone Marsan, N. Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants. J. Cardiovasc. Dev. Dis. 2024, 11, 86. https://doi.org/10.3390/jcdd11030086

AMA Style

Wu HW, Van de Peppel IP, Rutten JW, Jukema JW, Aten E, Jazet IM, Koopmann TT, Barge-Schaapveld DQCM, Ajmone Marsan N. Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants. Journal of Cardiovascular Development and Disease. 2024; 11(3):86. https://doi.org/10.3390/jcdd11030086

Chicago/Turabian Style

Wu, Hoi W., Ivo P. Van de Peppel, Julie W. Rutten, J. Wouter Jukema, Emmelien Aten, Ingrid M. Jazet, Tamara T. Koopmann, Daniela Q. C. M. Barge-Schaapveld, and Nina Ajmone Marsan. 2024. "Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants" Journal of Cardiovascular Development and Disease 11, no. 3: 86. https://doi.org/10.3390/jcdd11030086

APA Style

Wu, H. W., Van de Peppel, I. P., Rutten, J. W., Jukema, J. W., Aten, E., Jazet, I. M., Koopmann, T. T., Barge-Schaapveld, D. Q. C. M., & Ajmone Marsan, N. (2024). Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants. Journal of Cardiovascular Development and Disease, 11(3), 86. https://doi.org/10.3390/jcdd11030086

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