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A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report

BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirm...

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Autores principales: Suliman, Asem, Yan, Weiang, Yamashita, Michael H, Krentz, Anthony D, Mhanni, Aizeddin, Garber, Philip J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972828/
https://www.ncbi.nlm.nih.gov/pubmed/35372756
http://dx.doi.org/10.1093/ehjcr/ytac063
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author Suliman, Asem
Yan, Weiang
Yamashita, Michael H
Krentz, Anthony D
Mhanni, Aizeddin
Garber, Philip J
author_facet Suliman, Asem
Yan, Weiang
Yamashita, Michael H
Krentz, Anthony D
Mhanni, Aizeddin
Garber, Philip J
author_sort Suliman, Asem
collection PubMed
description BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirming diagnosis, using the revised Ghent criteria. CASE SUMMARY: We identified a 49-year-old patient who presented with dyspnoea, with Marfan syndrome (MFS) and a previously unreported variant in the fibrillin-1 gene (FBN1), designated c.7016G>C. Prior to identifying the new gene variant, this patient did not meet the revised Ghent criteria for MFS diagnosis. We present clinical and molecular evidence supporting the likely pathogenic nature of this variant, leading to earlier therapy and intervention. DISCUSSION: The discovery of a new pathogenic gene will expand the current aortopathy and MFS database and may lead to more informed clinical management decisions for the timing and nature of interventions.
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spelling pubmed-89728282022-04-01 A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report Suliman, Asem Yan, Weiang Yamashita, Michael H Krentz, Anthony D Mhanni, Aizeddin Garber, Philip J Eur Heart J Case Rep Grand Round BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirming diagnosis, using the revised Ghent criteria. CASE SUMMARY: We identified a 49-year-old patient who presented with dyspnoea, with Marfan syndrome (MFS) and a previously unreported variant in the fibrillin-1 gene (FBN1), designated c.7016G>C. Prior to identifying the new gene variant, this patient did not meet the revised Ghent criteria for MFS diagnosis. We present clinical and molecular evidence supporting the likely pathogenic nature of this variant, leading to earlier therapy and intervention. DISCUSSION: The discovery of a new pathogenic gene will expand the current aortopathy and MFS database and may lead to more informed clinical management decisions for the timing and nature of interventions. Oxford University Press 2022-02-10 /pmc/articles/PMC8972828/ /pubmed/35372756 http://dx.doi.org/10.1093/ehjcr/ytac063 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Grand Round
Suliman, Asem
Yan, Weiang
Yamashita, Michael H
Krentz, Anthony D
Mhanni, Aizeddin
Garber, Philip J
A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
title A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
title_full A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
title_fullStr A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
title_full_unstemmed A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
title_short A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
title_sort previously undescribed pathogenic variant in fbn1 gene causing marfan syndrome: a case report
topic Grand Round
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972828/
https://www.ncbi.nlm.nih.gov/pubmed/35372756
http://dx.doi.org/10.1093/ehjcr/ytac063
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