Cargando…

De novo heterozygous pathogenic FBN1 variant in an autopsy case of multiple aneurysms and right renal artery dissection: a case report

BACKGROUND: Marfan syndrome is a potentially fatal inherited autosomal dominant condition impacting the cardiovascular and the skeletal system with an estimated 25% cases caused by sporadic genetic variations. Given the genetic inheritance pattern, an autopsy of probands with Marfan syndrome–associa...

Descripción completa

Detalles Bibliográficos
Autores principales:	MacGowan, Taylor, McClinchey, Taylor, Parcha, Vibhu, Vatta, Matteo, Litovsky, Silvio, Arora, Pankaj, Benson, Paul V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Cardiovascular Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291322/ https://www.ncbi.nlm.nih.gov/pubmed/37378398 http://dx.doi.org/10.3389/fcvm.2023.1170460

Ejemplares similares

Coronary Stent Abscess in the Setting of Arteriovenous Graft Infection following COVID-19: An Autopsy Case Report
por: Butler, Jean Thompson, et al.
Publicado: (2023)

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
por: Torrado, Mario, et al.
Publicado: (2018)

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
por: McInerney‐Leo, Aideen M., et al.
Publicado: (2020)

Trends and Geographic Variation in Acute Respiratory Failure and ARDS Mortality in the United States
por: Parcha, Vibhu, et al.
Publicado: (2021)

Cardiac pathology in COVID-19: a single center autopsy experience
por: Sang, Charlie J., et al.
Publicado: (2021)

A retrospective cohort study of 12,306 pediatric COVID-19 patients in the United States
por: Parcha, Vibhu, et al.
Publicado: (2021)

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation
por: Wang, Shuling, et al.
Publicado: (2017)

Genetic Variants in FBN-1 and Risk for Thoracic Aortic Aneurysm and Dissection
por: Iakoubova, Olga A., et al.
Publicado: (2014)

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
por: Reyes-Hernández, Octavio D., et al.
Publicado: (2016)

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
por: Jin, Hyung Suk, et al.
Publicado: (2017)

Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos
por: Zeng, Yanting, et al.
Publicado: (2018)

Associations of atrial natriuretic peptide with measures of insulin and adipose depots
por: Couch, Catharine A., et al.
Publicado: (2023)

Obesity and Serial NT‐proBNP Levels in Guided Medical Therapy for Heart Failure With Reduced Ejection Fraction: Insights From the GUIDE‐IT Trial
por: Parcha, Vibhu, et al.
Publicado: (2021)

Use of Telepathology to Facilitate COVID-19 Research and Education through an Online COVID-19 Autopsy Biorepository
por: Benson, Paul V., et al.
Publicado: (2021)

Coronary artery bypass graft surgery outcomes in the United States: Impact of the coronavirus disease 2019 (COVID-19) pandemic
por: Parcha, Vibhu, et al.
Publicado: (2021)

Coronary Artery Calcium Score for Personalization of Antihypertensive Therapy: A Pooled Cohort Analysis
por: Parcha, Vibhu, et al.
Publicado: (2021)

Geographic Variation in Racial Disparities in Health and Coronavirus Disease-2019 (COVID-19) Mortality
por: Parcha, Vibhu, et al.
Publicado: (2020)

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
por: Peeters, Silke, et al.
Publicado: (2022)

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection
por: Xu, Shijun, et al.
Publicado: (2019)

Diagnostic and prognostic implications of heart failure with preserved ejection fraction scoring systems
por: Parcha, Vibhu, et al.
Publicado: (2021)

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia
por: Chikkannaiah, Panduranga, et al.
Publicado: (2015)

Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection
por: Pan, Meichen, et al.
Publicado: (2022)

Geleophysic dysplasia caused by a mutation in FBN1: A case report
por: Tao, Ying, et al.
Publicado: (2021)

Life-Threatening Aortic Dissection during Pregnancy: A Case Report of Undiagnosed FBN1-Related Marfan Syndrome at 39 Weeks Gestation
por: Gurrieri, Carmelina, et al.
Publicado: (2023)

Corin Missense Variants, Blood Pressure, and Hypertension in 11 322 Black Individuals: Insights From REGARDS and the Jackson Heart Study
por: Parcha, Vibhu, et al.
Publicado: (2022)

AHA Life's essential 8 and ideal cardiovascular health among young adults
por: Shetty, Naman S., et al.
Publicado: (2022)

The characteristics of thoracic aortic dissection in autopsy-diagnosed individuals: An autopsy study
por: Zhao, Qianhao, et al.
Publicado: (2022)

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
por: Pagnamenta, Alistair T, et al.
Publicado: (2023)

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family
por: Chen, Jing, et al.
Publicado: (2022)

A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations
por: Shan, Yan-Chun, et al.
Publicado: (2021)

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
por: Lin, Jiansheng, et al.
Publicado: (2023)

Autopsy case of aortic dissection after transcatheter aortic valve implantation (TAVI)
por: Losmanova, Tereza, et al.
Publicado: (2018)

Whole exome sequencing identifies FBN1 mutations in two patients with early-onset type B aortic dissection
por: Han, Qian, et al.
Publicado: (2017)

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study
por: de Azevedo, Gustavo Borges Laurindo, et al.
Publicado: (2022)

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
por: Wang, James Jiqi, et al.
Publicado: (2022)

Acute type B aortic dissection with multiple cholesterol embolism: an autopsy case report
por: Yamasaki, Masataka, et al.
Publicado: (2023)

Identification of gross deletions in FBN1 gene by MLPA
por: Yang, Hang, et al.
Publicado: (2018)

Association of gene polymorphisms in FBN1 and TGF-β signaling with the susceptibility and prognostic outcomes of Stanford type B aortic dissection
por: Sun, Ling, et al.
Publicado: (2022)

Molecular cloning, characterization and 3D modelling of spotted snakehead fbn1 C-terminal region encoding asprosin and expression analysis of fbn1
por: Sathoria, Priyanka, et al.
Publicado: (2023)

Intravitreal injection of fibrillin 2 (Fbn2) recombinant protein for therapy of retinopathy in a retina-specific Fbn2 knock-down mouse model
por: Zhang, Rui Xue, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_gos2oe08qmfcirtd43i6q8jdj1