Imperial College London
Alternate

Mr Colin D Bicknell BM MD FRCS

Faculty of Medicine, Department of Surgery & Cancer

Clinical Reader in Vascular Surgery
 
 
 
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Contact

 

+44 (0)20 3312 6428colin.bicknell

 
 
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Location

 

1020Queen Elizabeth the Queen Mother Wing (QEQM)St Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Weerakkody:2018:10.1038/gim.2018.27,
author = {Weerakkody, R and Ross, D and Parry, DA and Ziganshin, B and Vandrovcova, J and Gampawar, P and Abdullah, A and Biggs, J and Dumfarth, J and Ibrahim, Y and Yale, Aortic Institute Data and Repository Team and Bicknell, C and Field, M and Elefteriades, J and Cheshire, N and Aitman, TJ},
doi = {10.1038/gim.2018.27},
journal = {Genetics in Medicine},
pages = {1414--1422},
title = {Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta},
url = {http://dx.doi.org/10.1038/gim.2018.27},
volume = {20},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - PurposeThoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phenotype relationships.MethodsWe used a targeted polymerase chain reaction and next-generation sequencing-based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases.ResultsWe identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4.9% of those successfully sequenced). Almost half of the variants were in nonsyndromic cases with no known family history of aortic disease. Twenty-five variants were within FBN1 and two patients were found to harbor two P/LP variants. Presence of a related syndrome, younger age at presentation, family history of aortic disease, and involvement of the ascending aorta increased the risk of carrying a P/LP variant.ConclusionGiven the poor prognosis of TAAD that is undiagnosed prior to acute rupture or dissection, genetic analysis of both familial and sporadic cases of TAAD will lead to new diagnoses, more informed management, and possibly reduced mortality through earlier, preclinical diagnosis in genetically determined cases and their family members.Genetics in Medicine advance online publication, 15 March 2018; doi:10.1038/gim.2018.27.
AU  - Weerakkody,R
AU  - Ross,D
AU  - Parry,DA
AU  - Ziganshin,B
AU  - Vandrovcova,J
AU  - Gampawar,P
AU  - Abdullah,A
AU  - Biggs,J
AU  - Dumfarth,J
AU  - Ibrahim,Y
AU  - Yale,Aortic Institute Data and Repository Team
AU  - Bicknell,C
AU  - Field,M
AU  - Elefteriades,J
AU  - Cheshire,N
AU  - Aitman,TJ
DO  - 10.1038/gim.2018.27
EP  - 1422
PY  - 2018///
SN  - 1098-3600
SP  - 1414
TI  - Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta
T2  - Genetics in Medicine
UR  - http://dx.doi.org/10.1038/gim.2018.27
UR  - https://www.ncbi.nlm.nih.gov/pubmed/29543232
UR  - http://hdl.handle.net/10044/1/61662
VL  - 20
ER  -
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