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The role of genetic testing in the prevention of acute aortic dissection

Published on Jun 1, 2018in European Journal of Preventive Cardiology 5.64
· DOI :10.1177/2047487318756433
Davide Carino2
Estimated H-index: 2
(Yale University),
Andrea Agostinelli11
Estimated H-index: 11
(University of Parma)
+ 3 AuthorsFrancesco Nicolini19
Estimated H-index: 19
(University of Parma)
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Abstract
Although much has been learned about disease of the thoracic aorta, most diagnosis of thoracic aortic aneurysm (TAA) is still incidental. The importance of the genetic aspects in thoracic aortic disease is overwhelming, and today different mutations which cause TAA or alter its natural history have been discovered. Technological advance has made available testing which detects genetic mutations linked to TAA. This article analyses the genetic aspects of TAA and describes the possible role of genetic tests in the clinical setting in preventing devastating complications of TAA.
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  • Citations (1)
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References65
Newest
Published on Aug 1, 2017in International Journal of Cardiology 3.47
Wei-Guo Ma10
Estimated H-index: 10
(Yale University),
Alan S. Chou5
Estimated H-index: 5
(Yale University)
+ 7 AuthorsJohn A. Elefteriades54
Estimated H-index: 54
(Yale University)
Abstract Objectives Although family members of patients with aortic dissection (AoD) are believed to be at higher risk of AoD, the prognostic value of family history (FH) of aortic dissection (FHAD) in family members of patients with AoD has not been studied rigorously. We seek examine how much a positive FHAD increases the risk of developing new aortic dissection (AoD) among first-degree relatives. Methods Patients with AoD at our institution were analyzed for information of FHAD. Positive FHAD...
Published on May 1, 2017in European Journal of Cardio-Thoracic Surgery 3.85
Sven Peterss9
Estimated H-index: 9
(LMU: Ludwig Maximilian University of Munich),
Ahmed M. Mansour4
Estimated H-index: 4
(Yale University)
+ 5 AuthorsJohn A. Elefteriades54
Estimated H-index: 54
(Yale University)
OBJECTIVES: The objective of this study is to retrospectively analyse surgical outcomes in patients aged 75-79, and 80 and above. METHODS: Between 2000 and 2015, 108 patients aged 75-79 (G(75), mean age 76.9 +/- 1.5years) and 72 patients aged 80 and above (G(80), mean age 82.2 +/- 2.1years) underwent elective aneurysm repair. Operative outcome and survival was compared with 727 contemporary younger counterparts aged <75 years (G(Ctrl), mean age 56.6 +/- 11.7years). RESULTS: Postoperatively, pati...
Published on Apr 1, 2017in Genetics in Medicine 8.68
Josephina Meester7
Estimated H-index: 7
(University of Antwerp),
Geert Vandeweyer19
Estimated H-index: 19
(University of Antwerp)
+ 20 AuthorsJulie Vogt1
Estimated H-index: 1
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Published on Feb 1, 2017in The Annals of Thoracic Surgery 3.92
Alan S. Chou5
Estimated H-index: 5
(Yale University),
Wei-Guo Ma10
Estimated H-index: 10
(Yale University)
+ 5 AuthorsJohn A. Elefteriades54
Estimated H-index: 54
(Yale University)
Background Prediction of the age at aortic dissection for family members of aortic dissection patients would enhance early detection and clinical management. We sought to determine whether these dissections tend to cluster by age in family members of the dissection patients. Methods Ages at dissection were examined, including 51 sporadic dissectors (one dissection in family) and 39 familial dissectors (two or more dissections in family) from 16 families. Differences between sporadic and familial...
Published on Jul 1, 2016in Clinical Genetics 4.10
Anne Marie Jelsig5
Estimated H-index: 5
(University of Southern Denmark),
Pernille Mathiesen Tørring8
Estimated H-index: 8
(OUH: Odense University Hospital)
+ 7 AuthorsLilian Bomme Ousager13
Estimated H-index: 13
(University of Southern Denmark)
Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4-mutations. The study was a retrospective, register-based study. SMAD4 mutations carriers were identified through the Danish HHT-registry, the genetic laboratories - and the genetic depar...
Published on Apr 1, 2016in Journal of Cardiovascular Surgery 1.06
Dianna M. Milewicz56
Estimated H-index: 56
,
Ellen M. Hostetler6
Estimated H-index: 6
(University of Texas Health Science Center at Houston)
+ 5 AuthorsEllen S. Regalado24
Estimated H-index: 24
Almost one-quarter of patients presenting with thoracic aortic aneurysms (TAAs) or acute aortic dissections (TAADs) have an underlying mutation in a specific gene. A subset of these patients will have systemic syndromic features, for example, skeletal features in patients with Marfan Syndrome. It is important to note that the majority of patients with thoracic aortic disease will not have these syndromic features but many will have a family history of the disease. The genes predisposing to these...
Published on Mar 18, 2016in Circulation Research 15.86
Dongchuan Guo32
Estimated H-index: 32
(University of Texas Health Science Center at Houston),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston)
+ 17 AuthorsRocio Moran16
Estimated H-index: 16
(MetroHealth)
Rationale: Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families. Objectives: To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. Methods and Results: Exome sequencing was used to identify the mutation responsible for a large family with thoracic aortic aneurysms and ...
Published on Mar 1, 2016in Journal of Clinical Investigation 12.28
Shao Qing Kuang7
Estimated H-index: 7
(University of Texas Health Science Center at Houston),
Olga Medina-Martinez7
Estimated H-index: 7
+ 20 AuthorsCallie S. Kwartler11
Estimated H-index: 11
(University of Texas Health Science Center at Houston)
The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional response to these forces. Here, we describe mutations in the forkhead transcription factor FOXE3 that predispose mutation-bearing individuals to TAAD. We performed exome sequencing of a large family with multiple members with TAADs and identified a ...
Published on Jan 1, 2016in Canadian Journal of Cardiology 5.59
Gregor Andelfinger4
Estimated H-index: 4
(Centre Hospitalier Universitaire Sainte-Justine),
Bart Loeys56
Estimated H-index: 56
(Radboud University Nijmegen),
Hal Dietz4
Estimated H-index: 4
(JHUSOM: Johns Hopkins University School of Medicine)
Aortic aneurysms are responsible for a significant number of all deaths in Western countries. In this review we provide a perspective on the important progress made over the past decade in the understanding of the genetics of this condition, with an emphasis on the more frequent forms of vascular smooth muscle and transforming growth factor β (TGF-β) signalling alterations. For several nonsyndromic and syndromic forms of thoracic aortic disease, a genetic basis has now been identified, with 3 ma...
Published on Jan 1, 2016in Human Mutation 4.45
Alessandra Capuano3
Estimated H-index: 3
,
Francesco Bucciotti8
Estimated H-index: 8
+ 8 AuthorsAlfonso Colombatti44
Estimated H-index: 44
Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion of patients, likely due to rare yet undiscovered disease genes. By performing trio-exome sequencing of a 55-year-old male proband presenting with multiple symptoms indicative of a connective disorder, we identified a heterozygous missense alteration i...
Cited By1
Newest
Published on Jul 1, 2019in European Journal of Preventive Cardiology 5.64
Lin Li (John H. Stroger, Jr. Hospital of Cook County), Naser Yamani (Rush University Medical Center)+ 2 AuthorsMuhammad Shariq Usman4
Estimated H-index: 4
(DUHS: Dow University of Health Sciences)
Published on May 1, 2019in European Journal of Preventive Cardiology 5.64
R.J. Vela (UTSW: University of Texas Southwestern Medical Center), Ryan Vela (UTSW: University of Texas Southwestern Medical Center), Pietro Bajona11
Estimated H-index: 11
(Sant'Anna School of Advanced Studies)