Literature DB >> 26005802

Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome.

Romy Franken1, Abdelali El Morabit2, Vivian de Waard3, Janneke Timmermans4, Arthur J Scholte5, Maarten P van den Berg6, Henk Marquering7, Nils R N Planken8, Aeilko H Zwinderman9, Barbara J M Mulder1, Maarten Groenink10.   

Abstract

BACKGROUND: Patients with Marfan syndrome (MFS) have a highly variable occurrence of aortic complications. Aortic tortuosity is often present in MFS and may help to identify patients at risk for aortic complications.
METHODS: 3D-visualization of the total aorta by MR imaging was performed in 211 adult MFS patients (28% with prior aortic root replacement) and 20 controls. A method to assess aortic tortuosity (aortic tortuosity index: ATI) was developed and reproducibility was tested. The relation between ATI and age, and body size and aortic dimensions at baseline was investigated. Relations between ATI at baseline and the occurrence of a clinical endpoint (aortic dissection, and/or aortic surgery) and aortic dilatation rate during 3 years of follow-up were investigated.
RESULTS: ATI intra- and interobserver agreements were excellent (ICC: 0.968 and 0.955, respectively). Mean ATI was higher in 28 age-matched MFS patients than in the controls (1.92 ± 0.2 vs. 1.82 ± 0.1, p=0.048). In the total MFS cohort, mean ATI was 1.87 ± 0.20, and correlated with age (r=0.281, p<0.001), aortic root diameter (r=0.223, p=0.006), and aortic volume expansion rate (r=0.177, p=0.026). After 49.3 ± 8.8 months follow-up, 33 patients met the combined clinical endpoint (7 dissections) with a significantly higher ATI at baseline than patients without endpoint (1.98 ± 0.2 vs. 1.86 ± 0.2, p=0.002). Patients with an ATI>1.95 had a 12.8 times higher probability of meeting the combined endpoint (log rank-test, p<0.001) and a 12.1 times higher probability of developing an aortic dissection (log rank-test, p=0.003) compared to patients with an ATI<1.95.
CONCLUSIONS: Increased ATI is associated with a more severe aortic phenotype in MFS patients.
Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Aorta; Aortic dissection; Magnetic imaging; Marfan syndrome; Tortuosity

Mesh:

Substances:

Year:  2015        PMID: 26005802     DOI: 10.1016/j.ijcard.2015.05.072

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


  19 in total

Review 1.  Arterial tortuosity in genetic arteriopathies.

Authors:  Shaine A Morris
Journal:  Curr Opin Cardiol       Date:  2015-11       Impact factor: 2.161

2.  International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

Authors:  Guillaume Jondeau; Jacques Ropers; Ellen Regalado; Alan Braverman; Arturo Evangelista; Guisela Teixedo; Julie De Backer; Laura Muiño-Mosquera; Sophie Naudion; Cecile Zordan; Takayuki Morisaki; Hiroto Morisaki; Yskert Von Kodolitsch; Sophie Dupuis-Girod; Shaine A Morris; Richmond Jeremy; Sylvie Odent; Leslie C Adès; Madhura Bakshi; Katherine Holman; Scott LeMaire; Olivier Milleron; Maud Langeois; Myrtille Spentchian; Melodie Aubart; Catherine Boileau; Reed Pyeritz; Dianna M Milewicz
Journal:  Circ Cardiovasc Genet       Date:  2016-11-21

3.  Lung Transplantation for FLNA-Associated Progressive Lung Disease.

Authors:  Lindsay C Burrage; R Paul Guillerman; Shailendra Das; Shipra Singh; Deborah A Schady; Shaine A Morris; Magdalena Walkiewicz; Marc G Schecter; Jeffrey S Heinle; Timothy E Lotze; Seema R Lalani; George B Mallory
Journal:  J Pediatr       Date:  2017-04-28       Impact factor: 4.406

4.  Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis.

Authors:  L Spinardi; G Vornetti; S De Martino; R Golfieri; L Faccioli; M Pastore Trossello; C Graziano; E Mariucci; A Donti
Journal:  AJNR Am J Neuroradiol       Date:  2020-08-20       Impact factor: 3.825

5.  Aortic arch tortuosity, a novel biomarker for thoracic aortic disease, is increased in adults with bicuspid aortic valve.

Authors:  Bader Aldeen Alhafez; Van Thi Thanh Truong; Daniel Ocazionez; Sahand Sohrabi; Harleen Sandhu; Anthony Estrera; Hazim J Safi; Artur Evangelista; Lydia Dux-Santoy Hurtado; Andrea Guala; Siddharth K Prakash
Journal:  Int J Cardiol       Date:  2018-10-17       Impact factor: 4.164

Review 6.  Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.

Authors:  Zoltán Szabolcs; Kálmán Benke; Roland Stengl; Bence Ágg; Miklós Pólos; Gábor Mátyás; Gábor Szabó; Béla Merkely; Tamás Radovits
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123

Review 7.  Marfan syndrome.

Authors:  Dianna M Milewicz; Alan C Braverman; Julie De Backer; Shaine A Morris; Catherine Boileau; Irene H Maumenee; Guillaume Jondeau; Arturo Evangelista; Reed E Pyeritz
Journal:  Nat Rev Dis Primers       Date:  2021-09-02       Impact factor: 65.038

8.  Experimental and Mouse-Specific Computational Models of the Fbln4SMKO Mouse to Identify Potential Biomarkers for Ascending Thoracic Aortic Aneurysm.

Authors:  Marisa S Bazzi; Ramin Balouchzadeh; Shawn N Pavey; James D Quirk; Hiromi Yanagisawa; Vijay Vedula; Jessica E Wagenseil; Victor H Barocas
Journal:  Cardiovasc Eng Technol       Date:  2022-01-22       Impact factor: 2.305

9.  Novel 3D light microscopic analysis of IUGR placentas points to a morphological correlate of compensated ischemic placental disease in humans.

Authors:  Eva Haeussner; Christoph Schmitz; Hans-Georg Frank; Franz Edler von Koch
Journal:  Sci Rep       Date:  2016-04-05       Impact factor: 4.379

Review 10.  The Molecular Genetics of Marfan Syndrome.

Authors:  Qiu Du; Dingding Zhang; Yue Zhuang; Qiongrong Xia; Taishen Wen; Haiping Jia
Journal:  Int J Med Sci       Date:  2021-05-27       Impact factor: 3.738

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