L Spinardi1, G Vornetti2, S De Martino3, R Golfieri3, L Faccioli1, M Pastore Trossello1, C Graziano4, E Mariucci5, A Donti5. 1. From the Neuroradiology Unit (L.S., L.F., M.P.T.). 2. Radiology Unit (G.V., S.D.M., R.G.) gianfranco.vornetti@gmail.com. 3. Radiology Unit (G.V., S.D.M., R.G.). 4. Department of Experimental, Diagnostic and Specialty Medicine, the Department of Medical Genetics (C.G.). 5. Pediatric Cardiology and GUCH Unit (E.M., A.D.), Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Abstract
BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined the intracranial vasculature. The aim of this study was to evaluate the degree of intracranial arterial tortuosity in patients with Marfan syndrome and those with Loeys-Dietz syndrome, and to assess its usefulness in the differential diagnosis. MATERIALS AND METHODS: We performed a retrospective analysis of 68 patients with genetically confirmed Marfan syndrome (n = 36) or Loeys-Dietz syndrome (n = 32), who underwent at least 1 MRA of the brain at our institution. Fifty-two controls were randomly selected among patients who presented with headache and without any known comorbidity. Tortuosity indexes of 4 intracranial arterial segments were measured on a 3D volume-rendered angiogram by using the following formula: [Formula: see text]. RESULTS: Both Marfan syndrome and Loeys-Dietz syndrome showed a significantly higher tortuosity index compared with controls in all examined vessels. The tortuosity index of the vertebrobasilar system showed an excellent interrater reliability (intraclass correlation coefficient, 0.99) and was the strongest independent predictor of Loeys-Dietz syndrome in patients with connective tissue disease (P = .002), with a 97% specificity for this pathology when its value was > 60. CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined the intracranial vasculature. The aim of this study was to evaluate the degree of intracranial arterial tortuosity in patients with Marfan syndrome and those with Loeys-Dietz syndrome, and to assess its usefulness in the differential diagnosis. MATERIALS AND METHODS: We performed a retrospective analysis of 68 patients with genetically confirmed Marfan syndrome (n = 36) or Loeys-Dietz syndrome (n = 32), who underwent at least 1 MRA of the brain at our institution. Fifty-two controls were randomly selected among patients who presented with headache and without any known comorbidity. Tortuosity indexes of 4 intracranial arterial segments were measured on a 3D volume-rendered angiogram by using the following formula: [Formula: see text]. RESULTS: Both Marfan syndrome and Loeys-Dietz syndrome showed a significantly higher tortuosity index compared with controls in all examined vessels. The tortuosity index of the vertebrobasilar system showed an excellent interrater reliability (intraclass correlation coefficient, 0.99) and was the strongest independent predictor of Loeys-Dietz syndrome in patients with connective tissue disease (P = .002), with a 97% specificity for this pathology when its value was > 60. CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
Authors: Romy Franken; Abdelali El Morabit; Vivian de Waard; Janneke Timmermans; Arthur J Scholte; Maarten P van den Berg; Henk Marquering; Nils R N Planken; Aeilko H Zwinderman; Barbara J M Mulder; Maarten Groenink Journal: Int J Cardiol Date: 2015-05-15 Impact factor: 4.164
Authors: Shaine A Morris; Darren B Orbach; Tal Geva; Michael N Singh; Kimberlee Gauvreau; Ronald V Lacro Journal: Circulation Date: 2011-07-05 Impact factor: 29.690
Authors: Bart L Loeys; Harry C Dietz; Alan C Braverman; Bert L Callewaert; Julie De Backer; Richard B Devereux; Yvonne Hilhorst-Hofstee; Guillaume Jondeau; Laurence Faivre; Dianna M Milewicz; Reed E Pyeritz; Paul D Sponseller; Paul Wordsworth; Anne M De Paepe Journal: J Med Genet Date: 2010-07 Impact factor: 6.318
Authors: Linda C Chu; Reham R Haroun; Robert J Beaulieu; James H Black; Harry C Dietz; Elliot K Fishman Journal: J Comput Assist Tomogr Date: 2018 Sep/Oct Impact factor: 1.826
Authors: Aude Beyens; Juliette Albuisson; Annekatrien Boel; Mazen Al-Essa; Waheed Al-Manea; Damien Bonnet; Ozlem Bostan; Odile Boute; Tiffany Busa; Nathalie Canham; Ergun Cil; Paul J Coucke; Margot A Cousin; Majed Dasouki; Julie De Backer; Anne De Paepe; Sofie De Schepper; Deepthi De Silva; Koenraad Devriendt; Inge De Wandele; David R Deyle; Harry Dietz; Sophie Dupuis-Girod; Eudice Fontenot; Björn Fischer-Zirnsak; Alper Gezdirici; Jamal Ghoumid; Fabienne Giuliano; Neus Baena Diéz; Mohammed Z Haider; Joshua S Hardin; Xavier Jeunemaitre; Eric W Klee; Uwe Kornak; Manuel F Landecho; Anne Legrand; Bart Loeys; Stanislas Lyonnet; Helen Michael; Pamela Moceri; Shehla Mohammed; Laura Muiño-Mosquera; Sheela Nampoothiri; Karin Pichler; Katrina Prescott; Anna Rajeb; Maria Ramos-Arroyo; Massimiliano Rossi; Mustafa Salih; Mohammed Z Seidahmed; Elise Schaefer; Elisabeth Steichen-Gersdorf; Sehime Temel; Fahrettin Uysal; Marine Vanhomwegen; Lut Van Laer; Lionel Van Maldergem; David Warner; Andy Willaert; Tom R Collins; Andrea Taylor; Elaine C Davis; Yuri Zarate; Bert Callewaert Journal: Genet Med Date: 2018-01-11 Impact factor: 8.822