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. 2018 Oct;20(10):1236-1245.
doi: 10.1038/gim.2017.253. Epub 2018 Jan 11.

Arterial tortuosity syndrome: 40 new families and literature review

Aude Beyens  1 , Juliette Albuisson  2 , Annekatrien Boel  1 , Mazen Al-Essa  3 , Waheed Al-Manea  4 , Damien Bonnet  5 , Ozlem Bostan  6 , Odile Boute  7 , Tiffany Busa  8 , Nathalie Canham  9 , Ergun Cil  6 , Paul J Coucke  1 , Margot A Cousin  10   11 , Majed Dasouki  12 , Julie De Backer  1   13 , Anne De Paepe  1 , Sofie De Schepper  14 , Deepthi De Silva  15   16 , Koenraad Devriendt  17 , Inge De Wandele  1 , David R Deyle  10   18   19 , Harry Dietz  20 , Sophie Dupuis-Girod  21 , Eudice Fontenot  22 , Björn Fischer-Zirnsak  23 , Alper Gezdirici  24 , Jamal Ghoumid  25 , Fabienne Giuliano  26 , Neus Baena Diéz  27 , Mohammed Z Haider  3 , Joshua S Hardin  28 , Xavier Jeunemaitre  2 , Eric W Klee  10   11   18 , Uwe Kornak  23 , Manuel F Landecho  29 , Anne Legrand  2 , Bart Loeys  30 , Stanislas Lyonnet  5 , Helen Michael  31 , Pamela Moceri  32 , Shehla Mohammed  33 , Laura Muiño-Mosquera  1 , Sheela Nampoothiri  34 , Karin Pichler  35 , Katrina Prescott  36 , Anna Rajeb  23 , Maria Ramos-Arroyo  37 , Massimiliano Rossi  38 , Mustafa Salih  39 , Mohammed Z Seidahmed  4 , Elise Schaefer  40 , Elisabeth Steichen-Gersdorf  35 , Sehime Temel  41   42   43 , Fahrettin Uysal  6 , Marine Vanhomwegen  1 , Lut Van Laer  30 , Lionel Van Maldergem  44 , David Warner  28 , Andy Willaert  1 , Tom R Collins  22 , Andrea Taylor  45 , Elaine C Davis  46 , Yuri Zarate  10 , Bert Callewaert  47
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Free article

Arterial tortuosity syndrome: 40 new families and literature review

Aude Beyens et al. Genet Med. 2018 Oct.
Free article

Erratum in

  • Correction: Arterial tortuosity syndrome: 40 new families and literature review.
    Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3. Genet Med. 2019. PMID: 30201961

Abstract

Purpose: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.

Methods: We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF.

Results: Stenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-β signaling.

Conclusion: Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.

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