@article{8551873,
  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-beta 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-beta 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.}},
  author       = {{Beyens, Aude and Albuisson, Juliette and Boel, Annekatrien and Al-Essa, Mazen and Al-Manea, Waheed and Bonnet, Damien and Bostan, Ozlem and Boute, Odile and Busa, Tiffany and Canham, Nathalie and Cil, Ergun and Coucke, Paul and Cousin, Margot A and Dasouki, Majed and De Backer, Julie and De Paepe, Anne and De Schepper, Sofie and De Silva, Deepthi and Devriendt, Koenraad and De Wandele, Inge and Deyle, David R and Dietz, Harry and Dupuis-Girod, Sophie and Fontenot, Eudice and Fischer-Zirnsak, Björn and Gezdirici, Alper and Ghoumid, Jamal and Giuliano, Fabienne and Baena, Neus and Haider, Mohammed Z and Hardin, Joshua S and Jeunemaitre, Xavier and Klee, Eric W and Kornak, Uwe and Landecho, Manuel F and Legrand, Anne and Loeys, Bart and Lyonnet, Stanislas and Michael, Helen and Moceri, Pamela and Mohammed, Shehla and Muiño Mosquera, Laura and Nampoothiri, Sheela and Pichler, Karin and Prescott, Katrina and Rajeb, Anna and Ramos-Arroyo, Maria and Rossi, Massimiliano and Salih, Mustafa and Seidahmed, Mohammed Z and Schaefer, Elise and Steichen-Gersdorf, Elisabeth and Temel, Sehime and Uysal, Fahrettin and Vanhomwegen, Marine and Van Laer, Lut and Van Maldergem, Lionel and Warner, David and Willaert, Andy and Collins, Tom R and Taylor, Andrea and Davis, Elaine C and Zarate, Yuri and Callewaert, Bert}},
  issn         = {{1098-3600}},
  journal      = {{GENETICS IN MEDICINE}},
  keywords     = {{aneurysm,arterial tortuosity syndrome,electron microscopy,GLUT10,SLC2A10,RECESSIVE CUTIS LAXA,MARFAN-SYNDROME,MUTATIONS,PULMONARY,GLUT10,VESSELS,SYSTEM}},
  language     = {{eng}},
  number       = {{10}},
  pages        = {{1236--1245}},
  title        = {{Arterial tortuosity syndrome : 40 new families and literature review}},
  url          = {{http://doi.org/10.1038/gim.2017.253}},
  volume       = {{20}},
  year         = {{2018}},
}

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