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1. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author

Damien Bonnet, Paul Coucke, David R. Deyle, Mohammed Z. Haider, Fahrettin Uysal, Eudice E. Fontenot, Inge De Wandele, Margot A. Cousin, Waheed Al-Manea, Sehime Gulsun Temel, Massimiliano Rossi, Fabienne Giuliano, Sofie De Schepper, Joshua S. Hardin, Mazen Al-Essa, Ergun Cil, N Canham, Majed Dasouki, Harry C. Dietz, Juliette Albuisson, Pamela Moceri, Sophie Dupuis-Girod, Koenraad Devriendt, David Warner, Bart Loeys, Özlem M. Bostan, Andrea Taylor, Neus Baena, Elise Schaefer, Sheela Nampoothiri, Eric W. Klee, Karin Pichler, Elaine C. Davis, Andy Willaert, Odile Boute, Tiffany Busa, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Manuel F. Landecho, Shehla Mohammed, Yuri A. Zarate, Maria Ramos-Arroyo, Tom R. Collins, Aude Beyens, Stanislas Lyonnet, Laura Muiño-Mosquera, Uwe Kornak, Marine Vanhomwegen, Helen Michael, Anna Rajeb, Mohammed Zain Seidahmed, Anne De Paepe, Deepthi De Silva, Bert Callewaert, Elisabeth Steichen-Gersdorf, Lut Van Laer, Annekatrien Boel, Anne Legrand, Xavier Jeunemaitre, Lionel Van Maldergem, Katrina Prescott, Mustafa A. Salih, and Julie De Backer

Subjects
medicine.medical_specialty, Arterial tortuosity syndrome, business.industry, Published Erratum, MEDLINE, medicine.disease, Human genetics, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, medicine, Intensive care medicine, business, 030217 neurology & neurosurgery, Genetics (clinical)
Abstract

In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.

Published
2019
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2. Arterial tortuosity syndrome: 40 new families and literature review

Author

Uwe Kornak, Fabienne Giuliano, Aude Beyens, Mustafa A. Salih, Massimiliano Rossi, Marine Vanhomwegen, Lut Van Laer, Fahrettin Uysal, Koenraad Devriendt, David R. Deyle, Mohammed Z. Haider, Elise Schaefer, Tom R. Collins, Annekatrien Boel, Mazen Al-Essa, Elaine C. Davis, Elisabeth Steichen-Gersdorf, Ergun Cil, Eudice E. Fontenot, Andy Willaert, Bart Loeys, Eric W. Klee, Björn Fischer-Zirnsak, Joshua S. Hardin, Sophie Dupuis-Girod, N Canham, Majed Dasouki, Harry C. Dietz, Laura Muiño-Mosquera, Yuri A. Zarate, Karin Pichler, Xavier Jeunemaitre, Neus Baena Diez, Maria Ramos-Arroyo, Damien Bonnet, Paul Coucke, Waheed Al-Manea, Anne De Paepe, Tiffany Busa, Anna Rajeb, Shehla Mohammed, Odile Boute, Sofie De Schepper, Mohammed Zain Seidahmed, Juliette Albuisson, Andrea Taylor, Deepthi De Silva, Inge De Wandele, Helen Michael, Margot A. Cousin, Sehime Gulsun Temel, Pamela Moceri, Julie De Backer, Lionel Van Maldergem, Stanislas Lyonnet, Özlem M. Bostan, Katrina Prescott, Bert Callewaert, Anne Legrand, David Warner, Sheela Nampoothiri, Alper Gezdirici, Jamal Ghoumid, and Manuel F. Landecho

Subjects
0301 basic medicine, Marfan syndrome, Adult, Joint Instability, Male, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Arterial tortuosity syndrome, Adolescent, Vascular Malformations, Biopsy, Perforation (oil well), Glucose Transport Proteins, Facilitative, Smad2 Protein, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Aneurysm, Transforming Growth Factor beta, medicine, Humans, Diaphragmatic hernia, Child, Genetics (clinical), Vascular tissue, Aorta, Skin, Hernia, Diaphragmatic, Respiratory Distress Syndrome, Newborn, biology, business.industry, Connective Tissue Growth Factor, Infant, Skin Diseases, Genetic, Arteries, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Female, Human medicine, business, Elastin
Abstract

PurposeWe 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.MethodsWe 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.ResultsStenoses, 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.ConclusionOur 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.GENETICS in MEDICINE advance online publication, 11 January 2018; doi:10.1038/gim.2017.253. ispartof: Genetics in Medicine vol:20 issue:10 pages:1236-1245 ispartof: location:United States status: published

Published
2018
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