Arterial tortuosity syndrome: 40 new families and literature review

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

doi:10.1038/gim.2017.253

Back

Arterial tortuosity syndrome: 40 new families and literature review

Journal article

Open access

Peer reviewed

Arterial tortuosity syndrome: 40 new families and literature review

Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, …

Genetics in medicine, Vol.20(10), pp.1236-1245

01/10/2018

DOI: https://doi.org/10.1038/gim.2017.253

PMID: 29323665

Abstract

Adolescent

Adult

Aorta - diagnostic imaging

Aorta - physiopathology

Arteries - abnormalities

Arteries - diagnostic imaging

Arteries - physiopathology

Biopsy

Child

Child, Preschool

Connective Tissue Growth Factor - genetics

Female

Glucose Transport Proteins, Facilitative - genetics

Hernia, Diaphragmatic - genetics

Hernia, Diaphragmatic - physiopathology

Humans

Infant

Joint Instability - epidemiology

Joint Instability - genetics

Joint Instability - physiopathology

Male

Mutation

Pedigree

Respiratory Distress Syndrome, Newborn - genetics

Respiratory Distress Syndrome, Newborn - physiopathology

Skin - pathology

Skin Diseases, Genetic - epidemiology

Skin Diseases, Genetic - genetics

Skin Diseases, Genetic - physiopathology

Smad2 Protein - genetics

Transforming Growth Factor beta - genetics

Vascular Malformations - epidemiology

Vascular Malformations - genetics

Vascular Malformations - physiopathology

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. 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. 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. 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.

Files and links (1)

url

https://doi.org/10.1038/gim.2017.253View

Published (Version of record) Open

Metrics

1 Record Views

See more details

Details

Title: Arterial tortuosity syndrome: 40 new families and literature review
Creators - without role: Aude Beyens - Ghent University Hospital
Juliette Albuisson - Délégation Paris 5
Annekatrien Boel - Ghent University Hospital
Mazen Al-Essa - Kuwait University
Waheed Al-Manea - Security Forces Hospital
Damien Bonnet - Hôpital Necker-Enfants Malades
Ozlem Bostan - Uludağ University
Odile Boute - Hôpital Albert Calmette
Tiffany Busa - Medical Genetics & Functional Genomics
Nathalie Canham - Northwick Park Hospital
Ergun Cil - Uludağ University
Paul J Coucke - Ghent University Hospital
Margot A Cousin - Mayo Clinic in Florida
Majed Dasouki - University of Kansas
Julie De Backer - Ghent University Hospital
Anne De Paepe - Ghent University Hospital
Sofie De Schepper - Ghent University Hospital
Deepthi De Silva - University of Kelaniya
Koenraad Devriendt - Center for Human Genetics, Leuven University Hospital, Leuven, Belgium
Inge De Wandele - Ghent University Hospital
David R Deyle - Mayo Clinic in Florida
Harry Dietz - Johns Hopkins Medicine
Sophie Dupuis-Girod - Hôpital Femme Mère Enfant
Eudice Fontenot - University of Arkansas for Medical Sciences
Björn Fischer-Zirnsak - Charité - Universitätsmedizin Berlin
Alper Gezdirici - İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi
Jamal Ghoumid - Lille’s Cardiology Hospital
Fabienne Giuliano - Raymond Poincaré University Hospital
Neus Baena Diéz - Genetics Laboratory UDIAT Diagnostic Center, Parc Tauli University Hospital, Sabadell, Spain
Mohammed Z Haider - Kuwait University
Joshua S Hardin - Arkansas Children's Hospital
Xavier Jeunemaitre - Délégation Paris 5
Eric W Klee - Mayo Clinic
Uwe Kornak - Charité - Universitätsmedizin Berlin
Manuel F Landecho - Clinica Universidad de Navarra
Anne Legrand - Délégation Paris 5
Bart Loeys - Antwerp University Hospital
Stanislas Lyonnet - Hôpital Necker-Enfants Malades
Helen Michael - Leeds General Infirmary
Pamela Moceri - Centre Hospitalier Universitaire de Nice
Shehla Mohammed - Guy's Hospital
Laura Muiño-Mosquera - Ghent University Hospital
Sheela Nampoothiri - Amrita Institute of Medical Sciences and Research Centre
Karin Pichler - Innsbruck Medical University
Katrina Prescott - Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, United Kingdom
Anna Rajeb - Charité - Universitätsmedizin Berlin
Maria Ramos-Arroyo - Complejo Hospitalario de Navarra
Massimiliano Rossi - Lyon Neuroscience Research Center
Mustafa Salih - King Saud University
Mohammed Z Seidahmed - Security Forces Hospital
Elise Schaefer - Medical Genetics Service, CHU Strasbourg, Strasbourg, France
Elisabeth Steichen-Gersdorf - Innsbruck Medical University
Sehime Temel - Near East University
Fahrettin Uysal - Uludağ University
Marine Vanhomwegen - Ghent University Hospital
Lut Van Laer - Antwerp University Hospital
Lionel Van Maldergem - University of Franche-Comté
David Warner - Arkansas Children's Hospital
Andy Willaert - Ghent University Hospital
Tom R Collins - University of Arkansas for Medical Sciences
Andrea Taylor - A Twist of Fate-ATS, Owasso, Oklahoma, USA
Elaine C Davis - McGill University
Yuri Zarate - Mayo Clinic in Florida
Bert Callewaert - Ghent University Hospital
Publication Details: Genetics in medicine, Vol.20(10), pp.1236-1245
Identifiers: 9948565608331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article