Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

被引:4
|
作者
von Hundelshausen, Philipp [1 ,2 ]
Oexle, Konrad [3 ,4 ]
Bidzhekov, Kiril [1 ,2 ]
Schmitt, Martin M. [1 ,2 ]
Hristov, Michael [1 ,2 ]
Blanchet, Xavier [1 ,2 ]
Kaemmerer, Harald [5 ]
Matyas, Gabor [6 ]
Meitinger, Thomas [2 ,3 ,4 ]
Weber, Christian [1 ,2 ]
机构
[1] Univ Munich, Inst Cardiovasc Prevent, D-80336 Munich, Germany
[2] Partner Site Munich Heart Alliance, German Ctr Cardiovasc Res DZHK, Munich, Germany
[3] Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany
[4] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
[5] Tech Univ Munich, German Heart Ctr Munich, Dept Pediat Cardiol & Congenital Heart Defects, D-80290 Munich, Germany
[6] Fdn People Rare Dis, Ctr Cardiovasc Genet & Gene Diagnost, Zurich, Switzerland
关键词
D O I
10.1160/TH14-11-0913
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:668 / 670
页数:3
相关论文
共 50 条
  • [21] Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome
    Wang, M
    Kishnani, P
    DeckerPhillips, M
    Kahler, SG
    Chen, YT
    Godfrey, M
    JOURNAL OF MEDICAL GENETICS, 1996, 33 (09) : 760 - 763
  • [22] Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome
    Summers, KM
    Nataatmadja, M
    Xu, D
    West, MJ
    McGill, JJ
    Whight, C
    Colley, A
    Adès, LC
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 139A (01) : 2 - 8
  • [23] Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome
    Vital, MC
    Mintz-Hittner, HA
    Milewicz, DM
    ARCHIVES OF OPHTHALMOLOGY, 2003, 121 (04) : 579 - 581
  • [24] Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome
    Booms, P
    Cisler, J
    Mathews, KR
    Godfrey, M
    Tiecke, F
    Kaufmann, UC
    Vetter, U
    Hagemeier, C
    Robinson, PN
    CLINICAL GENETICS, 1999, 55 (02) : 110 - 117
  • [25] Splicing mutation in the fibrillin-1 gene associated with neonatal marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia
    Shinawi, M
    Boileau, C
    Brik, R
    Mandel, H
    Bentur, L
    PEDIATRIC PULMONOLOGY, 2005, 39 (04) : 374 - 378
  • [26] Molecular and skeletal characterization of mice with a fibrillin-1 mutation: insight into tissue bioavailability of TGFβ in Marfan syndrome
    Wilson, G.
    Pollock, L.
    Birch, E.
    Parisi, I.
    Duarte, C.
    Stott, B.
    Zarebska, J. M.
    Coveney, C.
    Muhammad, H.
    Vincent, T.
    INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY, 2021, 102 (02) : 124 - 125
  • [27] Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition
    Elshershari, Huda
    Harris, Catharine
    CARDIOLOGY IN THE YOUNG, 2014, 24 (04) : 735 - 738
  • [28] is impaired O-glucosylation of Fibrillin-1 a cause of Marfan syndrome?
    Kegley, Nicholas
    Williamson, Daniel
    Ito, Atsuko
    Haltiwanger, Robert
    GLYCOBIOLOGY, 2021, 31 (12) : 1751 - 1751
  • [29] Is fibrillin-1 the link between ankylosing spondylitis and Marfan's syndrome?
    Fietta, P
    Manganelli, P
    JOURNAL OF RHEUMATOLOGY, 2002, 29 (08) : 1808 - 1808
  • [30] A NEW MISSENSE MUTATION OF FIBRILLIN IN A PATIENT WITH MARFAN-SYNDROME
    HEWETT, DR
    LYNCH, JR
    CHILD, A
    SYKES, BC
    JOURNAL OF MEDICAL GENETICS, 1994, 31 (04) : 338 - 339