Extracranial arteriovenous malformations: from bedside to bench

被引:17
作者
Qiao, Congzhen [1 ]
Richter, Gresham T. [2 ,3 ,4 ]
Pan, Weijun [5 ]
Jin, Yunbo [1 ]
Lin, Xiaoxi [1 ]
机构
[1] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Dept Plast & Reconstruct Surg, Sch Med, Shanghai 200011, Peoples R China
[2] Arkansas Childrens Hosp, Ctr Invest Congenital Anomalies Vasc Dev, Arkansas Vasc Biol Program, 800 Marshall St, Little Rock, AR 72202 USA
[3] Univ Arkansas Med Sci, Dept Otolaryngol Head & Neck Surg, Little Rock, AR 72205 USA
[4] Arkansas Childrens Hosp, Div Pediat Otolaryngol, 800 Marshall St, Little Rock, AR 72202 USA
[5] Chinese Acad Sci, Shanghai Inst Biol Sci, CAS Ctr Excellence Mol Cell Sci, Key Lab Stem Cell Biol, Shanghai, Peoples R China
关键词
HEREDITARY HEMORRHAGIC TELANGIECTASIA; ENDOTHELIAL GROWTH-FACTOR; TGF-BETA; VASCULAR ANOMALIES; ALAGILLE-SYNDROME; EXTRACELLULAR-MATRIX; EMBRYONIC LETHALITY; SOMATIC MUTATIONS; SIGNALING PATHWAY; NOTCH3; MUTATIONS;
D O I
10.1093/mutage/gez028
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Arteriovenous malformation (AVM) is defined as a fast-flow vascular anomaly that shunts blood from arteries directly to veins. This short circuit of blood flow contributes to progressive expansion of draining veins, resulting in ischaemia, tissue deformation and in some severe cases, congestive heart failure. Various medical interventions have been employed to treat AVM, however, management of which remains a huge challenge because of its high recurrence rate and lethal complications. Thus, understanding the underlying mechanisms of AVM development and progression will help direct discovery and a potential cure. Here, we summarize current findings in the field of extracranial AVMs with the aim to provide insight into their aetiology and molecular influences, in the hope to pave the way for future treatment.
引用
收藏
页码:299 / 306
页数:8
相关论文
共 108 条
[31]   VEGF neutralization can prevent and normalize arteriovenous malformations in an animal model for hereditary hemorrhagic telangiectasia 2 [J].
Han, Chul ;
Choe, Se-woon ;
Kim, Yong Hwan ;
Acharya, Abhinav P. ;
Keselowsky, Benjamin G. ;
Sorg, Brian S. ;
Lee, Young-Jae ;
Oh, S. Paul .
ANGIOGENESIS, 2014, 17 (04) :823-830
[32]   Evaluation of Terminology for Vascular Anomalies in Current Literature [J].
Hassanein, Aladdin H. ;
Mulliken, John B. ;
Fishman, Steven J. ;
Greene, Arin K. .
PLASTIC AND RECONSTRUCTIVE SURGERY, 2011, 127 (01) :347-351
[33]   VASCULAR SYSTEM DEFECTS AND NEURONAL APOPTOSIS IN MICE LACKING RAS GTPASE-ACTIVATING PROTEIN [J].
HENKEMEYER, M ;
ROSSI, DJ ;
HOLMYARD, DP ;
PURI, MC ;
MBAMALU, G ;
HARPAL, K ;
SHIH, TS ;
JACKS, T ;
PAWSON, T .
NATURE, 1995, 377 (6551) :695-701
[34]   Decrease in VEGF Expression Induces Intussusceptive Vascular Pruning [J].
Hlushchuk, Ruslan ;
Ehrbar, Martin ;
Reichmuth, Philipp ;
Heinimann, Niklas ;
Styp-Rekowska, Beata ;
Escher, Robert ;
Baum, Oliver ;
Lienemann, Philipp ;
Makanya, Andrew ;
Keshet, Eli ;
Djonov, Valentin .
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2011, 31 (12) :2836-U226
[35]   Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors [J].
Hoshino, R ;
Chatani, Y ;
Yamori, T ;
Tsuruo, T ;
Oka, H ;
Yoshida, O ;
Shimada, Y ;
Ari-i, S ;
Wada, H ;
Fujimoto, J ;
Kohno, M .
ONCOGENE, 1999, 18 (03) :813-822
[36]   Expression of Endoglin (CD105) and Endothelial Nitric Oxide Synthase in Head and Neck Arteriovenous Malformations [J].
Hou, Fang ;
Dai, Yuemeng ;
Dornhoffer, James R. ;
Suen, James Y. ;
Fan, Chun-Yang ;
Saad, Ali G. ;
Buckmiller, Lisa M. ;
Richter, Gresham T. .
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY, 2013, 139 (03) :237-243
[37]   Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 [J].
Johnson, DW ;
Berg, JN ;
Baldwin, MA ;
Gallione, CJ ;
Marondel, I ;
Yoon, SJ ;
Stenzel, TT ;
Speer, M ;
PericakVance, MA ;
Diamond, A ;
Guttmacher, AE ;
Jackson, CE ;
Attisano, L ;
Kucherlapati, R ;
Porteous, MEM ;
Marchuk, DA .
NATURE GENETICS, 1996, 13 (02) :189-195
[38]   Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients [J].
Joutel, A ;
Vahedi, K ;
Corpechot, C ;
Troesch, A ;
Chabriat, H ;
Vayssiere, C ;
Cruaud, C ;
Maciazek, J ;
Weissenbach, J ;
Bousser, MG ;
Bach, JF ;
TournierLasserve, E .
LANCET, 1997, 350 (9090) :1511-1515
[39]   Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia [J].
Joutel, A ;
Corpechot, C ;
Ducros, A ;
Vahedi, K ;
Chabriat, H ;
Mouton, P ;
Alamowitch, S ;
Domenga, V ;
Cecillion, M ;
Marechal, E ;
Maciazek, J ;
Vayssiere, C ;
Cruaud, C ;
Cabanis, EA ;
Ruchoux, MM ;
Weissenbach, J ;
Bach, JF ;
Bousser, MG ;
TournierLasserve, E .
NATURE, 1996, 383 (6602) :707-710
[40]   Vascular anomalies in Alagille syndrome - A significant cause of morbidity and mortality [J].
Kamath, BM ;
Spinner, NB ;
Emerick, KM ;
Chudley, AE ;
Booth, C ;
Piccoli, DA ;
Krantz, ID .
CIRCULATION, 2004, 109 (11) :1354-1358