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<meta name="keywords" content="C5681115, congenital abnormality, rare combined vascular malformation, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1843197
|
||
ConceptID=C5681115
|
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-->
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rare combined vascular malformation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1843197</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5681115</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
|
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<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458837">ORPHA458837</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39168550">Fibroadipose Vascular Anomaly: Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaikh R</span><br />
|
||
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
|
||
2024 Jun;27(2):100961.
|
||
Epub 2024 Jun 28
|
||
doi: 10.1016/j.tvir.2024.100961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39168550" target="_blank">39168550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28624001">Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SK,
|
||
Drucker NA,
|
||
Gupta AK,
|
||
Marshalleck FE,
|
||
Dalsing MC</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg Venous Lymphat Disord</span>
|
||
2017 Jul;5(4):587-595.
|
||
doi: 10.1016/j.jvsv.2016.10.084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28624001" target="_blank">28624001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15685700">Primary aortoenteric fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saers SJ,
|
||
Scheltinga MR</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2005 Feb;92(2):143-52.
|
||
doi: 10.1002/bjs.4928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15685700" target="_blank">15685700</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rare%20combined%20vascular%20malformation)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (80)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34281706">PIK3CA-related overgrowth spectrum (PROS): new insight in known diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iriarte Fuster A,
|
||
Cerdà Serra P,
|
||
Riera-Mestre A</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2021 Nov 26;157(10):483-488.
|
||
Epub 2021 Jul 16
|
||
doi: 10.1016/j.medcli.2021.03.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34281706" target="_blank">34281706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32960152">Possible Role of the RORC Gene in Primary and Secondary Lymphedema: Review of the Literature and Genetic Study of Two Rare Causative Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michelini S,
|
||
Ricci M,
|
||
Serrani R,
|
||
Stuppia L,
|
||
Beccari T,
|
||
Veselenyiova D,
|
||
Kenanoglu S,
|
||
Barati S,
|
||
Kurti D,
|
||
Baglivo M,
|
||
Basha SH,
|
||
Krajcovic J,
|
||
Dundar M,
|
||
Bertelli M</span><br />
|
||
<span class="medgenPMjournal">Lymphat Res Biol</span>
|
||
2021 Apr;19(2):129-133.
|
||
Epub 2020 Sep 22
|
||
doi: 10.1089/lrb.2020.0030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32960152" target="_blank">32960152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29248125">Aortobronchial and aortoenteric fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weaver ML,
|
||
Black JH 3rd</span><br />
|
||
<span class="medgenPMjournal">Semin Vasc Surg</span>
|
||
2017 Jun-Sep;30(2-3):85-90.
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<div class="nl"><a target="_blank" href="/pubmed/27841771">Comprehensive management of hereditary hemorrhagic telangiectasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lupa MD,
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Wise SK</span><br />
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<span class="medgenPMjournal">Curr Opin Otolaryngol Head Neck Surg</span>
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2017 Feb;25(1):64-68.
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doi: 10.1097/MOO.0000000000000319.
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<span class="bold">PMID: </span><a href="/pubmed/27841771" target="_blank">27841771</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27150172">Pulmonary Arteriovenous Malformations and Risk of Stroke.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Holzer RJ,
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2016 May;34(2):241-6.
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<div class="portlet_content ln"><span class="medgenPMauthor">Reiterer F,
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<span class="medgenPMjournal">Paediatr Respir Rev</span>
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<div class="nl"><a target="_blank" href="/pubmed/37276887">Endovascular Management of Brain Arteriovenous Malformations.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24156861">Endovascular treatment of adult spinal arteriovenous lesions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhary N,
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Pandey AS,
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Gemmete JJ</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/24156861" target="_blank">24156861</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20combined%20vascular%20malformation%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (189)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33070909">Rupture from cavernous internal carotid artery pseudoaneurysm 11 years after transsphenoidal surgery.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morrison T,
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<span class="bold">PMID: </span><a href="/pubmed/33070909" target="_blank">33070909</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27841771">Comprehensive management of hereditary hemorrhagic telangiectasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lupa MD,
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Wise SK</span><br />
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2017 Feb;25(1):64-68.
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<span class="bold">PMID: </span><a href="/pubmed/27841771" target="_blank">27841771</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27150172">Pulmonary Arteriovenous Malformations and Risk of Stroke.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Holzer RJ,
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<div class="nl"><a target="_blank" href="/pubmed/24161472">CLOVES syndrome.</a></div>
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Upton J 3rd</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/24161472" target="_blank">24161472</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34524406">Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maruani A,
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Tavernier E,
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Boccara O,
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Mazereeuw-Hautier J,
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Leducq S,
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Guibaud L,
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Uyanik G,
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Majewski J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20combined%20vascular%20malformation%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (119)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/36087909">A Systematic Review of Non-Galenic Pial Arteriovenous Fistulas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lim J,
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Kuo CC,
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Waqas M,
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Cappuzzo JM,
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Monteiro A,
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Baig AA,
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Snyder KV,
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Davies JM,
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Levy EI,
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Siddiqui AH</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36087909" target="_blank">36087909</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36138501">Endovascular Management of Iatrogenic Renal Vascular Injuries: Case Series and Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mendez P,
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Lineros R,
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Ospina D,
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Ringa M,
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Eyheremendy E</span><br />
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||
<span class="medgenPMjournal">Arch Esp Urol</span>
|
||
2022 Aug;75(6):524-531.
|
||
doi: 10.37554/es-j.arch.esp.urol-20210515-3507-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36138501" target="_blank">36138501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673419">Systematic review of pediatric mandibular arteriovenous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee A,
|
||
Patel NA</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2021 Nov;150:110942.
|
||
Epub 2021 Oct 14
|
||
doi: 10.1016/j.ijporl.2021.110942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673419" target="_blank">34673419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19540181">Efficacy of intra-lesional alcohol injection as alternative and/or complementary treatment of vascular malformations: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasetyono TO,
|
||
Kreshanti P</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2010 Jul;63(7):1071-9.
|
||
Epub 2009 Jun 18
|
||
doi: 10.1016/j.bjps.2009.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19540181" target="_blank">19540181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11506509">Arterio-ureteral fistula--a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergqvist D,
|
||
Pärsson H,
|
||
Sherif A</span><br />
|
||
<span class="medgenPMjournal">Eur J Vasc Endovasc Surg</span>
|
||
2001 Sep;22(3):191-6.
|
||
doi: 10.1053/ejvs.2001.1432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11506509" target="_blank">11506509</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20combined%20vascular%20malformation%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div></div>
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