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<meta name="DC.Title" content="Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years" />
<meta name="DC.Identifier" content="10.3174/ajnr.A4762" />
<meta name="DC.Date" content="2016-08-01" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.

MATERIALS AND METHODS: Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.

RESULTS: Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin ( ENG ) mutations and 12.5% in activin receptor-like kinase ( 1ACVRL1 ) mutations.

CONCLUSIONS: Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.

BAVM
:   brain arteriovenous malformation
DVA
:   developmental venous anomaly
HTT
:   hereditary hemorrhagic telangiectasia" />
<meta name="DC.Contributor" content="W. Brinjikji" />
<meta name="DC.Contributor" content="V.N. Iyer" />
<meta name="DC.Contributor" content="V. Yamaki" />
<meta name="DC.Contributor" content="G. Lanzino" />
<meta name="DC.Contributor" content="H.J. Cloft" />
<meta name="DC.Contributor" content="K.R. Thielen" />
<meta name="DC.Contributor" content="K.L. Swanson" />
<meta name="DC.Contributor" content="C.P. Wood" />
<meta name="article:published_time" content="2016-08-01" />
<meta name="article:section" content="ADULT BRAIN" />
<meta name="citation_title" content="Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, &lt;i&gt;P&lt;/i&gt; = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, &lt;i&gt;P&lt;/i&gt; = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin (&lt;i&gt;ENG&lt;/i&gt;) mutations and 12.5% in activin receptor-like kinase (&lt;i&gt;1ACVRL1&lt;/i&gt;) mutations.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.&lt;/p&gt;" />
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<meta name="twitter:title" content="Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.

MATERIALS AND METHODS: Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.

RESULTS: Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin ( ENG ) mutations and 12.5% in activin receptor-like kinase ( 1ACVRL1 ) mutations.

CONCLUSIONS: Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.

BAVM
:   brain arteriovenous malformation
DVA
:   developmental venous anomaly
HTT
:   hereditary hemorrhagic telangiectasia" />
<meta name="og-title" property="og:title" content="Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/37/8/1479" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.

MATERIALS AND METHODS: Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.

RESULTS: Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin ( ENG ) mutations and 12.5% in activin receptor-like kinase ( 1ACVRL1 ) mutations.

CONCLUSIONS: Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.

BAVM
:   brain arteriovenous malformation
DVA
:   developmental venous anomaly
HTT
:   hereditary hemorrhagic telangiectasia" />
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    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">W. Brinjikji</span>, <span class="highwire-citation-author" data-delta="1">V.N. Iyer</span>, <span class="highwire-citation-author" data-delta="2">V. Yamaki</span>, <span class="highwire-citation-author" data-delta="3">G. Lanzino</span>, <span class="highwire-citation-author" data-delta="4">H.J. Cloft</span>, <span class="highwire-citation-author" data-delta="5">K.R. Thielen</span>, <span class="highwire-citation-author" data-delta="6">K.L. Swanson</span> and <span class="highwire-citation-author" data-delta="7">C.P. Wood</span></span></div>
  
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<div id="hw-article-author-popups-top-node-14514--61405425002" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">W. Brinjikji </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.)</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=W.%2BBrinjikji%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Brinjikji%20W&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AW.%2BBrinjikji%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="http://orcid.org/0000-0001-5271-5524" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for W. Brinjikji</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">V.N. Iyer </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Pulmonary and Critical Care Medicine (V.N.I., V.Y.)</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=V.N.%2BIyer%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Iyer%20V&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AV.N.%2BIyer%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="http://orcid.org/0000-0001-6441-9319" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for V.N. 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Cloft </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.)</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=H.J.%2BCloft%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Cloft%20H&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AH.J.%2BCloft%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="http://orcid.org/0000-0003-2590-3815" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for H.J. 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    <div class="highwire-markup"><div xmlns="http://www.w3.org/1999/xhtml" xmlns:xhtml="http://www.w3.org/1999/xhtml" class="section ref-list" id="ref-list-1"><h2 class="">References</h2><ol class="cit-list ref-use-labels"><li><span class="ref-label">1.</span><a class="rev-xref-ref" href="#xref-ref-1-1" title="View reference 1. in text" id="ref-1">↵</a><div class="cit ref-cit ref-journal" id="cit-37.8.1479.1" data-doi="10.1097/GIM.0b013e3182136d32"><div class="cit-metadata"><ol class="cit-auth-list"><li>
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        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 37</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 8 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 Aug 2016 </div></div>
      
      
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Aug 2016, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">37 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(8) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1479-1486; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A4762 </span></div>
  
  
  
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      <div class="highwire-cite-title">Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years</div>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">W.</span> <span class="nlm-surname">Brinjikji</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">V.N.</span> <span class="nlm-surname">Iyer</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">V.</span> <span class="nlm-surname">Yamaki</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">G.</span> <span class="nlm-surname">Lanzino</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">H.J.</span> <span class="nlm-surname">Cloft</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">K.R.</span> <span class="nlm-surname">Thielen</span></span>, <span class="highwire-citation-author" data-delta="6"><span class="nlm-given-names">K.L.</span> <span class="nlm-surname">Swanson</span></span>, <span class="highwire-citation-author" data-delta="7"><span class="nlm-given-names">C.P.</span> <span class="nlm-surname">Wood</span></span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Aug 2016, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">37 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(8) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1479-1486; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A4762 </span></div>
  
  
  
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