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<!--
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UID=480821
|
||
ConceptID=C3279191
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Arterial tortuosity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480821</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.">C3279191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Arterial tortuosity, general</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005116">HP:0005116</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Abnormal tortuous (i.e., twisted) form of arteries. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279191[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=480821">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=480821" ref="ncbi_uid=480821">V</a></span></span><span class="TLline">Arterial tortuosity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892767" ref="tree=MeSH" title="MedGen record for Abnormal systemic arterial morphology">Abnormal systemic arterial morphology</a></span><ul><li><span class="matched_ds">Arterial tortuosity</span><ul><li><span class="TLline"><a href="/medgen/322965" ref="tree=MeSH" title="MedGen record for Generalized arterial tortuosity">Generalized arterial tortuosity</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_154270"><div><strong>Multiple self-healing squamous epithelioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154270</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.">C0546476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382398"><div><strong>Loeys-Dietz syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382398</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:">C2674574</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382398">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462437"><div><strong>Aneurysm-osteoarthritis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462437</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.">C3151087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482428"><div><strong>Cutis laxa, autosomal recessive, type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482428</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.">C3280798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766676"><div><strong>Loeys-Dietz syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766676</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.">C3553762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646567"><div><strong>Loeys-Dietz syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646567</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.">C4551955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646567">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794165"><div><strong>VISS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794165</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.">C5561955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794165">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794251"><div><strong>Loeys-Dietz syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794251</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.">C5562041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794251">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aneurysm-osteoarthritis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal recessive, type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_154270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple self-healing squamous epithelioma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VISS syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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/39016117">Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasparini S,
|
||
Balestrini S,
|
||
Saccaro LF,
|
||
Bacci G,
|
||
Panichella G,
|
||
Montomoli M,
|
||
Cantalupo G,
|
||
Bigoni S,
|
||
Mancano G,
|
||
Pellacani S,
|
||
Leuzzi V,
|
||
Volpi N,
|
||
Mari F,
|
||
Melani F,
|
||
Cavallin M,
|
||
Pisano T,
|
||
Porcedda G,
|
||
Vaglio A,
|
||
Mei D,
|
||
Barba C,
|
||
Parrini E,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32099.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1002/ajmg.c.32099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39016117" target="_blank">39016117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
|
||
Dordoni C,
|
||
Chiarelli N,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):6-22.
|
||
doi: 10.1002/ajmg.c.31429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25604859">Clinical utility gene card for: Arterial tortuosity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albuisson J,
|
||
Moceri P,
|
||
Flori E,
|
||
Belli E,
|
||
Gronier C,
|
||
Jeunemaitre X</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Oct;23(10):1432.
|
||
Epub 2015 Jan 21
|
||
doi: 10.1038/ejhg.2014.294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25604859" target="_blank">25604859</a><a href="/pmc/articles/PMC4592088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22arterial%20tortuosity%22%5Btiab%3A~0%5D)%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 (9)</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/38471700">Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma H,
|
||
Verma PK,
|
||
Rajvanshi N,
|
||
Bhat NK</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2024 Mar 12;17(3)
|
||
doi: 10.1136/bcr-2023-256740.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38471700" target="_blank">38471700</a><a href="/pmc/articles/PMC10936529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33811889">Late Outcomes After Pulmonary Arterial Reconstruction in Patients With Arterial Tortuosity Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Khaldi A,
|
||
Momenah T,
|
||
Alsahari A,
|
||
Alotay A,
|
||
Alfonso JJ,
|
||
Abuzaid A,
|
||
Alwadai A</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2022 May;113(5):1569-1574.
|
||
Epub 2021 Apr 1
|
||
doi: 10.1016/j.athoracsur.2021.03.063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33811889" target="_blank">33811889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29742657">Obstetric Management of Loeys-Dietz Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo ML,
|
||
Sukhavasi N,
|
||
Mathur V,
|
||
Morris SA</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2018 Jun;131(6):1080-1084.
|
||
doi: 10.1097/AOG.0000000000002615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29742657" target="_blank">29742657</a><a href="/pmc/articles/PMC5970074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27960158">Risk Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uehara T,
|
||
Bang OY,
|
||
Kim JS,
|
||
Minematsu K,
|
||
Sacco R</span><br />
|
||
<span class="medgenPMjournal">Front Neurol Neurosci</span>
|
||
2016;40:47-57.
|
||
Epub 2016 Dec 2
|
||
doi: 10.1159/000448301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27960158" target="_blank">27960158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26398550">Arterial tortuosity in genetic arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris SA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2015 Nov;30(6):587-93.
|
||
doi: 10.1097/HCO.0000000000000218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26398550" target="_blank">26398550</a><a href="/pmc/articles/PMC4624847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arterial%20tortuosity%22%20AND%20Etiology%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 (167)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662564">Clinical features and complications of Loeys-Dietz syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gouda P,
|
||
Kay R,
|
||
Habib M,
|
||
Aziz A,
|
||
Aziza E,
|
||
Welsh R</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2022 Sep 1;362:158-167.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1016/j.ijcard.2022.05.065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662564" target="_blank">35662564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31693575">Genetics of syndromic and nonsyndromic aortopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigelsky CM,
|
||
Moran RT</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2019 Dec;31(6):694-701.
|
||
doi: 10.1097/MOP.0000000000000836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693575" target="_blank">31693575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30852920">Arterial Tortuosity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ciurică S,
|
||
Lopez-Sublet M,
|
||
Loeys BL,
|
||
Radhouani I,
|
||
Natarajan N,
|
||
Vikkula M,
|
||
Maas AHEM,
|
||
Adlam D,
|
||
Persu A</span><br />
|
||
<span class="medgenPMjournal">Hypertension</span>
|
||
2019 May;73(5):951-960.
|
||
doi: 10.1161/HYPERTENSIONAHA.118.11647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30852920" target="_blank">30852920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27651409">Arterial tortuosity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehrabi E,
|
||
Khan K,
|
||
Malik SA</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2016 Sep 20;2016
|
||
doi: 10.1136/bcr-2016-217029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27651409" target="_blank">27651409</a><a href="/pmc/articles/PMC5030525" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24443023">Loeys-Dietz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Laer L,
|
||
Dietz H,
|
||
Loeys B</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2014;802:95-105.
|
||
doi: 10.1007/978-94-007-7893-1_7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24443023" target="_blank">24443023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arterial%20tortuosity%22%20AND%20Diagnosis%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 (149)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39960948">Cervical arteries tortuosity and its association with dissection: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bitar A,
|
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Almahder D,
|
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A Jouini J,
|
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Alsaid B</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
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2025 Feb 14;104(7):e41517.
|
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doi: 10.1097/MD.0000000000041517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39960948" target="_blank">39960948</a><a href="/pmc/articles/PMC11835062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35369646">Arterial Tortuosity and Its Correlation with White Matter Hyperintensities in Acute Ischemic Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shang K,
|
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Chen X,
|
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Cheng C,
|
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Luo X,
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Xu S,
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Wang W,
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Liu C</span><br />
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<span class="medgenPMjournal">Neural Plast</span>
|
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2022;2022:4280410.
|
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Epub 2022 Mar 24
|
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doi: 10.1155/2022/4280410.
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<span class="bold">PMID: </span><a href="/pubmed/35369646" target="_blank">35369646</a><a href="/pmc/articles/PMC8970938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31621376">Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boel A,
|
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Veszelyi K,
|
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Németh CE,
|
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Beyens A,
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Willaert A,
|
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Coucke P,
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Callewaert B,
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Margittai É</span><br />
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<span class="medgenPMjournal">Antioxid Redox Signal</span>
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2021 Apr 10;34(11):875-889.
|
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Epub 2019 Nov 14
|
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doi: 10.1089/ars.2019.7843.
|
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<span class="bold">PMID: </span><a href="/pubmed/31621376" target="_blank">31621376</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29323665">Arterial tortuosity syndrome: 40 new families and literature review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Beyens A,
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Albuisson J,
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Boel A,
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Al-Essa M,
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Al-Manea W,
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Bonnet D,
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Bostan O,
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Boute O,
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Busa T,
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Canham N,
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Cil E,
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Coucke PJ,
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Cousin MA,
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Dasouki M,
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De Backer J,
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De Paepe A,
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De Schepper S,
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De Silva D,
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Devriendt K,
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De Wandele I,
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Deyle DR,
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Dietz H,
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Dupuis-Girod S,
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Fontenot E,
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Fischer-Zirnsak B,
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Gezdirici A,
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Ghoumid J,
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Giuliano F,
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Diéz NB,
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Haider MZ,
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Hardin JS,
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Jeunemaitre X,
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Klee EW,
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Kornak U,
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Landecho MF,
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Legrand A,
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Loeys B,
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Lyonnet S,
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Michael H,
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Moceri P,
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Mohammed S,
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Muiño-Mosquera L,
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Nampoothiri S,
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Pichler K,
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Prescott K,
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Rajeb A,
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Ramos-Arroyo M,
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Rossi M,
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Salih M,
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Seidahmed MZ,
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Schaefer E,
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Steichen-Gersdorf E,
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Temel S,
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Uysal F,
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Vanhomwegen M,
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Van Laer L,
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Van Maldergem L,
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Warner D,
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Willaert A,
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Collins TR,
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Taylor A,
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Davis EC,
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<span class="medgenPMjournal">Genet Med</span>
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2018 Oct;20(10):1236-1245.
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<span class="bold">PMID: </span><a href="/pubmed/29323665" target="_blank">29323665</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/24443023">Loeys-Dietz syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Van Laer L,
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Dietz H,
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Loeys B</span><br />
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
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2014;802:95-105.
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<span class="bold">PMID: </span><a href="/pubmed/24443023" target="_blank">24443023</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arterial%20tortuosity%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 (32)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33811889">Late Outcomes After Pulmonary Arterial Reconstruction in Patients With Arterial Tortuosity Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Khaldi A,
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Momenah T,
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Alsahari A,
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Alotay A,
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Alfonso JJ,
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Abuzaid A,
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Alwadai A</span><br />
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<span class="medgenPMjournal">Ann Thorac Surg</span>
|
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2022 May;113(5):1569-1574.
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Epub 2021 Apr 1
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doi: 10.1016/j.athoracsur.2021.03.063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33811889" target="_blank">33811889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29534984">Fibromuscular Dysplasia: Contemporary Concepts and Future Directions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narula N,
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Kadian-Dodov D,
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Olin JW</span><br />
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<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
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2018 Mar-Apr;60(6):580-585.
|
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Epub 2018 Mar 10
|
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doi: 10.1016/j.pcad.2018.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29534984" target="_blank">29534984</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28829359">GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gamberucci A,
|
||
Marcolongo P,
|
||
Németh CE,
|
||
Zoppi N,
|
||
Szarka A,
|
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Chiarelli N,
|
||
Hegedűs T,
|
||
Ritelli M,
|
||
Carini G,
|
||
Willaert A,
|
||
Callewaert BL,
|
||
Coucke PJ,
|
||
Benedetti A,
|
||
Margittai É,
|
||
Fulceri R,
|
||
Bánhegyi G,
|
||
Colombi M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2017 Aug 22;18(8)
|
||
doi: 10.3390/ijms18081820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28829359" target="_blank">28829359</a><a href="/pmc/articles/PMC5578206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26398550">Arterial tortuosity in genetic arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris SA</span><br />
|
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<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2015 Nov;30(6):587-93.
|
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doi: 10.1097/HCO.0000000000000218.
|
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<span class="bold">PMID: </span><a href="/pubmed/26398550" target="_blank">26398550</a><a href="/pmc/articles/PMC4624847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16928994">Aneurysm syndromes caused by mutations in the TGF-beta receptor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loeys BL,
|
||
Schwarze U,
|
||
Holm T,
|
||
Callewaert BL,
|
||
Thomas GH,
|
||
Pannu H,
|
||
De Backer JF,
|
||
Oswald GL,
|
||
Symoens S,
|
||
Manouvrier S,
|
||
Roberts AE,
|
||
Faravelli F,
|
||
Greco MA,
|
||
Pyeritz RE,
|
||
Milewicz DM,
|
||
Coucke PJ,
|
||
Cameron DE,
|
||
Braverman AC,
|
||
Byers PH,
|
||
De Paepe AM,
|
||
Dietz HC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2006 Aug 24;355(8):788-98.
|
||
doi: 10.1056/NEJMoa055695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16928994" target="_blank">16928994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arterial%20tortuosity%22%20AND%20Prognosis%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 (84)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37963951">Association between arterial tortuosity and early neurological deterioration in lenticulostriate artery infarction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ha SH,
|
||
Jeong S,
|
||
Park JY,
|
||
Chang JY,
|
||
Kang DW,
|
||
Kwon SU,
|
||
Kim JS,
|
||
Kim BJ</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Nov 14;13(1):19865.
|
||
doi: 10.1038/s41598-023-47281-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37963951" target="_blank">37963951</a><a href="/pmc/articles/PMC10646100" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662564">Clinical features and complications of Loeys-Dietz syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gouda P,
|
||
Kay R,
|
||
Habib M,
|
||
Aziz A,
|
||
Aziza E,
|
||
Welsh R</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2022 Sep 1;362:158-167.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1016/j.ijcard.2022.05.065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662564" target="_blank">35662564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28829359">GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gamberucci A,
|
||
Marcolongo P,
|
||
Németh CE,
|
||
Zoppi N,
|
||
Szarka A,
|
||
Chiarelli N,
|
||
Hegedűs T,
|
||
Ritelli M,
|
||
Carini G,
|
||
Willaert A,
|
||
Callewaert BL,
|
||
Coucke PJ,
|
||
Benedetti A,
|
||
Margittai É,
|
||
Fulceri R,
|
||
Bánhegyi G,
|
||
Colombi M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2017 Aug 22;18(8)
|
||
doi: 10.3390/ijms18081820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28829359" target="_blank">28829359</a><a href="/pmc/articles/PMC5578206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26398550">Arterial tortuosity in genetic arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris SA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2015 Nov;30(6):587-93.
|
||
doi: 10.1097/HCO.0000000000000218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26398550" target="_blank">26398550</a><a href="/pmc/articles/PMC4624847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16928994">Aneurysm syndromes caused by mutations in the TGF-beta receptor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loeys BL,
|
||
Schwarze U,
|
||
Holm T,
|
||
Callewaert BL,
|
||
Thomas GH,
|
||
Pannu H,
|
||
De Backer JF,
|
||
Oswald GL,
|
||
Symoens S,
|
||
Manouvrier S,
|
||
Roberts AE,
|
||
Faravelli F,
|
||
Greco MA,
|
||
Pyeritz RE,
|
||
Milewicz DM,
|
||
Coucke PJ,
|
||
Cameron DE,
|
||
Braverman AC,
|
||
Byers PH,
|
||
De Paepe AM,
|
||
Dietz HC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2006 Aug 24;355(8):788-98.
|
||
doi: 10.1056/NEJMoa055695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16928994" target="_blank">16928994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arterial%20tortuosity%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 (98)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39960948">Cervical arteries tortuosity and its association with dissection: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bitar A,
|
||
Almahder D,
|
||
A Jouini J,
|
||
Alsaid B</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2025 Feb 14;104(7):e41517.
|
||
doi: 10.1097/MD.0000000000041517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39960948" target="_blank">39960948</a><a href="/pmc/articles/PMC11835062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39048760">Risk Factors for Cerebral Vasospasm After Subarachnoid Hemorrhage: A Systematic Review of Observational Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawakul A,
|
||
Alluqmani MM,
|
||
Badawi AS,
|
||
Alawfi AK,
|
||
Alharbi EK,
|
||
Aljohani SA,
|
||
Mogharbel GH,
|
||
Alahmadi HA,
|
||
Khawaji ZY</span><br />
|
||
<span class="medgenPMjournal">Neurocrit Care</span>
|
||
2024 Dec;41(3):1081-1099.
|
||
Epub 2024 Jul 24
|
||
doi: 10.1007/s12028-024-02059-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39048760" target="_blank">39048760</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36932210">Moynihan's hump of the right hepatic artery in Calot's triangle: a systematic review and meta-analysis of its incidence and surgical importance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asghar A,
|
||
Priya A,
|
||
Patra A,
|
||
Gupta P,
|
||
Kumar A</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2023 May;45(5):643-651.
|
||
Epub 2023 Mar 17
|
||
doi: 10.1007/s00276-023-03125-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36932210" target="_blank">36932210</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662564">Clinical features and complications of Loeys-Dietz syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gouda P,
|
||
Kay R,
|
||
Habib M,
|
||
Aziz A,
|
||
Aziza E,
|
||
Welsh R</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2022 Sep 1;362:158-167.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1016/j.ijcard.2022.05.065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662564" target="_blank">35662564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34469862">The mechanobiological theory: a unifying hypothesis on the pathogenesis of moyamoya disease based on a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sudhir BJ,
|
||
Keelara AG,
|
||
Venkat EH,
|
||
Kazumata K,
|
||
Sundararaman A</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2021 Sep;51(3):E6.
|
||
doi: 10.3171/2021.6.FOCUS21281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34469862" target="_blank">34469862</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arterial%20tortuosity%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
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<div class=" bottom">
|
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|
||
</div>
|
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|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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<!-- MedGen supplemental column starts here -->
|
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3279191%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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<li><a href="/gtr/tests?term=C3279191%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3279191%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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