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<meta name="keywords" content="C0003486, aa - aortic aneurysm, abdominal aortic aneurysm, ruptured, aneurysm of aorta, aneurysm, aortic, aneurysms, aortic, aortic aneurysm, aortic aneurysm (disease), aortic aneurysm of unspecified site, ruptured, aortic aneurysms, aortic dilatation, bulge in wall of large artery that carries blood away from heart, disease or syndrome, enlarged aorta, finding, ruptured abdominal aortic aneurysm, ruptured aortic aneurysm, ruptured thoracic aneurysm, ruptured thoracic aortic aneurysm, ruptured thoracoabdominal aortic aneurysm, thoracic aortic aneurysm which has ruptured, thoracic aortic aneurysm, ruptured, thoracoabdominal aortic aneurysm, ruptured, 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="Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=362
ConceptID=C0003486
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aortic aneurysm</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>362</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)&#10;Click for more information.">C0003486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Aortic aneurysm (disease)</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Aortic aneurysm (67362008); Aneurysm of aorta (67362008); AA - Aortic aneurysm (67362008)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004942">HP:0004942</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0005160" target="_blank">MONDO:0005160</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>
<div class="portlet mgSection" id="ID_100">
<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">Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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>
<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=C0003486[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=362">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&amp;from_uid=362" ref="ncbi_uid=362">V</a></span></span><span class="TLline">Aortic aneurysm</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><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/233232" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Cardiovascular Disorder">Non-Neoplastic Cardiovascular Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/233247" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Vascular Disorder">Non-Neoplastic Vascular Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/208875" ref="tree=MeSH" title="MedGen record for Arterial disorder">Arterial disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1618" ref="tree=MeSH" title="MedGen record for Aortic disorder">Aortic disorder</a></span><ul><li><span class="matched_ds">Aortic aneurysm</span><ul><li><span class="TLline"><a href="/medgen/56524" ref="tree=MeSH" title="MedGen record for Abdominal aortic aneurysm">Abdominal aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/1634365" ref="tree=MeSH" title="MedGen record for Asymmetric abdominal aortic aneurysm">Asymmetric abdominal aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/137066" ref="tree=MeSH" title="MedGen record for Dissecting Abdominal Aortic Aneurysm">Dissecting Abdominal Aortic Aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1638194" ref="tree=MeSH" title="MedGen record for Fusiform abdominal aortic aneurysm">Fusiform abdominal aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/82690" ref="tree=MeSH" title="MedGen record for Ruptured abdominal aortic aneurysm">Ruptured abdominal aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1630964" ref="tree=MeSH" title="MedGen record for Saccular abdominal aortic aneurysm">Saccular abdominal aortic aneurysm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8151" ref="tree=MeSH" title="MedGen record for Aortic rupture">Aortic rupture</a></span></li><li><span class="TLline"><a href="/medgen/8439" ref="tree=MeSH" title="MedGen record for Dissecting aortic dilatation">Dissecting aortic dilatation</a></span><ul><li><span class="TLline"><a href="/medgen/196449" ref="tree=MeSH" title="MedGen record for Thoracic aortic dissection">Thoracic aortic dissection</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/97904" ref="tree=MeSH" title="MedGen record for ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA">ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA</a></span></li><li><span class="TLline"><a href="/medgen/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462437" ref="tree=MeSH" title="MedGen record for Aneurysm-osteoarthritis syndrome">Aneurysm-osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646567" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 1">Loeys-Dietz syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382398" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 2">Loeys-Dietz syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766676" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 4">Loeys-Dietz syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/395828" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 1">Loeys-Dietz Syndrome Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152854" ref="tree=MeSH" title="MedGen record for Ruptured aortic aneurysm">Ruptured aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/82689" ref="tree=MeSH" title="MedGen record for Thoracic aortic aneurysm which has ruptured">Thoracic aortic aneurysm which has ruptured</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56525" ref="tree=MeSH" title="MedGen record for Thoracic aortic aneurysm">Thoracic aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/852900" ref="tree=MeSH" title="MedGen record for Aortic arch aneurysm">Aortic arch aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/1634994" ref="tree=MeSH" title="MedGen record for Fusiform aortic arch aneurysm">Fusiform aortic arch aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1635821" ref="tree=MeSH" title="MedGen record for Saccular aortic arch aneurysm">Saccular aortic arch aneurysm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/720712" ref="tree=MeSH" title="MedGen record for Aortic root aneurysm">Aortic root aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/163631" ref="tree=MeSH" title="MedGen record for Ascending tubular aorta aneurysm">Ascending tubular aorta aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/1392959" ref="tree=MeSH" title="MedGen record for Dilatation of the sinus of Valsalva">Dilatation of the sinus of Valsalva</a></span></li><li><span class="TLline"><a href="/medgen/1634425" ref="tree=MeSH" title="MedGen record for Fusiform ascending tubular aorta aneurysm">Fusiform ascending tubular aorta aneurysm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/730531" ref="tree=MeSH" title="MedGen record for Descending thoracic aorta aneurysm">Descending thoracic aorta aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/868359" ref="tree=MeSH" title="MedGen record for Fusiform descending thoracic aortic aneurysm">Fusiform descending thoracic aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/868358" ref="tree=MeSH" title="MedGen record for Saccular descending thoracic aortic aneurysm">Saccular descending thoracic aortic aneurysm</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_1413"><div><strong>Alkaptonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1413</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0002066</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1413">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_9799"><div><strong>Osteogenesis imperfecta type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9799</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)&#10;Click for more information.">C0023931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9799">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_104500"><div><strong>Larsen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104500</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)&#10;Click for more information.">C0175778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/104500">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_231160"><div><strong>Shprintzen-Goldberg syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231160</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)&#10;Click for more information.">C1321551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia are also characteristic findings.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/231160">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331400"><div><strong>Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331400</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)&#10;Click for more information.">C1832942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331400">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376231"><div><strong>PHACE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376231</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)&#10;Click for more information.">C1847874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376231">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_342070"><div><strong>Lateral meningocele syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342070</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)&#10;Click for more information.">C1851710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342070">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347474"><div><strong>Temtamy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347474</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)&#10;Click for more information.">C1857512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347474">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346932"><div><strong>MASS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346932</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)&#10;Click for more information.">C1858556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346932">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_435866"><div><strong>Aortic aneurysm, familial thoracic 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435866</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)&#10;Click for more information.">C2673186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/435866">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_382807"><div><strong>Cardiomyopathy, familial restrictive, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382807</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)&#10;Click for more information.">C2676271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/382807">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394125"><div><strong>Fontaine progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394125</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)&#10;Click for more information.">C2676780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394125">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_416526"><div><strong>RIN2 syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416526</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)&#10;Click for more information.">C2751321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MACS syndrome is an autosomal recessive connective tissue disorder named for the variable features of macrocephaly, alopecia, cutis laxa, and scoliosis (summary by Kameli et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416526">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462427"><div><strong>Aortic aneurysm, familial thoracic 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462427</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)&#10;Click for more information.">C3151077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462427">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)&#10;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_762200"><div><strong>Aortic valve disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762200</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)&#10;Click for more information.">C3542024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/762200">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767193"><div><strong>Congenital heart defects, multiple types, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767193</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)&#10;Click for more information.">C3554279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018).&#13; For a discussion of genetic heterogeneity of CHTD, see 306955.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767193">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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)&#10;Click for more information.">C4225317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1377970"><div><strong>Aortic aneurysm, familial thoracic 11, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1377970</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)&#10;Click for more information.">C4479235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1377970">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648498"><div><strong>Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648498</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)&#10;Click for more information.">C4748135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648498">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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)&#10;Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824001"><div><strong>Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824001</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)&#10;Click for more information.">C5774228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) is an autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death (Shankar et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824001">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841272"><div><strong>Intellectual developmental disorder, autosomal dominant 73</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841272</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)&#10;Click for more information.">C5830636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841272">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkaptonuria</a></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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic aneurysm, familial thoracic 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fontaine progeroid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 73</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_104500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Larsen syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral meningocele syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MASS syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PHACE syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RIN2 syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shprintzen-Goldberg syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Temtamy syndrome</a></div></span></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/39210722">2024 ESC Guidelines for the management of peripheral arterial and aortic diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzolai L,
Teixido-Tura G,
Lanzi S,
Boc V,
Bossone E,
Brodmann M,
Bura-Rivière A,
De Backer J,
Deglise S,
Della Corte A,
Heiss C,
Kałużna-Oleksy M,
Kurpas D,
McEniery CM,
Mirault T,
Pasquet AA,
Pitcher A,
Schaubroeck HAI,
Schlager O,
Sirnes PA,
Sprynger MG,
Stabile E,
Steinbach F,
Thielmann M,
van Kimmenade RRJ,
Venermo M,
Rodriguez-Palomares JF;
ESC Scientific Document Group</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2024 Sep 29;45(36):3538-3700.
doi: 10.1093/eurheartj/ehae179.
<span class="bold">PMID: </span><a href="/pubmed/39210722" target="_blank">39210722</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37387260">Pathogenesis and management of abdominal aortic aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Golledge J,
Thanigaimani S,
Powell JT,
Tsao PS</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2023 Aug 1;44(29):2682-2697.
doi: 10.1093/eurheartj/ehad386.
<span class="bold">PMID: </span><a href="/pubmed/37387260" target="_blank">37387260</a><a href="/pmc/articles/PMC10393073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36322642">2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Isselbacher EM,
Preventza O,
Hamilton Black J 3rd,
Augoustides JG,
Beck AW,
Bolen MA,
Braverman AC,
Bray BE,
Brown-Zimmerman MM,
Chen EP,
Collins TJ,
DeAnda A Jr,
Fanola CL,
Girardi LN,
Hicks CW,
Hui DS,
Schuyler Jones W,
Kalahasti V,
Kim KM,
Milewicz DM,
Oderich GS,
Ogbechie L,
Promes SB,
Gyang Ross E,
Schermerhorn ML,
Singleton Times S,
Tseng EE,
Wang GJ,
Woo YJ;
Peer Review Committee Members</span><br />
<span class="medgenPMjournal">Circulation</span>
2022 Dec 13;146(24):e334-e482.
Epub 2022 Nov 2
doi: 10.1161/CIR.0000000000001106.
<span class="bold">PMID: </span><a href="/pubmed/36322642" target="_blank">36322642</a><a href="/pmc/articles/PMC9876736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aortic%20aneurysm%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 (830)</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/36511924">What Is an Abdominal Aortic Aneurysm?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baman JR,
Eskandari MK</span><br />
<span class="medgenPMjournal">JAMA</span>
2022 Dec 13;328(22):2280.
doi: 10.1001/jama.2022.18638.
<span class="bold">PMID: </span><a href="/pubmed/36511924" target="_blank">36511924</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35977132">Abdominal Aortic Aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Haque K,
Bhargava P</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2022 Aug;106(2):165-172.
<span class="bold">PMID: </span><a href="/pubmed/35977132" target="_blank">35977132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34686263">Thoracic Aortic Aneurysm: A Clinical Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Senser EM,
Misra S,
Henkin S</span><br />
<span class="medgenPMjournal">Cardiol Clin</span>
2021 Nov;39(4):505-515.
doi: 10.1016/j.ccl.2021.06.003.
<span class="bold">PMID: </span><a href="/pubmed/34686263" target="_blank">34686263</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30763214">Genetics of Thoracic and Abdominal Aortic Diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pinard A,
Jones GT,
Milewicz DM</span><br />
<span class="medgenPMjournal">Circ Res</span>
2019 Feb 15;124(4):588-606.
doi: 10.1161/CIRCRESAHA.118.312436.
<span class="bold">PMID: </span><a href="/pubmed/30763214" target="_blank">30763214</a><a href="/pmc/articles/PMC6428422" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30370834">Thoracic aortic aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salameh MJ,
Black JH 3rd,
Ratchford EV</span><br />
<span class="medgenPMjournal">Vasc Med</span>
2018 Dec;23(6):573-578.
Epub 2018 Oct 29
doi: 10.1177/1358863X18807760.
<span class="bold">PMID: </span><a href="/pubmed/30370834" target="_blank">30370834</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%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 (23986)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36511924">What Is an Abdominal Aortic Aneurysm?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baman JR,
Eskandari MK</span><br />
<span class="medgenPMjournal">JAMA</span>
2022 Dec 13;328(22):2280.
doi: 10.1001/jama.2022.18638.
<span class="bold">PMID: </span><a href="/pubmed/36511924" target="_blank">36511924</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35977132">Abdominal Aortic Aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Haque K,
Bhargava P</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2022 Aug;106(2):165-172.
<span class="bold">PMID: </span><a href="/pubmed/35977132" target="_blank">35977132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34686263">Thoracic Aortic Aneurysm: A Clinical Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Senser EM,
Misra S,
Henkin S</span><br />
<span class="medgenPMjournal">Cardiol Clin</span>
2021 Nov;39(4):505-515.
doi: 10.1016/j.ccl.2021.06.003.
<span class="bold">PMID: </span><a href="/pubmed/34686263" target="_blank">34686263</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30337541">Abdominal aortic aneurysms.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Nat Rev Dis Primers</span>
2018 Oct 18;4(1):35.
doi: 10.1038/s41572-018-0036-1.
<span class="bold">PMID: </span><a href="/pubmed/30337541" target="_blank">30337541</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8455684">Abdominal aortic aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ernst CB</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
1993 Apr 22;328(16):1167-72.
doi: 10.1056/NEJM199304223281607.
<span class="bold">PMID: </span><a href="/pubmed/8455684" target="_blank">8455684</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%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 (16851)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33274656">The TREO abdominal aortic stent-graft system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boitano L,
Eagleton MJ</span><br />
<span class="medgenPMjournal">Future Cardiol</span>
2021 Aug;17(5):805-810.
Epub 2020 Dec 4
doi: 10.2217/fca-2020-0158.
<span class="bold">PMID: </span><a href="/pubmed/33274656" target="_blank">33274656</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31796345">Small abdominal aortic aneurysms: Has anything changed so far?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galyfos G,
Sigala F,
Mpananis K,
Vouros D,
Kimpizi D,
Theodoropoulos C,
Zografos G,
Filis K</span><br />
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
2020 Nov;30(8):500-504.
Epub 2019 Nov 26
doi: 10.1016/j.tcm.2019.11.006.
<span class="bold">PMID: </span><a href="/pubmed/31796345" target="_blank">31796345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27533160">Acute Aortic Dissection and Intramural Hematoma: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mussa FF,
Horton JD,
Moridzadeh R,
Nicholson J,
Trimarchi S,
Eagle KA</span><br />
<span class="medgenPMjournal">JAMA</span>
2016 Aug 16;316(7):754-63.
doi: 10.1001/jama.2016.10026.
<span class="bold">PMID: </span><a href="/pubmed/27533160" target="_blank">27533160</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25770342">Abdominal aortic aneurysm screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jacob AD,
Barkley PL,
Broadbent KC,
Huynh TT</span><br />
<span class="medgenPMjournal">Semin Roentgenol</span>
2015 Apr;50(2):118-26.
Epub 2014 Oct 23
doi: 10.1053/j.ro.2014.10.003.
<span class="bold">PMID: </span><a href="/pubmed/25770342" target="_blank">25770342</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16325700">Marfan's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Judge DP,
Dietz HC</span><br />
<span class="medgenPMjournal">Lancet</span>
2005 Dec 3;366(9501):1965-76.
doi: 10.1016/S0140-6736(05)67789-6.
<span class="bold">PMID: </span><a href="/pubmed/16325700" target="_blank">16325700</a><a href="/pmc/articles/PMC1513064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%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 (15840)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/27743617">Endovascular versus open repair of abdominal aortic aneurysm in 15-years' follow-up of the UK endovascular aneurysm repair trial 1 (EVAR trial 1): a randomised controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patel R,
Sweeting MJ,
Powell JT,
Greenhalgh RM;
EVAR trial investigators</span><br />
<span class="medgenPMjournal">Lancet</span>
2016 Nov 12;388(10058):2366-2374.
Epub 2016 Oct 12
doi: 10.1016/S0140-6736(16)31135-7.
<span class="bold">PMID: </span><a href="/pubmed/27743617" target="_blank">27743617</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27508946">Population-based study of ruptured abdominal aortic aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Laine MT,
Laukontaus SJ,
Kantonen I,
Venermo M</span><br />
<span class="medgenPMjournal">Br J Surg</span>
2016 Nov;103(12):1634-1639.
Epub 2016 Aug 10
doi: 10.1002/bjs.10200.
<span class="bold">PMID: </span><a href="/pubmed/27508946" target="_blank">27508946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20739199">Open repair for ruptured abdominal aortic aneurysm and the risk of spinal cord ischemia: review of the literature and risk-factor analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peppelenbosch AG,
Vermeulen Windsant IC,
Jacobs MJ,
Tordoir JH,
Schurink GW</span><br />
<span class="medgenPMjournal">Eur J Vasc Endovasc Surg</span>
2010 Nov;40(5):589-95.
Epub 2010 Aug 24
doi: 10.1016/j.ejvs.2010.07.024.
<span class="bold">PMID: </span><a href="/pubmed/20739199" target="_blank">20739199</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16088302">Aortic dissection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prisant LM,
Nalamolu VR</span><br />
<span class="medgenPMjournal">J Clin Hypertens (Greenwich)</span>
2005 Jun;7(6):367-71.
doi: 10.1111/j.1524-6175.2005.04116.x.
<span class="bold">PMID: </span><a href="/pubmed/16088302" target="_blank">16088302</a><a href="/pmc/articles/PMC8109391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14872146">Abdominal aortic aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prisant LM,
Mondy JS 3rd</span><br />
<span class="medgenPMjournal">J Clin Hypertens (Greenwich)</span>
2004 Feb;6(2):85-9.
doi: 10.1111/j.1524-6175.2004.02838.x.
<span class="bold">PMID: </span><a href="/pubmed/14872146" target="_blank">14872146</a><a href="/pmc/articles/PMC8109332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%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 (14462)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38906657">The gender divide in abdominal aortic aneurysm management: A call for equitable screening practices.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Velazquez G,
Freischlag JA</span><br />
<span class="medgenPMjournal">J Vasc Surg</span>
2024 Jul;80(1):114.
doi: 10.1016/j.jvs.2024.03.016.
<span class="bold">PMID: </span><a href="/pubmed/38906657" target="_blank">38906657</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38777549">Revolutionizing aortic aneurysm assessment with artificial intelligence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford SA</span><br />
<span class="medgenPMjournal">J Vasc Surg</span>
2024 Jun;79(6):1401.
doi: 10.1016/j.jvs.2024.01.215.
<span class="bold">PMID: </span><a href="/pubmed/38777549" target="_blank">38777549</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35195805">Advanced ultrasound techniques in arterial diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
Cokkinos D,
Gadani S,
Rafailidis V,
Aschwanden M,
Levitin A,
Szaflarski D,
Kirksey L,
Staub D,
Partovi S</span><br />
<span class="medgenPMjournal">Int J Cardiovasc Imaging</span>
2022 Aug;38(8):1711-1721.
Epub 2022 Feb 23
doi: 10.1007/s10554-022-02558-3.
<span class="bold">PMID: </span><a href="/pubmed/35195805" target="_blank">35195805</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32341133">Cardiogenetics: a primer for the clinical cardiologist.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM,
Savla JJ,
Hisama FM</span><br />
<span class="medgenPMjournal">Heart</span>
2020 Jun;106(12):938-947.
Epub 2020 Apr 27
doi: 10.1136/heartjnl-2019-316241.
<span class="bold">PMID: </span><a href="/pubmed/32341133" target="_blank">32341133</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15501110">Discontinuous, staccato growth of abdominal aortic aneurysms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kurvers H,
Veith FJ,
Lipsitz EC,
Ohki T,
Gargiulo NJ,
Cayne NS,
Suggs WD,
Timaran CH,
Kwon GY,
Rhee SJ,
Santiago C</span><br />
<span class="medgenPMjournal">J Am Coll Surg</span>
2004 Nov;199(5):709-15.
doi: 10.1016/j.jamcollsurg.2004.07.031.
<span class="bold">PMID: </span><a href="/pubmed/15501110" target="_blank">15501110</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%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 (11000)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36177847">The Global and Regional Prevalence of Abdominal Aortic Aneurysms: A Systematic Review and Modeling Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Song P,
He Y,
Adeloye D,
Zhu Y,
Ye X,
Yi Q,
Rahimi K,
Rudan I;
Global Health Epidemiology Research Group (GHERG)</span><br />
<span class="medgenPMjournal">Ann Surg</span>
2023 Jun 1;277(6):912-919.
Epub 2022 Sep 30
doi: 10.1097/SLA.0000000000005716.
<span class="bold">PMID: </span><a href="/pubmed/36177847" target="_blank">36177847</a><a href="/pmc/articles/PMC10174099" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33705940">Incidence and Prevalence of Thoracic Aortic Aneurysms: A Systematic Review and Meta-analysis of Population-Based Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gouveia E Melo R,
Silva Duarte G,
Lopes A,
Alves M,
Caldeira D,
Fernandes E Fernandes R,
Mendes Pedro L</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
2022 Spring;34(1):1-16.
Epub 2021 Mar 8
doi: 10.1053/j.semtcvs.2021.02.029.
<span class="bold">PMID: </span><a href="/pubmed/33705940" target="_blank">33705940</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33674154">Doxycycline is not Effective in Reducing Abdominal Aortic Aneurysm Growth: A Mini Systematic Review and Meta-Analysis of Randomised Controlled Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gouveia E Melo R,
Rodrigues M,
Caldeira D,
Alves M,
Fernandes E Fernandes R,
Mendes Pedro L</span><br />
<span class="medgenPMjournal">Eur J Vasc Endovasc Surg</span>
2021 May;61(5):863-864.
Epub 2021 Mar 2
doi: 10.1016/j.ejvs.2021.01.023.
<span class="bold">PMID: </span><a href="/pubmed/33674154" target="_blank">33674154</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31899100">Editor's Choice - Endovascular vs. Open Repair for Abdominal Aortic Aneurysm: Systematic Review and Meta-analysis of Updated Peri-operative and Long Term Data of Randomised Controlled Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Antoniou GA,
Antoniou SA,
Torella F</span><br />
<span class="medgenPMjournal">Eur J Vasc Endovasc Surg</span>
2020 Mar;59(3):385-397.
Epub 2019 Dec 30
doi: 10.1016/j.ejvs.2019.11.030.
<span class="bold">PMID: </span><a href="/pubmed/31899100" target="_blank">31899100</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30544688">Risk Factors for Abdominal Aortic Aneurysm in Population-Based Studies: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Altobelli E,
Rapacchietta L,
Profeta VF,
Fagnano R</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2018 Dec 10;15(12)
doi: 10.3390/ijerph15122805.
<span class="bold">PMID: </span><a href="/pubmed/30544688" target="_blank">30544688</a><a href="/pmc/articles/PMC6313801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%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 (831)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0003486%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
<li><a href="/gtr/tests?term=C0003486%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
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