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<meta name="keywords" content="C0008031, chest discomfort, chest pain, chest pains, pain, chest, pains, chest, sign or symptom, thoracic pain, 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="An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=2992
ConceptID=C0008031
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Chest pain</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2992</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.">C0008031</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Chest Pain; Chest Pains; Pain, Chest; Pains, Chest</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Chest pain (29857009)</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:0100749">HP:0100749</a></td></tr>
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<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">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. [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=C0008031[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=2992">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=2992" ref="ncbi_uid=2992">V</a></span></span><span class="TLline">Chest pain</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/3593" ref="tree=MeSH" title="MedGen record for Constitutional symptom">Constitutional symptom</a></span><ul><li><span class="TLline"><a href="/medgen/45282" ref="tree=MeSH" title="MedGen record for Pain">Pain</a></span><ul><li><span class="matched_ds">Chest pain</span><ul><li><span class="TLline"><a href="/medgen/1929" ref="tree=MeSH" title="MedGen record for Angina pectoris">Angina pectoris</a></span><ul><li><span class="TLline"><a href="/medgen/149267" ref="tree=MeSH" title="MedGen record for Atypical angina">Atypical angina</a></span></li><li><span class="TLline"><a href="/medgen/104771" ref="tree=MeSH" title="MedGen record for Coronary microvascular disorder">Coronary microvascular disorder</a></span></li><li><span class="TLline"><a href="/medgen/296" ref="tree=MeSH" title="MedGen record for Intermediate coronary syndrome">Intermediate coronary syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/295" ref="tree=MeSH" title="MedGen record for Prinzmetal angina">Prinzmetal angina</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87401" ref="tree=MeSH" title="MedGen record for Stable angina">Stable angina</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1708622" ref="tree=MeSH" title="MedGen record for Chest Pain Along Anterior Axillary Line">Chest Pain Along Anterior Axillary Line</a></span><ul><li><span class="TLline"><a href="/medgen/1713010" ref="tree=MeSH" title="MedGen record for Chest Pain Along Left Anterior Axillary Line">Chest Pain Along Left Anterior Axillary Line</a></span></li><li><span class="TLline"><a href="/medgen/1712722" ref="tree=MeSH" title="MedGen record for Chest Pain Along Right Anterior Axillary Line">Chest Pain Along Right Anterior Axillary Line</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1718053" ref="tree=MeSH" title="MedGen record for Chest Pain Along Midclavicular Line">Chest Pain Along Midclavicular Line</a></span><ul><li><span class="TLline"><a href="/medgen/1709876" ref="tree=MeSH" title="MedGen record for Chest Pain Along Left Midclavicular Line">Chest Pain Along Left Midclavicular Line</a></span></li><li><span class="TLline"><a href="/medgen/1715291" ref="tree=MeSH" title="MedGen record for Chest Pain Along Right Midclavicular Line">Chest Pain Along Right Midclavicular Line</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1720212" ref="tree=MeSH" title="MedGen record for Chest Pain Along Sternal Border">Chest Pain Along Sternal Border</a></span><ul><li><span class="TLline"><a href="/medgen/1718840" ref="tree=MeSH" title="MedGen record for Chest Pain Along Left Lower Sternal Border">Chest Pain Along Left Lower Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1710716" ref="tree=MeSH" title="MedGen record for Chest Pain Along Left Middle Sternal Border">Chest Pain Along Left Middle Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1712207" ref="tree=MeSH" title="MedGen record for Chest Pain Along Left Upper Sternal Border">Chest Pain Along Left Upper Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1710211" ref="tree=MeSH" title="MedGen record for Chest Pain Along Right Lower Sternal Border">Chest Pain Along Right Lower Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1714238" ref="tree=MeSH" title="MedGen record for Chest Pain Along Right Middle Sternal Border">Chest Pain Along Right Middle Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1710742" ref="tree=MeSH" title="MedGen record for Chest Pain Along Right Upper Sternal Border">Chest Pain Along Right Upper Sternal Border</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1716512" ref="tree=MeSH" title="MedGen record for Chest Pain in Intercostal Space">Chest Pain in Intercostal Space</a></span><ul><li><span class="TLline"><a href="/medgen/1710640" ref="tree=MeSH" title="MedGen record for Chest Pain in Left Fifth Intercostal Space">Chest Pain in Left Fifth Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1715375" ref="tree=MeSH" title="MedGen record for Chest Pain in Left Fourth Intercostal Space">Chest Pain in Left Fourth Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1713315" ref="tree=MeSH" title="MedGen record for Chest Pain in Left Second Intercostal Space">Chest Pain in Left Second Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1711214" ref="tree=MeSH" title="MedGen record for Chest Pain in Left Third Intercostal Space">Chest Pain in Left Third Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1716534" ref="tree=MeSH" title="MedGen record for Chest Pain in Right Fifth Intercostal Space">Chest Pain in Right Fifth Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1717851" ref="tree=MeSH" title="MedGen record for Chest Pain in Right Fourth Intercostal Space">Chest Pain in Right Fourth Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1717944" ref="tree=MeSH" title="MedGen record for Chest Pain in Right Second Intercostal Space">Chest Pain in Right Second Intercostal Space</a></span></li><li><span class="TLline"><a href="/medgen/1713193" ref="tree=MeSH" title="MedGen record for Chest Pain in Right Third Intercostal Space">Chest Pain in Right Third Intercostal Space</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1709788" ref="tree=MeSH" title="MedGen record for Chest Pain in Sternum">Chest Pain in Sternum</a></span><ul><li><span class="TLline"><a href="/medgen/1709563" ref="tree=MeSH" title="MedGen record for Chest Pain in Lower Sternum">Chest Pain in Lower Sternum</a></span></li><li><span class="TLline"><a href="/medgen/1718125" ref="tree=MeSH" title="MedGen record for Chest Pain in Mid Sternum">Chest Pain in Mid Sternum</a></span></li><li><span class="TLline"><a href="/medgen/1708437" ref="tree=MeSH" title="MedGen record for Chest Pain in Upper Sternum">Chest Pain in Upper Sternum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713975" ref="tree=MeSH" title="MedGen record for Hyperactive Chest Appearance">Hyperactive Chest Appearance</a></span></li><li><span class="TLline"><a href="/medgen/1712768" ref="tree=MeSH" title="MedGen record for No Radiating Chest Pain">No Radiating Chest Pain</a></span></li><li><span class="TLline"><a href="/medgen/99198" ref="tree=MeSH" title="MedGen record for Non-cardiac chest pain">Non-cardiac chest pain</a></span><ul><li><span class="TLline"><a href="/medgen/635120" ref="tree=MeSH" title="MedGen record for Musculoskeletal chest pain">Musculoskeletal chest pain</a></span><ul><li><span class="TLline"><a href="/medgen/1716402" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Costochondral Junction Syndrome">Musculoskeletal Chest Pain due to Costochondral Junction Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1714081" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Costochondritis">Musculoskeletal Chest Pain due to Costochondritis</a></span></li><li><span class="TLline"><a href="/medgen/1711006" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Intercostal Myofascial Injury">Musculoskeletal Chest Pain due to Intercostal Myofascial Injury</a></span></li><li><span class="TLline"><a href="/medgen/1719531" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Myositis">Musculoskeletal Chest Pain due to Myositis</a></span></li><li><span class="TLline"><a href="/medgen/1716283" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Rib Injury">Musculoskeletal Chest Pain due to Rib Injury</a></span></li><li><span class="TLline"><a href="/medgen/1716554" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Slipping Rib Syndrome">Musculoskeletal Chest Pain due to Slipping Rib Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1709162" ref="tree=MeSH" title="MedGen record for Musculoskeletal Chest Pain due to Sternal Injury">Musculoskeletal Chest Pain due to Sternal Injury</a></span></li><li><span class="TLline"><a href="/medgen/898048" ref="tree=MeSH" title="MedGen record for Precordial Catch Syndrome">Precordial Catch Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1715305" ref="tree=MeSH" title="MedGen record for Psychogenic Musculoskeletal Chest Pain">Psychogenic Musculoskeletal Chest Pain</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/3357" ref="tree=MeSH" title="MedGen record for Pleuritic chest pain">Pleuritic chest pain</a></span></li><li><span class="TLline"><a href="/medgen/534414" ref="tree=MeSH" title="MedGen record for Precordial pain">Precordial pain</a></span></li><li><span class="TLline"><a href="/medgen/1716706" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Anterior Axillary Line">Radiating Chest Pain Along Anterior Axillary Line</a></span><ul><li><span class="TLline"><a href="/medgen/1710226" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Left Anterior Axillary Line">Radiating Chest Pain Along Left Anterior Axillary Line</a></span></li><li><span class="TLline"><a href="/medgen/1716220" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Right Anterior Axillary Line">Radiating Chest Pain Along Right Anterior Axillary Line</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1709820" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Midclavicular Line">Radiating Chest Pain Along Midclavicular Line</a></span><ul><li><span class="TLline"><a href="/medgen/1713071" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Left Midclavicular Line">Radiating Chest Pain Along Left Midclavicular Line</a></span></li><li><span class="TLline"><a href="/medgen/1720149" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Right Midclavicular Line">Radiating Chest Pain Along Right Midclavicular Line</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713272" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Sternal Border">Radiating Chest Pain Along Sternal Border</a></span><ul><li><span class="TLline"><a href="/medgen/1710033" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Left Lower Sternal Border">Radiating Chest Pain Along Left Lower Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1712644" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Left Middle Sternal Border">Radiating Chest Pain Along Left Middle Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1718390" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Left Upper Sternal Border">Radiating Chest Pain Along Left Upper Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1709238" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Right Lower Sternal Border">Radiating Chest Pain Along Right Lower Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1717345" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Right Middle Sternal Border">Radiating Chest Pain Along Right Middle Sternal Border</a></span></li><li><span class="TLline"><a href="/medgen/1720570" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain Along Right Upper Sternal Border">Radiating Chest Pain Along Right Upper Sternal Border</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1711088" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Abdomen">Radiating Chest Pain in Abdomen</a></span></li><li><span class="TLline"><a href="/medgen/1711381" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Back">Radiating Chest Pain in Back</a></span></li><li><span class="TLline"><a href="/medgen/1709044" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Left Arm">Radiating Chest Pain in Left Arm</a></span></li><li><span class="TLline"><a href="/medgen/1711701" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Neck">Radiating Chest Pain in Neck</a></span></li><li><span class="TLline"><a href="/medgen/1716794" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Sternum">Radiating Chest Pain in Sternum</a></span><ul><li><span class="TLline"><a href="/medgen/1709082" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Lower Sternum">Radiating Chest Pain in Lower Sternum</a></span></li><li><span class="TLline"><a href="/medgen/1715619" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Mid Sternum">Radiating Chest Pain in Mid Sternum</a></span></li><li><span class="TLline"><a href="/medgen/1717247" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain in Upper Sternum">Radiating Chest Pain in Upper Sternum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1709535" ref="tree=MeSH" title="MedGen record for Radiating Chest Pain to Other Location">Radiating Chest Pain to Other Location</a></span></li><li><span class="TLline"><a href="/medgen/1716224" ref="tree=MeSH" title="MedGen record for Symmetric Chest Appearance">Symmetric Chest Appearance</a></span></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_891"><div><strong>Chinese restaurant syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>891</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.">C0008127</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/891">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_9958"><div><strong>Multiple endocrine neoplasia type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9958</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.">C0025268</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9958">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_45811"><div><strong>Familial Mediterranean fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45811</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.">C0031069</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45811">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82790"><div><strong>Ehlers-Danlos syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82790</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.">C0268338</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features distal joint hypermobility, easy bruising, thin skin, and clubfeet are most often present in those children ascertained without a major complication.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82790">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_140788"><div><strong>Anti-glomerular basement membrane disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140788</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.">C0403529</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Goodpasture syndrome, also known as anti-GBM disease, is a rare autoimmune disease consisting of alveolar hemorrhage and glomerulonephritis secondary to circulating antiglomerular basement membrane (anti-GBM) antibodies. Anti-GBM antibodies are directed against an antigen intrinsic to the alpha-3 chain of type IV collagen (COL4A3; 120070) that is expressed in the GBMs of the glomerular capillary loops and the basal membrane of the pulmonary alveoli. Goodpasture syndrome is suspected in patients with hemoptysis and hematuria and is confirmed by the presence of anti-GBM antibodies in renal biopsy specimens and serum. Patients with human leukocyte antigen HLA-DR15 and HLA-DR4 are susceptible to the development of Goodpasture syndrome. Reported cases of familial Goodpasture syndrome are extremely rare (summary by Angioi et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140788">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331466"><div><strong>Hypertrophic cardiomyopathy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331466</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.">C1833236</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331466">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331754"><div><strong>Hypertrophic cardiomyopathy 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331754</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.">C1834460</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331754">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_330802"><div><strong>Coronary artery disease, autosomal dominant, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330802</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.">C1842247</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Coronary artery disease (CAD) and its most important complication, acute myocardial infarction (MI), are leading causes of death and disability in the developed world. Multiple risk factors for CAD/MI have been identified, including family history, hypertension, hypercholesterolemia, obesity, smoking, and diabetes. Several genomewide scans of affected sib pairs have identified susceptibility loci for CAD, e.g., 607339 and 300464.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/330802">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341987"><div><strong>Familial Mediterranean fever, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341987</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:">C1851347</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341987">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347543"><div><strong>Arrhythmogenic right ventricular dysplasia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347543</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.">C1857777</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.\n\nArrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347543">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346805"><div><strong>Arrhythmogenic right ventricular dysplasia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346805</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.">C1858379</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.\n\nArrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346805">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_350526"><div><strong>Hypertrophic cardiomyopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350526</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.">C1861862</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. </div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350526">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_410079"><div><strong>Autoimmune pulmonary alveolar proteinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410079</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.">C1970472</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002).&#13; Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003).&#13; See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/410079">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436694"><div><strong>Sarcoidosis, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436694</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.">C2676468</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436694">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436962"><div><strong>Hypertrophic cardiomyopathy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436962</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.">C2677506</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436962">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395635"><div><strong>Long QT syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395635</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.">C2678485</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).&#13; For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395635">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394568"><div><strong>Sarcoidosis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394568</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.">C2697310</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_442487"><div><strong>Hypertrophic cardiomyopathy 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442487</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.">C2750472</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/442487">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_445391"><div><strong>Hyper-IgE recurrent infection syndrome 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445391</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.">C2936739</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/445391">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462615"><div><strong>Hypertrophic cardiomyopathy 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462615</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.">C3151265</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462615">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934587"><div><strong>Yao syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934587</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.">C4310620</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934587">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934630"><div><strong>Sudden cardiac failure, alcohol-induced</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934630</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.">C4310663</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/934630">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1643786"><div><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643786</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.">C4551861</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/1643786">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1712001"><div><strong>Arrhythmogenic right ventricular dysplasia, familial, 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1712001</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.">C5394505</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017).&#13; For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1712001">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823999"><div><strong>Cardiac valvular dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823999</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.">C5774226</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020).&#13; For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823999">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-glomerular basement membrane disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arrhythmogenic right ventricular dysplasia 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arrhythmogenic right ventricular dysplasia 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1712001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arrhythmogenic right ventricular dysplasia, familial, 14</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune pulmonary alveolar proteinosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (25)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac valvular dysplasia 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_891" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chinese restaurant syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronary artery disease, autosomal dominant, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial Mediterranean fever</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial Mediterranean fever, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_445391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331754" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 18</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 2A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden cardiac failure, alcohol-induced</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yao 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/37014337">Diagnosis and Treatment of Acute Myocarditis: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ammirati E,
Moslehi JJ</span><br />
<span class="medgenPMjournal">JAMA</span>
2023 Apr 4;329(13):1098-1113.
doi: 10.1001/jama.2023.3371.
<span class="bold">PMID: </span><a href="/pubmed/37014337" target="_blank">37014337</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35166796">Diagnosis and Treatment of Acute Coronary Syndromes: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatt DL,
Lopes RD,
Harrington RA</span><br />
<span class="medgenPMjournal">JAMA</span>
2022 Feb 15;327(7):662-675.
doi: 10.1001/jama.2022.0358.
<span class="bold">PMID: </span><a href="/pubmed/35166796" target="_blank">35166796</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35123084">AGA Clinical Practice Update on the Personalized Approach to the Evaluation and Management of GERD: Expert Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yadlapati R,
Gyawali CP,
Pandolfino JE;
CGIT GERD Consensus Conference Participants</span><br />
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
2022 May;20(5):984-994.e1.
Epub 2022 Feb 2
doi: 10.1016/j.cgh.2022.01.025.
<span class="bold">PMID: </span><a href="/pubmed/35123084" target="_blank">35123084</a><a href="/pmc/articles/PMC9838103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chest%20pain%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 (1581)</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/39515943">Chest Pain-Specific Legal Risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeLaney M,
Siler P</span><br />
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
2025 Feb;43(1):57-65.
Epub 2024 Oct 10
doi: 10.1016/j.emc.2024.05.025.
<span class="bold">PMID: </span><a href="/pubmed/39515943" target="_blank">39515943</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35680185">Care Models for Acute Chest Pain That Improve Outcomes and Efficiency: JACC State-of-the-Art Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dawson LP,
Smith K,
Cullen L,
Nehme Z,
Lefkovits J,
Taylor AJ,
Stub D</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2022 Jun 14;79(23):2333-2348.
doi: 10.1016/j.jacc.2022.03.380.
<span class="bold">PMID: </span><a href="/pubmed/35680185" target="_blank">35680185</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34709879">2021 AHA/ACC/ASE/CHEST/SAEM/SCCT/SCMR Guideline for the Evaluation and Diagnosis of Chest Pain: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gulati M,
Levy PD,
Mukherjee D,
Amsterdam E,
Bhatt DL,
Birtcher KK,
Blankstein R,
Boyd J,
Bullock-Palmer RP,
Conejo T,
Diercks DB,
Gentile F,
Greenwood JP,
Hess EP,
Hollenberg SM,
Jaber WA,
Jneid H,
Joglar JA,
Morrow DA,
O'Connor RE,
Ross MA,
Shaw LJ</span><br />
<span class="medgenPMjournal">Circulation</span>
2021 Nov 30;144(22):e368-e454.
Epub 2021 Oct 28
doi: 10.1161/CIR.0000000000001029.
<span class="bold">PMID: </span><a href="/pubmed/34709879" target="_blank">34709879</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16342831">Diagnosing the cause of chest pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cayley WE Jr</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2005 Nov 15;72(10):2012-21.
<span class="bold">PMID: </span><a href="/pubmed/16342831" target="_blank">16342831</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9401385">Chest pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dey AB,
Sharma S</span><br />
<span class="medgenPMjournal">Natl Med J India</span>
1997 Sep-Oct;10(5):230-4.
<span class="bold">PMID: </span><a href="/pubmed/9401385" target="_blank">9401385</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chest%20pain%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 (15650)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38957056">Chest pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman A</span><br />
<span class="medgenPMjournal">Aust J Gen Pract</span>
2024 Jul;53(7):437-442.
doi: 10.31128/AJGP-04-23-6810.
<span class="bold">PMID: </span><a href="/pubmed/38957056" target="_blank">38957056</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35796146">Evaluation and Diagnosis of Chest Pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beiser DG,
Cifu AS,
Paul J</span><br />
<span class="medgenPMjournal">JAMA</span>
2022 Jul 19;328(3):292-293.
doi: 10.1001/jama.2022.10362.
<span class="bold">PMID: </span><a href="/pubmed/35796146" target="_blank">35796146</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34709879">2021 AHA/ACC/ASE/CHEST/SAEM/SCCT/SCMR Guideline for the Evaluation and Diagnosis of Chest Pain: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gulati M,
Levy PD,
Mukherjee D,
Amsterdam E,
Bhatt DL,
Birtcher KK,
Blankstein R,
Boyd J,
Bullock-Palmer RP,
Conejo T,
Diercks DB,
Gentile F,
Greenwood JP,
Hess EP,
Hollenberg SM,
Jaber WA,
Jneid H,
Joglar JA,
Morrow DA,
O'Connor RE,
Ross MA,
Shaw LJ</span><br />
<span class="medgenPMjournal">Circulation</span>
2021 Nov 30;144(22):e368-e454.
Epub 2021 Oct 28
doi: 10.1161/CIR.0000000000001029.
<span class="bold">PMID: </span><a href="/pubmed/34709879" target="_blank">34709879</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34264599">Costochondritis: Rapid Evidence Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mott T,
Jones G,
Roman K</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2021 Jul 1;104(1):73-78.
<span class="bold">PMID: </span><a href="/pubmed/34264599" target="_blank">34264599</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27255868">Chest Pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dries DJ</span><br />
<span class="medgenPMjournal">Air Med J</span>
2016 May-Jun;35(3):107-10.
Epub 2016 Mar 30
doi: 10.1016/j.amj.2016.02.007.
<span class="bold">PMID: </span><a href="/pubmed/27255868" target="_blank">27255868</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chest%20pain%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 (22115)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35353329">Does the ISCHEMIA Trial Apply to My Patients?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Upadhyaya V,
Gowda SN,
Porto G,
Bavishi CP,
Sardar P,
Bashir R,
Gokceer ME,
Chatterjee S</span><br />
<span class="medgenPMjournal">Curr Cardiol Rep</span>
2022 Jun;24(6):653-657.
Epub 2022 Mar 30
doi: 10.1007/s11886-022-01684-7.
<span class="bold">PMID: </span><a href="/pubmed/35353329" target="_blank">35353329</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34709879">2021 AHA/ACC/ASE/CHEST/SAEM/SCCT/SCMR Guideline for the Evaluation and Diagnosis of Chest Pain: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gulati M,
Levy PD,
Mukherjee D,
Amsterdam E,
Bhatt DL,
Birtcher KK,
Blankstein R,
Boyd J,
Bullock-Palmer RP,
Conejo T,
Diercks DB,
Gentile F,
Greenwood JP,
Hess EP,
Hollenberg SM,
Jaber WA,
Jneid H,
Joglar JA,
Morrow DA,
O'Connor RE,
Ross MA,
Shaw LJ</span><br />
<span class="medgenPMjournal">Circulation</span>
2021 Nov 30;144(22):e368-e454.
Epub 2021 Oct 28
doi: 10.1161/CIR.0000000000001029.
<span class="bold">PMID: </span><a href="/pubmed/34709879" target="_blank">34709879</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34319569">Long COVID, a comprehensive systematic scoping review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Akbarialiabad H,
Taghrir MH,
Abdollahi A,
Ghahramani N,
Kumar M,
Paydar S,
Razani B,
Mwangi J,
Asadi-Pooya AA,
Malekmakan L,
Bastani B</span><br />
<span class="medgenPMjournal">Infection</span>
2021 Dec;49(6):1163-1186.
Epub 2021 Jul 28
doi: 10.1007/s15010-021-01666-x.
<span class="bold">PMID: </span><a href="/pubmed/34319569" target="_blank">34319569</a><a href="/pmc/articles/PMC8317481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29852054">Nicotine replacement therapy versus control for smoking cessation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hartmann-Boyce J,
Chepkin SC,
Ye W,
Bullen C,
Lancaster T</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2018 May 31;5(5):CD000146.
doi: 10.1002/14651858.CD000146.pub5.
<span class="bold">PMID: </span><a href="/pubmed/29852054" target="_blank">29852054</a><a href="/pmc/articles/PMC6353172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26461998">Evaluation and Treatment of Pericarditis: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Imazio M,
Gaita F,
LeWinter M</span><br />
<span class="medgenPMjournal">JAMA</span>
2015 Oct 13;314(14):1498-506.
doi: 10.1001/jama.2015.12763.
<span class="bold">PMID: </span><a href="/pubmed/26461998" target="_blank">26461998</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chest%20pain%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 (9979)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38555461">Associations of triglyceride-glucose (TyG) index with chest pain incidence and mortality among the U.S. population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
Gu Y,
Zhang B</span><br />
<span class="medgenPMjournal">Cardiovasc Diabetol</span>
2024 Mar 30;23(1):111.
doi: 10.1186/s12933-024-02209-y.
<span class="bold">PMID: </span><a href="/pubmed/38555461" target="_blank">38555461</a><a href="/pmc/articles/PMC10981836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30145934">Coronary CT Angiography and 5-Year Risk of Myocardial Infarction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">SCOT-HEART Investigators,
Newby DE,
Adamson PD,
Berry C,
Boon NA,
Dweck MR,
Flather M,
Forbes J,
Hunter A,
Lewis S,
MacLean S,
Mills NL,
Norrie J,
Roditi G,
Shah ASV,
Timmis AD,
van Beek EJR,
Williams MC</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2018 Sep 6;379(10):924-933.
Epub 2018 Aug 25
doi: 10.1056/NEJMoa1805971.
<span class="bold">PMID: </span><a href="/pubmed/30145934" target="_blank">30145934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26407390">Acute presentation of the pregnant patient.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neuberger F,
Nelson-Piercy C</span><br />
<span class="medgenPMjournal">Clin Med (Lond)</span>
2015 Aug;15(4):372-6.
doi: 10.7861/clinmedicine.15-4-372.
<span class="bold">PMID: </span><a href="/pubmed/26407390" target="_blank">26407390</a><a href="/pmc/articles/PMC4952803" target="_blank" class="PubMedFree">Free PMC Article</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/8935612">Chest pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hynes JE</span><br />
<span class="medgenPMjournal">Postgrad Med J</span>
1996 Jul;72(849):443-5.
doi: 10.1136/pgmj.72.849.443.
<span class="bold">PMID: </span><a href="/pubmed/8935612" target="_blank">8935612</a><a href="/pmc/articles/PMC2398510" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chest%20pain%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 (10652)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38326189">Recent advances in cardiovascular risk assessment: The added value of non-invasive anatomic imaging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Selvam PV,
Grandhi GR,
Leucker TM,
Arbab-Zadeh A,
Gulati M,
Blumenthal RS,
Whelton SP</span><br />
<span class="medgenPMjournal">J Cardiovasc Comput Tomogr</span>
2024 Mar-Apr;18(2):113-119.
Epub 2024 Feb 6
doi: 10.1016/j.jcct.2024.01.012.
<span class="bold">PMID: </span><a href="/pubmed/38326189" target="_blank">38326189</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34980173">Society for Cardiovascular Magnetic Resonance perspective on the 2021 AHA/ACC Chest Pain Guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arai AE,
Kwong RY,
Salerno M,
Greenwood JP,
Bucciarelli-Ducci C</span><br />
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
2022 Jan 3;24(1):8.
doi: 10.1186/s12968-021-00835-z.
<span class="bold">PMID: </span><a href="/pubmed/34980173" target="_blank">34980173</a><a href="/pmc/articles/PMC8722020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33743927">Timing and Use of Capsule Endoscopy in the Acute Care Setting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hanscom M,
Singh A</span><br />
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
2021 Apr;31(2):307-316.
Epub 2021 Feb 15
doi: 10.1016/j.giec.2020.12.006.
<span class="bold">PMID: </span><a href="/pubmed/33743927" target="_blank">33743927</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25824358">Unusual chest pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YY,
Su WP,
Fang HY</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2015 May;148(5):e7-9.
Epub 2015 Mar 28
doi: 10.1053/j.gastro.2014.10.048.
<span class="bold">PMID: </span><a href="/pubmed/25824358" target="_blank">25824358</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21120610">Double trouble.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martín M,
Ríos E,
García-Ruíz JM,
Corros C,
Hevia S,
de la Hera JM,
Morís C</span><br />
<span class="medgenPMjournal">Int J Cardiovasc Imaging</span>
2012 Apr;28(4):685-6.
Epub 2010 Dec 1
doi: 10.1007/s10554-010-9758-1.
<span class="bold">PMID: </span><a href="/pubmed/21120610" target="_blank">21120610</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chest%20pain%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 (9698)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/28399647">β-Blockers, Cocaine, and the Unopposed α-Stimulation Phenomenon.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Richards JR,
Hollander JE,
Ramoska EA,
Fareed FN,
Sand IC,
Izquierdo Gómez MM,
Lange RA</span><br />
<span class="medgenPMjournal">J Cardiovasc Pharmacol Ther</span>
2017 May;22(3):239-249.
Epub 2016 Dec 14
doi: 10.1177/1074248416681644.
<span class="bold">PMID: </span><a href="/pubmed/28399647" target="_blank">28399647</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/26547467">Does This Patient With Chest Pain Have Acute Coronary Syndrome?: The Rational Clinical Examination Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fanaroff AC,
Rymer JA,
Goldstein SA,
Simel DL,
Newby LK</span><br />
<span class="medgenPMjournal">JAMA</span>
2015 Nov 10;314(18):1955-65.
doi: 10.1001/jama.2015.12735.
<span class="bold">PMID: </span><a href="/pubmed/26547467" target="_blank">26547467</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26461998">Evaluation and Treatment of Pericarditis: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Imazio M,
Gaita F,
LeWinter M</span><br />
<span class="medgenPMjournal">JAMA</span>
2015 Oct 13;314(14):1498-506.
doi: 10.1001/jama.2015.12763.
<span class="bold">PMID: </span><a href="/pubmed/26461998" target="_blank">26461998</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25965233">Achalasia: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pandolfino JE,
Gawron AJ</span><br />
<span class="medgenPMjournal">JAMA</span>
2015 May 12;313(18):1841-52.
doi: 10.1001/jama.2015.2996.
<span class="bold">PMID: </span><a href="/pubmed/25965233" target="_blank">25965233</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chest%20pain%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 (358)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0008031%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
<li><a href="/gtr/tests?term=C0008031%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0008031%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Chest%20pain" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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