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<meta name="keywords" content="C0151878, electrocardiogram qt prolonged, finding, increased qt interval, long q-t syndrome, long qt syndrome, prolong qt interval, prolong qt interval on ekg, prolonged qt, prolonged qt interval, prolonged qt interval by ecg finding, prolonged qt interval by ekg finding, prolonged qt interval on ekg, 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="Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Prolonged QT interval (Concept Id: C0151878)
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<!--
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||
UID=57494
|
||
ConceptID=C0151878
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Prolonged QT interval</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57494</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0151878</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Electrocardiogram QT Prolonged</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Prolonged QT interval (111975006); Increased QT interval (111975006)</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:0001657">HP:0001657</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_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>
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||
<div class="portlet_content ln">Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0151878[DISCUI]&test_type=Clinical" ref="ncbi_uid=57494">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=57494" ref="ncbi_uid=57494">V</a></span></span><span class="TLline">Prolonged QT interval</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1715859" ref="tree=MeSH" title="MedGen record for Abnormal Cardiac Study">Abnormal Cardiac Study</a></span><ul><li><span class="TLline"><a href="/medgen/105507" ref="tree=MeSH" title="MedGen record for Abnormal EKG">Abnormal EKG</a></span><ul><li><span class="TLline"><a href="/medgen/1620328" ref="tree=MeSH" title="MedGen record for Abnormal QT interval">Abnormal QT interval</a></span><ul><li><span class="matched_ds">Prolonged QT interval</span><ul><li><span class="TLline"><a href="/medgen/167789" ref="tree=MeSH" title="MedGen record for Corrected Prolonged QT Interval by ECG Finding">Corrected Prolonged QT Interval by ECG Finding</a></span><ul><li><span class="TLline"><a href="/medgen/1744422" ref="tree=MeSH" title="MedGen record for Hydroxychloroquine-triggered QTc Interval Prolongation">Hydroxychloroquine-triggered QTc Interval Prolongation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/294666" ref="tree=MeSH" title="MedGen record for Prolonged QTc interval">Prolonged QTc interval</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_75681"><div><strong>Familial hypokalemia-hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75681</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75681">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_327586"><div><strong>Andersen Tawil syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1563715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/327586">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354526"><div><strong>Familial partial lipodystrophy, Dunnigan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1720860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316943"><div><strong>Dilated cardiomyopathy 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/316943">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331395"><div><strong>Timothy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331395</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include nonsyndromic long QT syndrome (rate-corrected QT [QTc] interval >480 ms); nonsyndromic short QT syndrome (QTc <350 ms), with risk of sudden death; Brugada syndrome (ST segment elevation in right precordial leads [V1-V2]) with short QT interval; classic Timothy syndrome (prolonged QT interval, autism, and congenital heart defect) with or without unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three; and CACNA1C-related neurodevelopmental disorder, in which the features tend to favor one or more of the following: developmental delay / intellectual disability, hypotonia, epilepsy, and/or ataxia.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/331395">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325270"><div><strong>Sick sinus syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder (Benson et al., 2003). Genetic Heterogeneity of Sick Sinus Syndrome Sick sinus syndrome-2 (SSS2; 163800) is caused by mutation in the HCN4 gene (605206). Susceptibility to sick sinus syndrome-3 (SSS3; 614090) is influenced by variation in the MYH6 gene (160710). Sick sinus syndrome-4 (SSS4; 619464) is caused by mutation in the GNB2 gene (139390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325270">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_337451"><div><strong>Creatine transporter deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337451</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337451">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347542"><div><strong>3-methylglutaconic aciduria type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347542</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">3-Methylglutaconic aciduria type V (MGCA5) is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012). For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347542">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370181"><div><strong>Cardiac arrhythmia, ankyrin-B-related</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370181</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia (Mohler et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370220"><div><strong>Progressive familial heart block type IB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370220</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms.\n\nHeart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death.\n\nMost cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.\n\nProgressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370220">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394108"><div><strong>Jervell and Lange-Nielsen syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394108</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394108">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394836"><div><strong>Long QT syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394836</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2678484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394836">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) 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). 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_412871"><div><strong>Congenital generalized lipodystrophy type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412871</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412871">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462293"><div><strong>Long QT syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462293</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150943</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). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462293">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462303"><div><strong>Long QT syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462303</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150953</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). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462303">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462813"><div><strong>Catecholaminergic polymorphic ventricular tachycardia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462813</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462813">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815551"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815551</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815866"><div><strong>Catecholaminergic polymorphic ventricular tachycardia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815866</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815866">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864108"><div><strong>Long QT syndrome 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864108</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LQT14 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block (Crotti et al., 2013). Patients with LQT14, LQT15 (616249), or LQT16 (618782), resulting from mutation in calmodulin genes CALM1, CALM2 (114182), or CALM3 (114183), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864108">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903155"><div><strong>Brugada syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903155</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903155">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646925"><div><strong>Jervell and Lange-Nielsen syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646925</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646925">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641146"><div><strong>Long QT syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641146</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641146">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648325"><div><strong>Cardiomyopathy, familial hypertrophic 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648325</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648325">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823986"><div><strong>Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823986</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include nonsyndromic long QT syndrome (rate-corrected QT [QTc] interval >480 ms); nonsyndromic short QT syndrome (QTc <350 ms), with risk of sudden death; Brugada syndrome (ST segment elevation in right precordial leads [V1-V2]) with short QT interval; classic Timothy syndrome (prolonged QT interval, autism, and congenital heart defect) with or without unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three; and CACNA1C-related neurodevelopmental disorder, in which the features tend to favor one or more of the following: developmental delay / intellectual disability, hypotonia, epilepsy, and/or ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823986">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylglutaconic aciduria type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Andersen Tawil syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brugada syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrhythmia, ankyrin-B-related</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, familial hypertrophic 27</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_462813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Catecholaminergic polymorphic ventricular tachycardia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Catecholaminergic polymorphic ventricular tachycardia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412871" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Creatine transporter deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypokalemia-hypomagnesemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Dunnigan type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jervell and Lange-Nielsen syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jervell and Lange-Nielsen syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 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_815551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial heart block type IB</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sick sinus syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Timothy 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/31654357">Measurement and Management of QT Interval Prolongation for General Physicians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Indraratna P,
|
||
Tardo D,
|
||
Delves M,
|
||
Szirt R,
|
||
Ng B</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2020 Mar;35(3):865-873.
|
||
Epub 2019 Oct 25
|
||
doi: 10.1007/s11606-019-05477-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31654357" target="_blank">31654357</a><a href="/pmc/articles/PMC7080915" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26108299">Pharmacogenetics of Drug-Induced QT Interval Prolongation: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niemeijer MN,
|
||
van den Berg ME,
|
||
Eijgelsheim M,
|
||
Rijnbeek PR,
|
||
Stricker BH</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2015 Oct;38(10):855-67.
|
||
doi: 10.1007/s40264-015-0316-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26108299" target="_blank">26108299</a><a href="/pmc/articles/PMC4579250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9721813">Sinus arrest during tacrolimus treatment: was the QT interval prolonged?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calandra S</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
1998 Aug 15;66(3):402-4.
|
||
doi: 10.1097/00007890-199808150-00021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9721813" target="_blank">9721813</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22prolonged%20qt%20interval%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 (47)</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/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
|
||
Bešlić P,
|
||
Kilić P,
|
||
Planinić Z,
|
||
Pašalić A,
|
||
Galić I,
|
||
Ćubela VV,
|
||
Pekić P</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2021 Dec;60(4):739-748.
|
||
doi: 10.20471/acc.2021.60.04.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29473523">Drug-induced QT Interval Prolongation in the Intensive Care Unit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Etchegoyen CV,
|
||
Keller GA,
|
||
Mrad S,
|
||
Cheng S,
|
||
Di Girolamo G</span><br />
|
||
<span class="medgenPMjournal">Curr Clin Pharmacol</span>
|
||
2017;12(4):210-222.
|
||
doi: 10.2174/1574884713666180223123947.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29473523" target="_blank">29473523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26556983">Cirrhotic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-del-Árbol L,
|
||
Serradilla R</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2015 Nov 7;21(41):11502-21.
|
||
doi: 10.3748/wjg.v21.i41.11502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26556983" target="_blank">26556983</a><a href="/pmc/articles/PMC4631957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19862833">The genetic basis of long QT and short QT syndromes: a mutation update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hedley PL,
|
||
Jørgensen P,
|
||
Schlamowitz S,
|
||
Wangari R,
|
||
Moolman-Smook J,
|
||
Brink PA,
|
||
Kanters JK,
|
||
Corfield VA,
|
||
Christiansen M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2009 Nov;30(11):1486-511.
|
||
doi: 10.1002/humu.21106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19862833" target="_blank">19862833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11331438">Risk/benefit profile of arsenic trioxide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rust DM,
|
||
Soignet SL</span><br />
|
||
<span class="medgenPMjournal">Oncologist</span>
|
||
2001;6 Suppl 2:29-32.
|
||
doi: 10.1634/theoncologist.6-suppl_2-29.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11331438" target="_blank">11331438</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20QT%20interval%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 (447)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
|
||
Bešlić P,
|
||
Kilić P,
|
||
Planinić Z,
|
||
Pašalić A,
|
||
Galić I,
|
||
Ćubela VV,
|
||
Pekić P</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2021 Dec;60(4):739-748.
|
||
doi: 10.20471/acc.2021.60.04.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31778001">Diagnostic and prognostic role of electrocardiogram in acute myocarditis: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buttà C,
|
||
Zappia L,
|
||
Laterra G,
|
||
Roberto M</span><br />
|
||
<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
|
||
2020 May;25(3)
|
||
Epub 2019 Nov 28
|
||
doi: 10.1111/anec.12726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31778001" target="_blank">31778001</a><a href="/pmc/articles/PMC7958927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26556983">Cirrhotic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-del-Árbol L,
|
||
Serradilla R</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2015 Nov 7;21(41):11502-21.
|
||
doi: 10.3748/wjg.v21.i41.11502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26556983" target="_blank">26556983</a><a href="/pmc/articles/PMC4631957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21660912">Electrolyte disorders and arrhythmogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Sherif N,
|
||
Turitto G</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2011;18(3):233-45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21660912" target="_blank">21660912</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3773216">Prolonged QT-interval syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moss AJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1986 Dec 5;256(21):2985-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3773216" target="_blank">3773216</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20QT%20interval%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 (400)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608398">Appropriate prescribing of azithromycin for community-acquired pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qian S,
|
||
Siu J,
|
||
Hussein A,
|
||
Zheng Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2022 Jun;52(6):1079-1082.
|
||
Epub 2022 May 24
|
||
doi: 10.1111/imj.15810.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608398" target="_blank">35608398</a><a href="/pmc/articles/PMC9322330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
|
||
Bešlić P,
|
||
Kilić P,
|
||
Planinić Z,
|
||
Pašalić A,
|
||
Galić I,
|
||
Ćubela VV,
|
||
Pekić P</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2021 Dec;60(4):739-748.
|
||
doi: 10.20471/acc.2021.60.04.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29473523">Drug-induced QT Interval Prolongation in the Intensive Care Unit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Etchegoyen CV,
|
||
Keller GA,
|
||
Mrad S,
|
||
Cheng S,
|
||
Di Girolamo G</span><br />
|
||
<span class="medgenPMjournal">Curr Clin Pharmacol</span>
|
||
2017;12(4):210-222.
|
||
doi: 10.2174/1574884713666180223123947.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29473523" target="_blank">29473523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21075583">Ciprofloxacin-induced torsade de pointes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim M,
|
||
Omar B</span><br />
|
||
<span class="medgenPMjournal">Am J Emerg Med</span>
|
||
2012 Jan;30(1):252.e5-9.
|
||
Epub 2010 Nov 13
|
||
doi: 10.1016/j.ajem.2010.09.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21075583" target="_blank">21075583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3773216">Prolonged QT-interval syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moss AJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1986 Dec 5;256(21):2985-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3773216" target="_blank">3773216</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20QT%20interval%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 (377)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35864808">Prolonged QT Interval in Cirrhosis: Twisting Time?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee W,
|
||
Vandenberk B,
|
||
Raj SR,
|
||
Lee SS</span><br />
|
||
<span class="medgenPMjournal">Gut Liver</span>
|
||
2022 Nov 15;16(6):849-860.
|
||
Epub 2022 Jul 22
|
||
doi: 10.5009/gnl210537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35864808" target="_blank">35864808</a><a href="/pmc/articles/PMC9668500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31778001">Diagnostic and prognostic role of electrocardiogram in acute myocarditis: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buttà C,
|
||
Zappia L,
|
||
Laterra G,
|
||
Roberto M</span><br />
|
||
<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
|
||
2020 May;25(3)
|
||
Epub 2019 Nov 28
|
||
doi: 10.1111/anec.12726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31778001" target="_blank">31778001</a><a href="/pmc/articles/PMC7958927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31512743">A Prospective Study Identifying Predictive Factors of Cardiac Decompensation After Transjugular Intrahepatic Portosystemic Shunt: The Toulouse Algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Billey C,
|
||
Billet S,
|
||
Robic MA,
|
||
Cognet T,
|
||
Guillaume M,
|
||
Vinel JP,
|
||
Péron JM,
|
||
Lairez O,
|
||
Bureau C</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2019 Dec;70(6):1928-1941.
|
||
doi: 10.1002/hep.30934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31512743" target="_blank">31512743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27521087">Nonsustained Ventricular Tachycardia in the Normal Heart: Risk Stratification and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marine JE</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Clin</span>
|
||
2016 Sep;8(3):525-43.
|
||
Epub 2016 Jun 9
|
||
doi: 10.1016/j.ccep.2016.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27521087" target="_blank">27521087</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26556983">Cirrhotic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-del-Árbol L,
|
||
Serradilla R</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2015 Nov 7;21(41):11502-21.
|
||
doi: 10.3748/wjg.v21.i41.11502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26556983" target="_blank">26556983</a><a href="/pmc/articles/PMC4631957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20QT%20interval%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 (217)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608398">Appropriate prescribing of azithromycin for community-acquired pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qian S,
|
||
Siu J,
|
||
Hussein A,
|
||
Zheng Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2022 Jun;52(6):1079-1082.
|
||
Epub 2022 May 24
|
||
doi: 10.1111/imj.15810.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608398" target="_blank">35608398</a><a href="/pmc/articles/PMC9322330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
|
||
Bešlić P,
|
||
Kilić P,
|
||
Planinić Z,
|
||
Pašalić A,
|
||
Galić I,
|
||
Ćubela VV,
|
||
Pekić P</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2021 Dec;60(4):739-748.
|
||
doi: 10.20471/acc.2021.60.04.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31512743">A Prospective Study Identifying Predictive Factors of Cardiac Decompensation After Transjugular Intrahepatic Portosystemic Shunt: The Toulouse Algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Billey C,
|
||
Billet S,
|
||
Robic MA,
|
||
Cognet T,
|
||
Guillaume M,
|
||
Vinel JP,
|
||
Péron JM,
|
||
Lairez O,
|
||
Bureau C</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2019 Dec;70(6):1928-1941.
|
||
doi: 10.1002/hep.30934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31512743" target="_blank">31512743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26541640">Cardiac imaging in patients with chronic liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiese S,
|
||
Hove JD,
|
||
Møller S</span><br />
|
||
<span class="medgenPMjournal">Clin Physiol Funct Imaging</span>
|
||
2017 Jul;37(4):347-356.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1111/cpf.12311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26541640" target="_blank">26541640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27521087">Nonsustained Ventricular Tachycardia in the Normal Heart: Risk Stratification and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marine JE</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Clin</span>
|
||
2016 Sep;8(3):525-43.
|
||
Epub 2016 Jun 9
|
||
doi: 10.1016/j.ccep.2016.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27521087" target="_blank">27521087</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20QT%20interval%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 (245)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/40022015">The association between insulin resistance and QT interval: A systematic review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mobasheri-Shiri M,
|
||
Bazmi S,
|
||
Soleimani-Meigoli MS,
|
||
Karimimoghadam Z,
|
||
Tabrizi R,
|
||
Farjam M</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2025 Feb 28;25(1):139.
|
||
doi: 10.1186/s12872-025-04593-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40022015" target="_blank">40022015</a><a href="/pmc/articles/PMC11869589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
|
||
Bešlić P,
|
||
Kilić P,
|
||
Planinić Z,
|
||
Pašalić A,
|
||
Galić I,
|
||
Ćubela VV,
|
||
Pekić P</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2021 Dec;60(4):739-748.
|
||
doi: 10.20471/acc.2021.60.04.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34590877">Relationship between non-alcoholic fatty liver disease and cardiac arrhythmia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong H,
|
||
Liu X,
|
||
Cheng F</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2021 Sep;49(9):3000605211047074.
|
||
doi: 10.1177/03000605211047074.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34590877" target="_blank">34590877</a><a href="/pmc/articles/PMC8489776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33657070">How to Estimate QT Interval in Patients With Left or Right Bundle Branch Block: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fredholm K,
|
||
Højlund M,
|
||
Bjerregaard MR,
|
||
Nielsen JC,
|
||
Fink-Jensen A,
|
||
Correll CU</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychopharmacol</span>
|
||
2021 May-Jun 01;41(3):323-326.
|
||
doi: 10.1097/JCP.0000000000001373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33657070" target="_blank">33657070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30400791">The arrhythmogenic cardiotoxicity of the quinoline and structurally related antimalarial drugs: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haeusler IL,
|
||
Chan XHS,
|
||
Guérin PJ,
|
||
White NJ</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2018 Nov 7;16(1):200.
|
||
doi: 10.1186/s12916-018-1188-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30400791" target="_blank">30400791</a><a href="/pmc/articles/PMC6220451" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20QT%20interval%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
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||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0151878%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0151878%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0151878%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Prolonged%20QT%20interval" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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