{"id":22061,"date":"2022-08-30T08:12:34","date_gmt":"2022-08-30T08:12:34","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22061"},"modified":"2022-08-31T07:48:43","modified_gmt":"2022-08-31T07:48:43","slug":"andersen-tawil-syndrome-ats-kcnj2-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/andersen-tawil-syndrome-ats-kcnj2-gene\/","title":{"rendered":"Andersen-Tawil syndrome (ATS) \u2013 KCNJ2 gene"},"content":{"rendered":"<p><strong>#OMIM170390 &#8211; <\/strong><a href=\"https:\/\/omim.org\/entry\/170390\"><strong>https:\/\/omim.org\/entry\/170390<\/strong><\/a><\/p>\n<p><strong>Also known as: <\/strong>Andersen syndrome; Long QT syndrome; Andersen cardiodysrhythmic periodic paralysis; Periodic paralysis, potassium-sensitive cardiodysrhythmic type<\/p>\n<h4><strong>1. The Disease:<\/strong><\/h4>\n<p>A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.<\/p>\n<h4><strong>2. The symptoms:<\/strong><\/h4>\n<p>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. <em>Lack of early signs or symptoms does not exclude the diagnosis.<\/em><\/p>\n<ul>\n<li>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.<\/li>\n<li>Mild learning difficulties and a distinct neurocognitive\u00a0<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/glossary\/def-item\/phenotype\/\">phenotype<\/a>(i.e., deficits in executive function and abstract reasoning) have been described.<\/li>\n<\/ul>\n<h4><strong>3. Actions to take in case of early diagnosis<\/strong><\/h4>\n<ul>\n<li>Babies with a positive genetic test (1 pathogenic variants in heterozygous state in the <em>KCNJ2 gene)<\/em>, should continue breastfeeding.<\/li>\n<li>The diagnosis is based on genetic results, clinical features, and EKG abnormalities.<\/li>\n<li>ATS is a lifelong condition that requires lifetime management and regular follow-up with a paediatrician specialist in cardiology, geneticist, and a multidisciplinary approach to care.<\/li>\n<\/ul>\n<ul>\n<li><u>Treatment of manifestations:<\/u> For episodic weakness: if serum potassium concentration is low (&lt;3.0 mmol\/L), administration of oral potassium (20-30 mEq\/L) every 15-30 minutes (not to exceed 200 mEq in a 12-hour period) until the serum concentration normalizes; if a relative drop in serum potassium within the normal range causes episodic paralysis, an individual potassium replacement regimen with a goal of maintaining serum potassium levels in the high range of normal can be considered; if serum potassium concentration is high, ingesting carbohydrates may lower serum potassium levels. Mild exercise may shorten or reduce the severity of the attack.<\/li>\n<li><u>Prevention of primary manifestations:<\/u> Reduction in frequency and severity of episodic attacks of weakness with lifestyle\/dietary modification to avoid known triggers; use of carbonic anhydrase inhibitors; daily use of slow-release potassium supplements; implantable cardioverter-defibrillator for those with tachycardia-induced syncope. <em>Empiric treatment with flecainide should be considered for significant, frequent ventricular arrhythmias in the setting of reduced left ventricular function.<\/em><\/li>\n<li><u>Prevention of secondary complications:<\/u> Cautious use of antiarrhythmic drugs that may paradoxically exacerbate the neuromuscular symptoms.<\/li>\n<li>Surveillance: Annual screening of asymptomatic individuals with a\u00a0<em>KCNJ2<\/em><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/glossary\/def-item\/pathogenic-variant\/\">pathogenic variant<\/a>\u00a0with a 12-lead EKG and 24-hour Holter monitoring.<\/li>\n<li><u>Agents\/circumstances to avoid:<\/u> Medications known to prolong QT intervals; salbutamol inhalers (may exacerbate cardiac arrhythmias); thiazide and other potassium-wasting diuretics (may provoke drug-induced hypokalaemia and could aggravate the QT interval prolongation).<\/li>\n<li>Genetic counselling is highly recommended for family planning and evaluation of at-risk family members.<\/li>\n<\/ul>\n<h4><strong>4. For more informations :<\/strong><\/h4>\n<p><strong>Biblio:<\/strong> https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1264\/<\/p>\n","protected":false},"excerpt":{"rendered":"<p>#OMIM170390 &#8211; https:\/\/omim.org\/entry\/170390 Also known as: Andersen syndrome; Long QT syndrome; Andersen cardiodysrhythmic periodic paralysis; Periodic paralysis, potassium-sensitive cardiodysrhythmic type 1. The Disease: A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature,&#8230;<\/p>\n","protected":false},"author":1,"featured_media":22264,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22061"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22061"}],"version-history":[{"count":0,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22061\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/22264"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22061"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22061"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22061"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}