{"id":4082,"date":"2010-03-08T00:49:24","date_gmt":"2010-03-08T00:49:24","guid":{"rendered":"http:\/\/cardiophile.org\/?p=4082"},"modified":"2023-11-10T20:22:44","modified_gmt":"2023-11-10T14:52:44","slug":"inherited-arrhythmias","status":"publish","type":"post","link":"https:\/\/johnsonfrancis.org\/professional\/inherited-arrhythmias\/","title":{"rendered":"Inherited Arrhythmias"},"content":{"rendered":"<p><iframe loading=\"lazy\" width=\"560\" height=\"315\" src=\"https:\/\/www.youtube.com\/embed\/MDFQOz_9J00?si=pIWhhkoOBM9Hh0b_\" title=\"YouTube video player\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" allowfullscreen><\/iframe><\/p>\n<h2><span style=\"color: #008000;\">Inherited Arrhythmias<\/span><\/h2>\n<p>There are several groups of inherited arrhythmias, with each having several genotypes. Important ones are:<\/p>\n<ol>\n<li>Long QT Syndrome<\/li>\n<li>Brugada Syndrome<\/li>\n<li>Catecholaminergic Polymorphic Ventricular Tachycardia<\/li>\n<li>Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy<\/li>\n<li>Short QT Syndrome<\/li>\n<li>Familial Atrial Fibrillation<\/li>\n<li>Sinus Node Disease and<\/li>\n<li>Progressive Cardiac Conduction Defect<\/li>\n<\/ol>\n<p><strong><span style=\"color: #0000ff;\">Congenital Long QT Syndromes<\/span><\/strong><\/p>\n<ol>\n<li>LQT1: KCNQ1 (Alpha sub unit) Decrease in IKs (Slow component of delayed rectifier potassium current)<\/li>\n<li>LQT2: HERG (Alpha sub unit) Decrease in IKr (Rapid component of delayed rectifier potassium current)<\/li>\n<li>LQT3: SCN5A Increase in Late INa (Late sodium current)<\/li>\n<li>LQT4: Ankyrin-B Anchoring protein which anchors ion channel to plasmalemma and sarcolemma<\/li>\n<li>LQT5: KCNE1(minK) (Beta sub unit) Decrease in IKs<\/li>\n<li>LQT7: KCNJ2 (Andersen syndrome) Associated with dysmorphic features and potassium sensitive periodic paralysis<\/li>\n<li>LQT6 KCNE2 (MiRP1)(Beta sub unit) Decrease in IKrLQT7: KCNJ2 (Andersen syndrome)<\/li>\n<li>LQT8: CACNA1c (Timothy syndrome) Associated congenital heart disease and syndactyly<\/li>\n<li>LQT9: CAV3\u00a0 (caveolin 3 &#8211; SIDS) Caveolin is the protein the caveolae (invaginations of the plasma membrane)<\/li>\n<li>LQT10: SCNB4 (Beta subunit of sodium channel)<\/li>\n<li>LQT11: AKAP9 (A-kinase anchor protein 9)<\/li>\n<li>LQT12: SNTA1 (alpha-1 syntrophin)<\/li>\n<\/ol>\n<p><span style=\"color: #000000;\">Homozygous state in congenital long QT syndrome causes defective endolymph secretion in the inner ear and deafness, and is called Jervell-Lange-Nielsen Syndrome<\/span><\/p>\n<ol>\n<li>JLN1 KCNQ1 (homozygous defect of alpha subunit) Decrease in IKs<\/li>\n<li>JLN2 KCNE1(minK) (homozygous defect of beta sub unit) Decrease in IKs<\/li>\n<\/ol>\n<p><strong><span style=\"color: #0000ff;\">Congenital Short QT syndromes<\/span><\/strong><\/p>\n<ol>\n<li>SQT1: Brugada et al &#8211; HERG (KCNH2)\u00a0 Gain in function of Iks<\/li>\n<li>SQT2: Bellocq et al &#8211; KCNQ1 (KvLQT1) Gain in function of Ikr<\/li>\n<li>SQT3: Priori et al &#8211; KCNJ2 Gain in function of Ik1<\/li>\n<\/ol>\n<p>Other causes for shortening of QT interval have to be excluded before diagnosing short QT syndrome, like:<\/p>\n<ol>\n<li>Tachycardia<\/li>\n<li>Hyperthermia<\/li>\n<li>Hypercalcemia and<\/li>\n<li>Digoxin<\/li>\n<\/ol>\n<p><span style=\"color: #000000;\">Clinical manifestations of short QT syndrome includes:<\/span><\/p>\n<ol>\n<li>Short refractory periods<\/li>\n<li>Inducible Ventricular Fibrillation at EP study<\/li>\n<li>Family history of sudden death and<\/li>\n<li>Atrial fibrillation<\/li>\n<\/ol>\n<p><strong><span style=\"color: #0000ff;\">Brugada Syndrome<\/span><\/strong><\/p>\n<p>Most important mutations in SCN5A gene<br \/>\nAutosomal dominant, incomplete penetrance<br \/>\n5 to 66 per 10,000, male predominance<br \/>\nST elevation in precordial leads, polymorphic ventricular tachycardia<br \/>\nCardiac arrest, syncope and family history<\/p>\n<p><span style=\"color: #000000;\"><strong><span style=\"color: #0000ff;\">Arrhythmogenic Right Ventricular Dysplasia<\/span><\/strong> now known as Arrhythmogenic Cariomyopathy as left ventricluar involvement has also been described. Features include:\u00a0<\/span><\/p>\n<p>Regional or global fibro-fatty replacement of myocardium<br \/>\n1:1000 to 1:10 000 incidence<br \/>\nSyncope, sustained VT, cardiac arrest<br \/>\nFamilial in 30%<br \/>\nAutosomal dominant, incomplete penetrance<br \/>\nEpsilon wave on ECG<br \/>\nT wave inversion in anterior leads<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Inherited Arrhythmias: Long QT Syndrome,  Brugada Syndrome,  CPVT, ARVD, Short QT Syndrome, Familial AF, Progressive Cardiac Conduction Defect.<\/p>\n","protected":false},"author":1,"featured_media":28837,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"nf_dc_page":"","footnotes":""},"categories":[6],"tags":[334,564,2207],"class_list":["post-4082","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ecg-electrophysiology","tag-arvd","tag-brugada-syndrome","tag-long-qt-syndrome"],"yoast_head":"<!-- This site is optimized 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