Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.
Andersen's Syndrome is a rare disease, hereditary with autosomal dominant transmission, of the ion channels of the sarcolemmal membranes of the cardiac and skeletal muscles (channelopathy), which affects chromosome 17 of the KCNJ2 gene, responsible for encoding the outward potassium delayed rectifier current KIR2.1, resulting in a loss or suppression of the function of this channel.
Ricardo Pérez Riera
Andrés
A
ABC University Fundação Santo André, São Paulo, Brazil. riera@uol.com.br
Ferreira
Celso
C
Dubner
Sérgio J
SJ
Schapachnik
Edgardo
E
D000200:Action Potentials / Q000235:genetics; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use; D004562:Electrocardiography; D020022:Genetic Predisposition to Disease / Q000209:etiology / Q000235:genetics; D006011:Glycogen Storage Disease Type IV / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D006329:Heart Conduction System / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008133:Long QT Syndrome / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D010245:Paralyses, Familial Periodic / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism
D002257:Carbonic Anhydrase Inhibitors; D015221:Potassium Channels