title: A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report.
abstract: A 5-year-old girl developed cardiopulmonary arrest after crying. From the electrocardiogram and echocardiography, a left ventricular noncompaction (LVNC) with long QT syndrome (LQT) was suspected as the cause of the cardiopulmonary arrest, and treatment with a β-blocker and a calcium antagonist was then begun. A genetic screening of LQT-related genes revealed a previously reported heterozygous KCNQ1 mutation. The association of LVNC and LQT is an extremely rare condition, and long-term treatment based on the characteristics of both disorders is required. Also, the association of cardiomyopathy and LQT could become a new clinical entity in the future.
authors.affiliation: Department of Pediatrics, St. Luke's International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo, Japan. bluesky199067@yahoo.co.jp
authors.forename: Kentaro
authors.initials: K
authors.lastname: Nakashima
authors.forename: Isao
authors.initials: I
authors.lastname: Kusakawa
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Hirabayashi
authors.forename: Ryohta
authors.initials: R
authors.lastname: Hosoya
authors.forename: Wataru
authors.initials: W
authors.lastname: Shimizu
authors.forename: Naokata
authors.initials: N
authors.lastname: Sumitomo
mesh_terms: D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D051657:KCNQ1 Potassium Channel / Q000235:genetics* / Q000378:metabolism; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human