一例由KCNQ1突变引起的长QT综合征患者合并左心室心肌致密化不全：病例报告
A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report.
作者信息
Nakashima Kentaro, Kusakawa Isao, Yamamoto Tsuyoshi, Hirabayashi Shinsuke, Hosoya Ryohta, Shimizu Wataru, Sumitomo Naokata
机构信息
Department of Pediatrics, St. Luke's International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo, Japan.
出版信息
Heart Vessels. 2013 Jan;28(1):126-9. doi: 10.1007/s00380-012-0235-8. Epub 2012 Feb 22.
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.
一名5岁女孩在哭闹后发生心肺骤停。根据心电图和超声心动图检查，怀疑左心室心肌致密化不全（LVNC）合并长QT综合征（LQT）是导致心肺骤停的原因，随后开始使用β受体阻滞剂和钙拮抗剂进行治疗。对LQT相关基因进行的基因筛查发现了一个先前报道过的KCNQ1杂合突变。LVNC与LQT的关联是一种极其罕见的情况，需要根据这两种病症的特点进行长期治疗。此外，心肌病与LQT的关联未来可能会成为一种新的临床病症。
Zotero 插件