A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report

作者：Nakashima Kentaro; Kusakawa Isao; Yamamoto Tsuyoshi; Hirabayashi Shinsuke; Hosoya Ryohta; Shimizu Wataru; Sumitomo Naokata^*

来源：Heart and Vessels, 2013, 28(1): 126-129.

DOI：10.1007/s00380-012-0235-8

• Long QT syndrome
• Left ventricular noncompaction
• Epilepsy
• Cardiopulmonary arrest
• KCNQ1 mutation

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 beta-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.

• 出版日期2013-1