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

被引:0
作者
Kentaro Nakashima
Isao Kusakawa
Tsuyoshi Yamamoto
Shinsuke Hirabayashi
Ryohta Hosoya
Wataru Shimizu
Naokata Sumitomo
机构
[1] St. Luke’s International Hospital,Department of Pediatrics
[2] National Cerebral and Cardiovascular Center,Department of Cardiovascular Medicine
[3] Nihon University School of Medicine,Department of Pediatrics and Child Health
[4] National Hospital Organization Kyushu Cancer Center,Department of Pediatrics
来源
Heart and Vessels | 2013年 / 28卷
关键词
Long QT syndrome; Left ventricular noncompaction; Epilepsy; Cardiopulmonary arrest; mutation;
D O I
暂无
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学科分类号
摘要
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.
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页码:126 / 129
页数:3
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  • [1] Moss AJ(2003)Long QT syndrome JAMA 289 2041-2044
  • [2] Hedley PL(2009)The genetic basis of long QT and short QT syndromes: a mutation update Hum Mutat 30 1486-1511
  • [3] Jørgensen P(2000)Current concepts in long QT syndrome Pediatr Cardiol 21 542-550
  • [4] Schlamowitz S(2006)Contemporary definitions and classification of the cardiomyopathies Circulation 113 1807-1816
  • [5] Wangari R(2001)Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy Heart 86 666-671
  • [6] Moolman-Smook J(1990)Isolated noncompaction of left ventricular myocardium. A study of eight cases Circulation 82 507-513
  • [7] Brink PA(2010)Systolic–diastolic coupling of myocardial deformation of the left ventricle in children with left ventricular noncompaction Heart Vessels 25 493-499
  • [8] Kanters JK(1997)Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome Am J Hum Genet 61 868-872
  • [9] Corfield VA(2001)Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome Circulation 103 1256-1263
  • [10] Christiansen M(2008)SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia Mol Genet Metab 93 468-474