Strijack Bradford, Ariyarajah Vignendra, Soni Reeni, Jassal Davinder S, Greenberg Cheryl R, McGregor Robert, Morris Andrew
Department of Medicine, St. Boniface General Hospital, University of Manitoba, Winnipeg, Manitoba, Canada.
J Cardiovasc Magn Reson. 2008 Dec 16;10(1):58. doi: 10.1186/1532-429X-10-58.
A 35 year-old asymptomatic Caucasian female with a family history of hypertrophic cardiomyopathy (HCM) was referred for cardiologic evaluation. The electrocardiogram and transthoracic echocardiogram were normal. Cardiovascular magnetic resonance (CMR) was performed for further assessment of myocardial function and presence of myocardial scar. CMR showed normal left ventricular systolic size, measurements and function. However, there was extensive, diffuse late gadolinium enhancement (LGE) throughout the left ventricle. This finding was consistent with extensive myocardial scarring and was highly suggestive of advanced, non-ischemic cardiomyopathy. Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM. There have been no previous reports of such extensive, atypical pattern of myocardial scarring despite an otherwise structurally and functionally normal left ventricle in an asymptomatic individual with HCM. This finding has important implications for phenotype screening in HCM.
一名35岁无症状的白种女性，有肥厚型心肌病（HCM）家族史，前来接受心脏科评估。心电图和经胸超声心动图均正常。进行了心血管磁共振成像（CMR）以进一步评估心肌功能和心肌瘢痕情况。CMR显示左心室收缩大小、测量值及功能均正常。然而，整个左心室存在广泛、弥漫性晚期钆增强（LGE）。这一发现与广泛心肌瘢痕形成一致，高度提示晚期非缺血性心肌病。基因分型显示心肌肌钙蛋白T（TNNT2）基因存在杂合错义突变（275G>A），该突变与HCM存在因果关系。此前尚无关于无症状HCM个体左心室结构和功能在其他方面正常但却出现如此广泛、非典型心肌瘢痕模式的报道。这一发现对HCM的表型筛查具有重要意义。
