Moon J C, Mogensen J, Elliott P M, Smith G C, Elkington A G, Prasad S K, Pennell D J, McKenna W J
Centre for Advanced Magnetic Resonance in Cardiology, Royal Brompton Hospital, London, UK.
Heart. 2005 Aug;91(8):1036-40. doi: 10.1136/hrt.2004.041384.
To examine the influence of genotype on late gadolinium enhancement (LGE) and the potential of cardiovascular magnetic resonance (CMR) to detect preclinical hypertrophic cardiomyopathy.
Prospective, blinded cohort study of myocardial LGE in a genetically homogeneous population.
30 patients with disease causing mutations in the recognised hypertrophic cardiomyopathy gene for cardiac troponin I (TNNI3): 15 with echocardiographically determined left ventricular hypertrophy (LVH+) and 15 without (LVH-).
CMR measures of regional left ventricular function, wall thickness, and mass, and the extent and distribution of LGE.
LGE was found in 12 (80%) LVH+ patients but with variable extent (mean 15%, range 3-48%). LGE was also found in two (13%) LVH- patients but the extent was limited (3.6%) and both patients were found to have an abnormal ECG and regional hypertrophy by cine CMR. The extent of LGE was positively associated with clinical markers of sudden death risk (21% with > or = 2 risk factors v 7% with < or = 1 risk factor, p = 0.02) and left ventricular mass (r = 0.56, p < 0.001) and was inversely associated with ejection fraction (r = -0.58, p < 0.001). Segmental analysis showed that as regional wall thickness increased, LGE was more prevalent (p < 0.0001) and more extensive (r = 0.98, p = 0.001).
In patients with disease causing mutations in TNNI3, focal fibrosis was not detected by LGE CMR before LVH and ECG abnormalities were present. Once LVH is present, LGE is common and the extent correlates with adverse clinical parameters. This suggests that focal fibrosis is closely linked to disease development.
研究基因型对延迟钆增强（LGE）的影响以及心血管磁共振成像（CMR）检测临床前肥厚型心肌病的潜力。
对基因同质人群的心肌LGE进行前瞻性、盲法队列研究。
30例在公认的肥厚型心肌病基因心肌肌钙蛋白I（TNNI3）中存在致病突变的患者：15例经超声心动图测定有左心室肥厚（LVH+），15例无左心室肥厚（LVH-）。
CMR测定的左心室局部功能、室壁厚度、质量以及LGE的范围和分布。
12例（80%）LVH+患者发现有LGE，但范围各异（平均15%，范围3%-48%）。2例（13%）LVH-患者也发现有LGE，但范围有限（3.6%），且这2例患者经电影CMR检查均发现有异常心电图和局部肥厚。LGE的范围与猝死风险的临床指标呈正相关（≥2个危险因素者为21%，≤1个危险因素者为7%，p = 0.02），与左心室质量呈正相关（r = 0.56，p < 0.001），与射血分数呈负相关（r = -0.58，p < 0.001）。节段分析显示，随着局部室壁厚度增加，LGE更常见（p < 0.0001）且范围更广（r = 0.98，p = 0.001）。
在TNNI3基因存在致病突变的患者中，在出现左心室肥厚和心电图异常之前，LGE CMR未检测到局灶性纤维化。一旦出现左心室肥厚，LGE很常见，且范围与不良临床参数相关。这表明局灶性纤维化与疾病发展密切相关。
